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CORDIS - Resultados de investigaciones de la UE
CORDIS

Establishment of the Bioinformatics ERA Chair at the Cyprus Institute of Neurology and Genetics

Resultado final

Publicaciones

Gene variants of adhesion molecules act as modifiers of disease severity in MS

Autores: Efthimios Dardiotis, Elena Panayiotou, Antonios Provatas, Kyproula Christodoulou, Andreas Hadjisavvas, Athos Antoniades, Athanasios Lourbopoulos, Marios Pantzaris, Nikolaos Grigoriadis, Georgios M. Hadjigeorgiou, Theodoros Kyriakides
Publicado en: Neurology - Neuroimmunology Neuroinflammation, Edición 4/4, 2017, Página(s) e350, ISSN 2332-7812
Editor: Wolters Kluwer
DOI: 10.1212/NXI.0000000000000350

Integrating multi-source information on a single network to detect disease-related clusters of molecular mechanisms

Autores: Margarita Zachariou, George Minadakis, Anastasis Oulas, Sotiroula Afxenti, George M. Spyrou
Publicado en: Journal of Proteomics, 2018, ISSN 1874-3919
Editor: Elsevier BV
DOI: 10.1016/j.jprot.2018.03.009

Systems Bioinformatics: increasing precision of computational diagnostics and therapeutics through network-based approaches

Autores: Anastasis Oulas, George Minadakis, Margarita Zachariou, Kleitos Sokratous, Marilena M Bourdakou, George M Spyrou
Publicado en: Briefings in Bioinformatics, 2017, ISSN 1467-5463
Editor: Oxford University Press
DOI: 10.1093/bib/bbx151

Revealing Clusters of Connected Pathways through Multisource Data Integration in Huntington's disease and Spastic Ataxia

Autores: Andrea Kakouri, Christiana Christodoulou, Margarita Zachariou, Anastasios Oulas, George Minadakis, Christiana Demetriou, Christina Votsi, Eleni Papanicolaou-Zamba, Christodoulou Kyproula, George Spyrou
Publicado en: IEEE Journal of Biomedical and Health Informatics, Edición 178.50, 2018, Página(s) 1-1, ISSN 2168-2194
Editor: Institute of Electrical and Electronics Engineers Inc.
DOI: 10.1109/JBHI.2018.2865569

PathwayConnector: finding complementary pathways to enhance functional analysis

Autores: George Minadakis, Margarita Zachariou, Anastasis Oulas, George M Spyrou
Publicado en: Bioinformatics, 2018, ISSN 1367-4803
Editor: Oxford University Press
DOI: 10.1093/bioinformatics/bty693

Annonacin promotes selective cancer cell death via NKA-dependent and SERCA-dependent pathways

Autores: Andreas Yiallouris, Ioannis Patrikios, Elizabeth O. Johnson, Evangelia Sereti, Konstantinos Dimas, Cristian De Ford, Natalia U. Fedosova, Wolfgang F. Graier, Kleitos Sokratous, Kyriakos Kyriakou, Anastasis Stephanou
Publicado en: Cell Death & Disease, Edición 9/7, 2018, ISSN 2041-4889
Editor: Nature Publishing Group
DOI: 10.1038/s41419-018-0772-x

Omega-3 fatty acids supplementation: therapeutic potential in a mouse model of Stargardt's disease

Autores: T. Georgiou, E. Prokopiou, P. Kolovos, M. Kalogerou, A. Neokleous, O. Nicolaou, K. Sokratous, K. Kyriacou
Publicado en: Acta Ophthalmologica, Edición 95, 2017, ISSN 1755-375X
Editor: Wiley-Blackwell
DOI: 10.1111/j.1755-3768.2017.01181

Computational profiling of the gut–brain axis: microflora dysbiosis insights to neurological disorders

Autores: Nikolas Dovrolis, George Kolios, George M Spyrou, Ioanna Maroulakou
Publicado en: Briefings in Bioinformatics, 2017, ISSN 1467-5463
Editor: Oxford University Press
DOI: 10.1093/bib/bbx154

Vascular inflammation and metabolic activity in hematopoietic organs and liver in familial combined hyperlipidemia and heterozygous familial hypercholesterolemia

Autores: Konstantinos Toutouzas, John Skoumas, Iosif Koutagiar, Georgios Benetos, Nikoletta Pianou, Alexandros Georgakopoulos, Spyros Galanakos, Alexios Antonopoulos, Maria Drakopoulou, Evangelos K. Oikonomou, Pavlos Kafouris, Emmanouil Athanasiadis, Marinos Metaxas, George Spyrou, Zoi Pallantza, Nikolaos Galiatsatos, Constantina Aggeli, Charalampos Antoniades, Georgia Keramida, Adrien M. Peters, Constanti
Publicado en: Journal of Clinical Lipidology, Edición 12/1, 2018, Página(s) 33-43, ISSN 1933-2874
Editor: Elsevier BV
DOI: 10.1016/j.jacl.2017.10.019

Informed walks: whispering hints to gene hunters inside networks’ jungle

Autores: Marilena M. Bourdakou, George M. Spyrou
Publicado en: BMC Systems Biology, Edición 11/1, 2017, ISSN 1752-0509
Editor: BioMed Central
DOI: 10.1186/s12918-017-0473-6

Drug repurposing in idiopathic pulmonary fibrosis filtered by a bioinformatics-derived composite score

Autores: E. Karatzas, M. M. Bourdakou, G. Kolios, G. M. Spyrou
Publicado en: Scientific Reports, Edición 7/1, 2017, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/s41598-017-12849-8

Automatic cumulative sums contour detection of FBP-reconstructed multi-object nuclear medicine images

Autores: Nicholas E. Protonotarios, George M. Spyrou, George A. Kastis
Publicado en: Computers in Biology and Medicine, Edición 85, 2017, Página(s) 43-52, ISSN 0010-4825
Editor: Pergamon Press Ltd.
DOI: 10.1016/j.compbiomed.2017.04.010

Laying in silico pipelines for drug repositioning: a paradigm in ensemble analysis for neurodegenerative diseases

Autores: Nikolas Dovrolis, George Kolios, George Spyrou, Ioanna Maroulakou
Publicado en: Drug Discovery Today, Edición 22/5, 2017, Página(s) 805-813, ISSN 1359-6446
Editor: Elsevier BV
DOI: 10.1016/j.drudis.2017.03.009

Pharmacological Stimulation of Phagocytosis Enhances Amyloid Plaque Clearance; Evidence from a Transgenic Mouse Model of ATTR Neuropathy

Autores: Eleni Fella, Kleitos Sokratous, Revekka Papacharalambous, Kyriacos Kyriacou, Joy Phillips, Sam Sanderson, Elena Panayiotou, Theodoros Kyriakides
Publicado en: Frontiers in Molecular Neuroscience, Edición 10, 2017, ISSN 1662-5099
Editor: Frontiers Research Foundation
DOI: 10.3389/fnmol.2017.00138

Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3

Autores: George A. Tanteles, Elpiniki Nikolaou, Yiolanda Christou, Angelos Alexandrou, Paola Evangelidou, Violetta Christophidou-Anastasiadou, Carolina Sismani, Savvas S. Papacostas
Publicado en: Case Reports in Genetics, Edición 2015, 2015, Página(s) 1-5, ISSN 2090-6544
Editor: Hindawi Publishing Corporation
DOI: 10.1155/2015/242891

Bisulfite Conversion of DNA: Performance Comparison of Different Kits and Methylation Quantitation of Epigenetic Biomarkers that Have the Potential to Be Used in Non-Invasive Prenatal Testing

Autores: Chrysanthia A. Leontiou, Michael D. Hadjidaniel, Petros Mina, Pavlos Antoniou, Marios Ioannides, Philippos C. Patsalis
Publicado en: PLOS ONE, Edición 10/8, 2015, Página(s) e0135058, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0135058

MyoD transcription factor induces myogenesis by inhibiting Twist-1 through miR-206

Autores: D. Koutalianos, A. Koutsoulidou, N. P. Mastroyiannopoulos, D. Furling, L. A. Phylactou
Publicado en: Journal of Cell Science, Edición 128/19, 2015, Página(s) 3631-3645, ISSN 0021-9533
Editor: The Company of Biologists Ltd.
DOI: 10.1242/jcs.172288

In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty

Autores: Vassos Neocleous, Christos Shammas, Marie M. Phelan, Stella Nicolaou, Leonidas A. Phylactou, Nicos Skordis
Publicado en: Clinical Endocrinology, Edición 84/1, 2016, Página(s) 80-84, ISSN 0300-0664
Editor: Blackwell Publishing Inc.
DOI: 10.1111/cen.12854

Reversal of dilated cardiomyopathy after glucagonoma excision

Autores: Ozan Demir, Stavroula Paschou, Huw Christopher Ellis, Michael Fitzpatrick, Andreas Kalogeropoulos, Andrew Davies, Jeremy Thompson, Simon Davies, Julia Grapsa
Publicado en: HORMONES, 2014, ISSN 1109-3099
Editor: Hellenic Endocrine Society
DOI: 10.14310/horm.2002.1557

Sex-specific age association with primary DNA transfer

Autores: Panayiotis Manoli, Antonis Antoniou, Evy Bashiardes, Stavroulla Xenophontos, Marinos Photiades, Vaso Stribley, Michalis Mylona, Christiana Demetriou, Marios A. Cariolou
Publicado en: International Journal of Legal Medicine, Edición 130/1, 2016, Página(s) 103-112, ISSN 0937-9827
Editor: Springer Verlag
DOI: 10.1007/s00414-015-1291-2

Oxidative stress in β-thalassaemia and sickle cell disease

Autores: S. Voskou, M. Aslan, P. Fanis, M. Phylactides, M. Kleanthous
Publicado en: Redox Biology, Edición 6, 2015, Página(s) 226-239, ISSN 2213-2317
Editor: Elsevier BV
DOI: 10.1016/j.redox.2015.07.018

Beta testing: preclinical genome editing in β-globin disorders

Autores: Carsten Lederer, Marina Kleanthous
Publicado en: Cell and Gene Therapy Insights, Edición 1/2, 2015, ISSN 2059-7800
Editor: BIOINSIGHTS PUBLISHING LTD
DOI: 10.18609/cgti.2015.021

Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report

Autores: MARIA A. LOIZIDOU, ANDREAS HADJISAVVAS, GEORGE A. TANTELES, ELENA SPANOU-ARISTIDOU, KYRIACOS KYRIACOU, VIOLETTA CHRISTOPHIDOU-ANASTASIADOU
Publicado en: Oncology Letters, Edición 11/1, 2015, Página(s) 471-473, ISSN 1792-1074
Editor: Spandidos Publications
DOI: 10.3892/ol.2015.3852

Systematic integration of molecular profiles identifies miR-22 as a regulator of lipid and folate metabolism in breast cancer cells

Autores: C Koufaris, G N Valbuena, Y Pomyen, G D Tredwell, E Nevedomskaya, C-HE Lau, T Yang, A Benito, J K Ellis, H C Keun
Publicado en: Oncogene, Edición 35/21, 2016, Página(s) 2766-2776, ISSN 0950-9232
Editor: Nature Publishing Group
DOI: 10.1038/onc.2015.333

Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas

Autores: GEORGE A. TANTELES, MICHAEL NICOLAOU, VASSOS NEOCLEOUS, CHRISTOS SHAMMAS, MARIA A. LOIZIDOU, ANGELOS ALEXANDROU, ELENA ELLINA, NASIA PATSIA, CAROLINA SISMANI, LEONIDAS A. PHYLACTOU, VIOLETTA CHRISTOPHIDOU-ANASTASIADOU
Publicado en: Journal of Genetics, Edición 94/4, 2015, Página(s) 749-754, ISSN 0022-1333
Editor: Indian Academy of Sciences
DOI: 10.1007/s12041-015-0564-3

iCLIP identifies novel roles for SAFB1 in regulating RNA processing and neuronal function

Autores: Caroline Rivers, Jalilah Idris, Helen Scott, Mark Rogers, Youn-Bok Lee, Jessica Gaunt, Leonidas Phylactou, Tomaz Curk, Colin Campbell, Jernej Ule, Michael Norman, James B. Uney
Publicado en: BMC Biology, Edición 13/1, 2015, ISSN 1741-7007
Editor: BioMed Central
DOI: 10.1186/s12915-015-0220-7

Aetiology of Acute Respiratory Tract Infections in Hospitalised Children in Cyprus

Autores: Jan Richter, Christakis Panayiotou, Christina Tryfonos, Dana Koptides, Maria Koliou, Nikolas Kalogirou, Eleni Georgiou, Christina Christodoulou
Publicado en: PLOS ONE, Edición 11/1, 2016, Página(s) e0147041, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0147041

Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum

Autores: P. Ruiz Sala, G. Ruijter, C. Acquaviva, A. Chabli, M. G. M. de Sain-van der Velden, J. Garcia-Villoria, M. R. Heiner-Fokkema, E. Jeannesson-Thivisol, K. Leckstrom, L. Franzson, G. Lynes, J. Olesen, W. Onkenhout, P. Petrou, A. Drousiotou, A. Ribes, C. Vianey-Saban, B. Merinero
Publicado en: JIMD Reports, 2016, Página(s) 23-31, ISSN 2192-8304
Editor: Springer Berlin Heidelberg
DOI: 10.1007/8904_2016_533

A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder

Autores: COSTAS KOUFARIS, ANGELOS ALEXANDROU, GEORGE A. TANTELES, VIOLETTA ANASTASIADOU, CAROLINA SISMANI
Publicado en: Biomedical Reports, Edición 4/2, 2015, Página(s) 215-218, ISSN 2049-9434
Editor: Spandidos Publications
DOI: 10.3892/br.2015.559

Assessing the Relationship between Neurocognitive Performance and Brain Volume in Chronic Moderate–Severe Traumatic Brain Injury

Autores: Nikos Konstantinou, Eva Pettemeridou, Ioannis Seimenis, Eleni Eracleous, Savvas S. Papacostas, Andrew C. Papanicolaou, Fofi Constantinidou
Publicado en: Frontiers in Neurology, Edición 7, 2016, ISSN 1664-2295
Editor: Frontiers Research Foundation
DOI: 10.3389/fneur.2016.00029

Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy

Autores: Alexia Kagiava, Irene Sargiannidou, George Theophilidis, Christos Karaiskos, Jan Richter, Stavros Bashiardes, Natasa Schiza, Marianna Nearchou, Christina Christodoulou, Steven S. Scherer, Kleopas A. Kleopa
Publicado en: Proceedings of the National Academy of Sciences, Edición 113/17, 2016, Página(s) E2421-E2429, ISSN 0027-8424
Editor: National Academy of Sciences
DOI: 10.1073/pnas.1522202113

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

Autores: Douglas F Easton, Fabienne Lesueur, Brennan Decker, Kyriaki Michailidou, Jun Li, Jamie Allen, Craig Luccarini, Karen A Pooley, Mitul Shah, Manjeet K Bolla, Qin Wang, Joe Dennis, Jamil Ahmad, Ella R Thompson, Francesca Damiola, Maroulio Pertesi, Catherine Voegele, Noura Mebirouk, Nivonirina Robinot, Geoffroy Durand, Nathalie Forey, Robert N Luben, Shahana Ahmed, Kristiina Aittomäki, Hoda Anton-Cul
Publicado en: Journal of Medical Genetics, Edición 53/5, 2016, Página(s) 298-309, ISSN 0022-2593
Editor: British Medical Association
DOI: 10.1136/jmedgenet-2015-103529

Prevalence of RhD status and clinical application of non-invasive prenatal determination of fetal RHD in maternal plasma: a 5 year experience in Cyprus

Autores: Thessalia Papasavva, Pete Martin, Tobias J. Legler, Marios Liasides, George Anastasiou, Agathoklis Christofides, Tasos Christodoulou, Sotos Demetriou, Prokopis Kerimis, Charis Kontos, George Leontiades, Demetris Papapetrou, Telis Patroclos, Marios Phylaktou, Nikos Zottis, Eleni Karitzie, Eleni Pavlou, Petros Kountouris, Barbera Veldhuisen, Ellen van der Schoot, Marina Kleanthous
Publicado en: BMC Research Notes, Edición 9/1, 2016, ISSN 1756-0500
Editor: BioMed Central
DOI: 10.1186/s13104-016-2002-x

Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation

Autores: Christos Shammas, Stefania Byrou, Marie Phelan, Meropi Toumba, Charilaos Stylianou, Nicos Skordis, Vassos Neocleous, Leonidas Phylactou
Publicado en: HORMONES, 2016, ISSN 1109-3099
Editor: Hellenic Endocrine Society
DOI: 10.14310/horm.2002.1651

The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study

Autores: Petros Kountouris, Ioanna Kousiappa, Thessalia Papasavva, George Christopoulos, Eleni Pavlou, Miranda Petrou, Xenia Feleki, Eleni Karitzie, Marios Phylactides, Pavlos Fanis, Carsten W. Lederer, Andreani R. Kyrri, Eleni Kalogerou, Christiana Makariou, Christiana Ioannou, Loukas Kythreotis, Georgia Hadjilambi, Nicoletta Andreou, Evangelia Pangalou, Irene Savvidou, Michael Angastiniotis, Michael Hadj
Publicado en: Scientific Reports, Edición 6/1, 2016, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/srep26371

Suppression of MTHFD2 in MCF-7 Breast Cancer Cells Increases Glycolysis, Dependency on Exogenous Glycine, and Sensitivity to Folate Depletion

Autores: Costas Koufaris, Suchira Gallage, Tianlai Yang, Chung-Ho Lau, Gabriel N. Valbuena, Hector C. Keun
Publicado en: Journal of Proteome Research, Edición 15/8, 2016, Página(s) 2618-2625, ISSN 1535-3893
Editor: American Chemical Society
DOI: 10.1021/acs.jproteome.6b00188

A novel MC4R deletion coexisting with FTO and MC1R gene variants, causes severe early onset obesity

Autores: Vassos Neocleous, Christos Shammas, Marie Phelan, Pavlos Fanis, Maria Pantelidou, Nicos Skordis, Christos Mantzoros, Leonidas Phylactou, Meropi Toumba
Publicado en: HORMONES, 2016, ISSN 1109-3099
Editor: Hellenic Endocrine Society
DOI: 10.14310/horm.2002.1686

Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weight

Autores: COSTAS KOUFARIS, ANGELOS ALEXANDROU, IOANNIS PAPAEVRIPIDOU, IOANNA ALEXANDROU, VIOLETTA CHRISTOPHIDOU-ANASTASIADOU, CAROLINA SISMANI
Publicado en: Journal of Genetics, Edición 95/3, 2016, Página(s) 621-624, ISSN 0022-1333
Editor: Indian Academy of Sciences
DOI: 10.1007/s12041-016-0666-6

Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease

Autores: Margarita Olympiou, Irene Sargiannidou, Kyriaki Markoullis, Christos Karaiskos, Alexia Kagiava, Styliana Kyriakoudi, Charles K. Abrams, Kleopas A. Kleopa
Publicado en: Acta Neuropathologica Communications, Edición 4/1, 2016, ISSN 2051-5960
Editor: BioMed Central
DOI: 10.1186/s40478-016-0369-5

Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin

Autores: ANGELOS ALEXANDROU, IOANNIS PAPAEVRIPIDOU, KYRIAKOS TSANGARAS, IOANNA ALEXANDROU, MARIOS TRYFONIDIS, VIOLETTA CHRISTOPHIDOU-ANASTASIADOU, ELENI ZAMBA-PAPANICOLAOU, GEORGE KOUMBARIS, VASSOS NEOCLEOUS, LEONIDAS A. PHYLACTOU, NICOS SKORDIS, GEORGE A. TANTELES, CAROLINA SISMANI
Publicado en: Journal of Genetics, Edición 95/4, 2016, Página(s) 839-845, ISSN 0022-1333
Editor: Indian Academy of Sciences
DOI: 10.1007/s12041-016-0698-y

Whole-genome fetal and maternal DNA methylation analysis using MeDIP-NGS for the identification of differentially methylated regions

Autores: ANNA KERAVNOU, MARIOS IOANNIDES, KYRIAKOS TSANGARAS, CHARALAMBOS LOIZIDES, MICHAEL D. HADJIDANIEL, ELISAVET A. PAPAGEORGIOU, SKEVI KYRIAKOU, PAVLOS ANTONIOU, PETROS MINA, ACHILLEAS ACHILLEOS, MARIA NEOFYTOU, ELENA KYPRI, CAROLINA SISMANI, GEORGE KOUMBARIS, PHILIPPOS C. PATSALIS
Publicado en: Genetics Research, Edición 98, 2016, ISSN 1469-5073
Editor: Cambridge Core
DOI: 10.1017/S0016672316000136

Evidence of digenic inheritance in autoinflammation-associated genes

Autores: VASSOS NEOCLEOUS, STEFANIA BYROU, MEROPI TOUMBA, CONSTANTINA COSTI, CHRISTOS SHAMMAS, CHRISTINA KYRIAKOU, VIOLETTA CHRISTOPHIDOU-ANASTASIADOU, GEORGE A. TANTELES, ADAMOS HADJIPANAYIS, LEONIDAS A. PHYLACTOU
Publicado en: Journal of Genetics, Edición 95/4, 2016, Página(s) 761-766, ISSN 0022-1333
Editor: Indian Academy of Sciences
DOI: 10.1007/s12041-016-0691-5

Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis

Autores: Panayiotis Kouis, Panayiotis K. Yiallouros, Nicos Middleton, John S. Evans, Kyriacos Kyriacou, Stefania I. Papatheodorou
Publicado en: Pediatric Research, Edición 81/3, 2017, Página(s) 398-405, ISSN 0031-3998
Editor: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/pr.2016.263

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

Autores: Maya Ghoussaini, Juliet D. French, Kyriaki Michailidou, Silje Nord, Jonathan Beesley, Sander Canisus, Kristine M. Hillman, Susanne Kaufmann, Haran Sivakumaran, Mahdi Moradi Marjaneh, Jason S. Lee, Joe Dennis, Manjeet K. Bolla, Qin Wang, Ed Dicks, Roger L. Milne, John L. Hopper, Melissa C. Southey, Marjanka K. Schmidt, Annegien Broeks, Kenneth Muir, Artitaya Lophatananon, Peter A. Fasching, Matthia
Publicado en: The American Journal of Human Genetics, Edición 99/4, 2016, Página(s) 903-911, ISSN 0002-9297
Editor: University of Chicago Press
DOI: 10.1016/j.ajhg.2016.07.017

Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21

Autores: Yosr Hamdi, Penny Soucy, Véronique Adoue, Kyriaki Michailidou, Sander Canisius, Audrey Lemaçon, Arnaud Droit, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Caroline Baynes, Carl Blomqvist, Natalia V. Bogdanova, Stig E. Bojesen, Manjeet K. Bolla, Bernardo Bonanni, Anne-Lise Borresen-Dale, Judith S. Brand, Hiltrud Brauch, Hermann Brenner, Annegien Broeks, Barbara Burwinkel, Jenny Chang-Claude
Publicado en: Oncotarget, Edición 7/49, 2016, ISSN 1949-2553
Editor: Impact Journals
DOI: 10.18632/oncotarget.12818

rs2735383, located at a microRNA binding site in the 3’UTR of NBS1, is not associated with breast cancer risk

Autores: Jingjing Liu, Ivona Lončar, J. Margriet Collée, Manjeet K. Bolla, Joe Dennis, Kyriaki Michailidou, Qin Wang, Irene L. Andrulis, Monica Barile, Matthias W. Beckmann, Sabine Behrens, Javier Benitez, Carl Blomqvist, Bram Boeckx, Natalia V. Bogdanova, Stig E. Bojesen, Hiltrud Brauch, Paul Brennan, Hermann Brenner, Annegien Broeks, Barbara Burwinkel, Jenny Chang-Claude, Shou-Tung Chen, Georgia Chenev
Publicado en: Scientific Reports, Edición 6/1, 2016, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/srep36874

Patient survival and tumor characteristics associated with CHEK2:p.I157T – findings from the Breast Cancer Association Consortium

Autores: Taru A. Muranen, Carl Blomqvist, Thilo Dörk, Anna Jakubowska, Päivi Heikkilä, Rainer Fagerholm, Dario Greco, Kristiina Aittomäki, Stig E. Bojesen, Mitul Shah, Alison M. Dunning, Valerie Rhenius, Per Hall, Kamila Czene, Judith S. Brand, Hatef Darabi, Jenny Chang-Claude, Anja Rudolph, Børge G. Nordestgaard, Fergus J. Couch, Steven N. Hart, Jonine Figueroa, Montserrat García-Closas, Peter A. Fa
Publicado en: Breast Cancer Research, Edición 18/1, 2016, ISSN 1465-542X
Editor: BioMed Central
DOI: 10.1186/s13058-016-0758-5

Genetic modifiers of CHEK2*1100delC-associated breast cancer risk

Autores: Taru A. Muranen, Dario Greco, Carl Blomqvist, Kristiina Aittomäki, Sofia Khan, Frans Hogervorst, Senno Verhoef, Paul D.P. Pharoah, Alison M. Dunning, Mitul Shah, Robert Luben, Stig E. Bojesen, Børge G. Nordestgaard, Minouk Schoemaker, Anthony Swerdlow, Montserrat García-Closas, Jonine Figueroa, Thilo Dörk, Natalia V. Bogdanova, Per Hall, Jingmei Li, Elza Khusnutdinova, Marina Bermisheva, Vesse
Publicado en: Genetics in Medicine, Edición 19/5, 2016, Página(s) 599-603, ISSN 1098-3600
Editor: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/gim.2016.147

Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications

Autores: Maria C. Neofytou, Kyriakos Tsangaras, Elena Kypri, Charalambos Loizides, Marios Ioannides, Achilleas Achilleos, Petros Mina, Anna Keravnou, Carolina Sismani, George Koumbaris, Philippos C. Patsalis
Publicado en: PLOS ONE, Edición 12/2, 2017, Página(s) e0171319, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0171319

Correction: Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing

Autores: Constantia Aristidou, Costas Koufaris, Athina Theodosiou, Mads Bak, Mana M. Mehrjouy, Farkhondeh Behjati, George Tanteles, Violetta Christophidou-Anastasiadou, Niels Tommerup, Carolina Sismani
Publicado en: PLOS ONE, Edición 12/3, 2017, Página(s) e0174190, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0174190

Type 2 Diabetes Susceptibility in the Greek-Cypriot Population: Replication of Associations with TCF7L2, FTO, HHEX, SLC30A8 and IGF2BP2 Polymorphisms

Autores: Christina Votsi, Costas Toufexis, Kyriaki Michailidou, Athos Antoniades, Nicos Skordis, Minas Karaolis, Constantinos Pattichis, Kyproula Christodoulou
Publicado en: Genes, Edición 8/1, 2017, Página(s) 16, ISSN 2073-4425
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes8010016

Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model

Autores: Elena Georgiou, Kyriaki Sidiropoulou, Jan Richter, Christos Papaneophytou, Irene Sargiannidou, Alexia Kagiava, Georg von Jonquieres, Christina Christodoulou, Matthias Klugmann, Kleopas A. Kleopa
Publicado en: Brain, 2017, Página(s) aww351, ISSN 0006-8950
Editor: Oxford University Press
DOI: 10.1093/brain/aww351

Identification of exosomal muscle-specific miRNAs in serum of myotonic dystrophy patients relating to muscle disease progress

Autores: Andrie Koutsoulidou, Marinos Photiades, Tassos C. Kyriakides, Kristia Georgiou, Marianna Prokopi, Konstantinos Kapnisis, Anna Łusakowska, Marianna Nearchou, Yiolanda Christou, George K. Papadimas, Andreas Anayiotos, Kyriakos Kyriakou, Evangelia Kararizou, Eleni Zamba Papanicolaou, Leonidas A. Phylactou
Publicado en: Human Molecular Genetics, Edición 26/17, 2017, Página(s) 3285-3302, ISSN 0964-6906
Editor: Oxford University Press
DOI: 10.1093/hmg/ddx212

Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia

Autores: Vassos Neocleous, Pavlos Fanis, Meropi Toumba, Alexia A. P. Phedonos, Michalis Picolos, Elena Andreou, Tassos C. Kyriakides, George A. Tanteles, Christos Shammas, Leonidas A. Phylactou, Nicos Skordis
Publicado en: International Journal of Endocrinology, Edición 2017, 2017, Página(s) 1-8, ISSN 1687-8337
Editor: Hindawi Publishing Corporation
DOI: 10.1155/2017/8984365

Successful use of tocilizumab in two cases of severe autoinflammatory disease with a single copy of the Mediterranean fever gene

Autores: Elena Nikiphorou, Vassos Neocleous, Leonidas A. Phylactou, Savvas Psarelis
Publicado en: Rheumatology, Edición 56/9, 2017, Página(s) 1627-1628, ISSN 1462-0324
Editor: Oxford University Press
DOI: 10.1093/rheumatology/kex180

Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN

Autores: Yiolanda-Panayiota Christou, George A. Tanteles, Elena Kkolou, Annita Ormiston, Kostas Konstantopoulos, Maria Beconi, Randall D. Marshall, Horacio Plotkin, Kleopas A. Kleopa
Publicado en: Case Reports in Neurological Medicine, Edición 2017, 2017, Página(s) 1-6, ISSN 2090-6668
Editor: Hindawi
DOI: 10.1155/2017/3247034

Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X

Autores: Styliana Kyriakoudi, Irene Sargiannidou, Alexia Kagiava, Margarita Olympiou, Kleopas A. Kleopa
Publicado en: Human Molecular Genetics, Edición 26/9, 2017, Página(s) 1622-1633, ISSN 0964-6906
Editor: Oxford University Press
DOI: 10.1093/hmg/ddx064

Y-chromosomal analysis of Greek Cypriots reveals a primarily common pre-Ottoman paternal ancestry with Turkish Cypriots

Autores: Alexandros Heraclides, Evy Bashiardes, Eva Fernández-Domínguez, Stefania Bertoncini, Marios Chimonas, Vasilis Christofi, Jonathan King, Bruce Budowle, Panayiotis Manoli, Marios A. Cariolou
Publicado en: PLOS ONE, Edición 12/6, 2017, Página(s) e0179474, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0179474

The “sweet” side of ER-mitochondria contact sites

Autores: Anthi Demetriadou, Anthi Drousiotou, Petros P. Petrou
Publicado en: Communicative & Integrative Biology, Edición 10/4, 2017, Página(s) e1329787, ISSN 1942-0889
Editor: Landes Bioscience
DOI: 10.1080/19420889.2017.1329787

Mitochondrial superclusters influence age of onset of Parkinson’s disease in a gender specific manner in the Cypriot population: A case-control study

Autores: Andrea Georgiou, Christiana A. Demetriou, Alexandros Heraclides, Yiolanda P. Christou, Eleni Leonidou, Panayiotis Loukaides, Elena Yiasoumi, Dimitris Panagiotou, Panayiotis Manoli, Pippa Thomson, Maria A. Loizidou, Andreas Hadjisavvas, Eleni Zamba-Papanicolaou
Publicado en: PLOS ONE, Edición 12/9, 2017, Página(s) e0183444, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0183444

Status, quality and specific needs of Zika virus (ZIKV) diagnostic capacity and capability in National Reference Laboratories for arboviruses in 30 EU/EEA countries, May 2016

Autores: Ramona Mögling, Hervé Zeller, Joana Revez, Marion Koopmans, Chantal Reusken
Publicado en: Eurosurveillance, Edición 22/36, 2017, ISSN 1025-496X
Editor: Centre Europeen pour la Surveillance Epidemiologique du SIDA
DOI: 10.2807/1560-7917.ES.2017.22.36.30609

Gene-environment interactions involving functional variants: Results from the Breast Cancer Association Consortium

Autores: Myrto Barrdahl, Anja Rudolph, John L. Hopper, Melissa C. Southey, Annegien Broeks, Peter A. Fasching, Matthias W. Beckmann, Manuela Gago-Dominguez, J. Esteban Castelao, Pascal Guénel, Thérèse Truong, Stig E. Bojesen, Susan M. Gapstur, Mia M. Gaudet, Hermann Brenner, Volker Arndt, Hiltrud Brauch, Ute Hamann, Arto Mannermaa, Diether Lambrechts, Lynn Jongen, Dieter Flesch-Janys, Kathrin Thoene, Fe
Publicado en: International Journal of Cancer, Edición 141/9, 2017, Página(s) 1830-1840, ISSN 0020-7136
Editor: John Wiley & Sons Inc.
DOI: 10.1002/ijc.30859

Nipple aspirate fluid-A liquid biopsy for diagnosing breast health

Autores: Sadr-ul Shaheed, Catherine Tait, Kyriacos Kyriacou, Joanne Mullarkey, Wayne Burrill, Laurence H. Patterson, Richard Linforth, Mohamed Salhab, Chris W. Sutton
Publicado en: PROTEOMICS - Clinical Applications, Edición 11/9-10, 2017, Página(s) 1700015, ISSN 1862-8346
Editor: Wiley - VCH Verlag GmbH & CO. KGaA
DOI: 10.1002/prca.201700015

GnRH-dependent precocious puberty manifested at the age of 14 months in a girl with 47,XXX karyotype

Autores: Nicos Skordis, Eleana Ferrari, Aria Antoniadou, Leonidas A. Phylactou, Pavlos Fanis, Vassos Neocleous
Publicado en: HORMONES, 2017, ISSN 1109-3099
Editor: Hellenic Endocrine Society
DOI: 10.14310/horm.2002.1740

First study on iron complexes in blood and organ samples from thalassaemic and normal laboratory mice using Mössbauer spectroscopy

Autores: George Charitou, Vlassis Petousis, Charalambos Tsertos, Yannis Parpottas, Marina Kleanthous, Marios Phylactides, Soteroula Christou
Publicado en: European Biophysics Journal, Edición 47/2, 2018, Página(s) 131-138, ISSN 0175-7571
Editor: Springer Verlag
DOI: 10.1007/s00249-017-1234-6

European contribution to the study of ROS: A summary of the findings and prospects for the future from the COST action BM1203 (EU-ROS)

Autores: Javier Egea, Isabel Fabregat, Yves M. Frapart, Pietro Ghezzi, Agnes Görlach, Thomas Kietzmann, Kateryna Kubaichuk, Ulla G. Knaus, Manuela G. Lopez, Gloria Olaso-Gonzalez, Andreas Petry, Rainer Schulz, Jose Vina, Paul Winyard, Kahina Abbas, Opeyemi S. Ademowo, Catarina B. Afonso, Ioanna Andreadou, Haike Antelmann, Fernando Antunes, Mutay Aslan, Markus M. Bachschmid, Rui M. Barbosa, Vsevolod Belous
Publicado en: Redox Biology, Edición 13, 2017, Página(s) 94-162, ISSN 2213-2317
Editor: Elsevier BV
DOI: 10.1016/j.redox.2017.05.007

Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect

Autores: P. Fanis, N. Skordis, S. Frangos, G. Christopoulos, E. Spanou-Aristidou, E. Andreou, P. Manoli, M. Mavrommatis, S. Nicolaou, M. Kleanthous, M. A. Cariolou, V. Christophidou-Anastasiadou, G. A. Tanteles, L. A. Phylactou, V. Neocleous
Publicado en: Journal of Endocrinological Investigation, Edición 41/10, 2018, Página(s) 1149-1157, ISSN 1720-8386
Editor: Springer
DOI: 10.1007/s40618-018-0841-0

Selection and Identification of Skeletal-Muscle-Targeted RNA Aptamers

Autores: Styliana Philippou, Nikolaos P. Mastroyiannopoulos, Neoklis Makrides, Carsten W. Lederer, Marina Kleanthous, Leonidas A. Phylactou
Publicado en: Molecular Therapy - Nucleic Acids, Edición 10, 2018, Página(s) 199-214, ISSN 2162-2531
Editor: Nature Publishing Group
DOI: 10.1016/j.omtn.2017.12.004

Rapid and Sensitive Assessment of Globin Chains for Gene and Cell Therapy of Hemoglobinopathies

Autores: Constantinos C. Loucari, Petros Patsali, Thamar B. van Dijk, Coralea Stephanou, Panayiota Papasavva, Maria Zanti, Ryo Kurita, Yukio Nakamura, Soteroulla Christou, Maria Sitarou, Sjaak Philipsen, Carsten W. Lederer, Marina Kleanthous
Publicado en: Human Gene Therapy Methods, Edición 29/1, 2018, Página(s) 60-74, ISSN 1946-6536
Editor: Mary Ann Liebert Inc.
DOI: 10.1089/hgtb.2017.190

Intrathecal gene therapy in mouse models expressing CMT1X mutations

Autores: A Kagiava, C Karaiskos, J Richter, C Tryfonos, G Lapathitis, I Sargiannidou, C Christodoulou, K A Kleopa
Publicado en: Human Molecular Genetics, Edición 27/8, 2018, Página(s) 1460-1473, ISSN 0964-6906
Editor: Oxford University Press
DOI: 10.1093/hmg/ddy056

Short-hairpin RNA against aberrant HBB IVSI-110(G>A) mRNA restores β-globin levels in a novel cell model and acts as mono- and combination therapy for β-thalassemia in primary hematopoietic stem cells

Autores: Petros Patsali, Panayiota Papasavva, Coralea Stephanou, Soteroulla Christou, Maria Sitarou, Michael N. Antoniou, Carsten W. Lederer, Marina Kleanthous
Publicado en: Haematologica, Edición 103/9, 2018, Página(s) e419-e423, ISSN 0390-6078
Editor: Ferrata Storti Foundation
DOI: 10.3324/haematol.2018.189357

Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia

Autores: Stefania Byrou, G. Mike Makrigiorgos, Agathoklis Christofides, Ioannis Kallikas, Thessalia Papasavva, Marina Kleanthous
Publicado en: PLOS ONE, Edición 13/7, 2018, Página(s) e0200348, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0200348

Aniridia due to a novel microdeletion affecting $$\textit{PAX6}$$PAX6 regulatory enhancers: case report and review of the literature

Autores: Andreas Syrimis, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Michael Nicolaou, Eleni Loukianou, Violetta Christophidou-Anastasiadou, Stavros Malas, Carolina Sismani, George A. Tanteles
Publicado en: Journal of Genetics, Edición 97/2, 2018, Página(s) 555-562, ISSN 0022-1333
Editor: Indian Academy of Sciences
DOI: 10.1007/s12041-018-0925-9

Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

Autores: Constantia Aristidou, Athina Theodosiou, Andria Ketoni, Mads Bak, Mana M. Mehrjouy, Niels Tommerup, Carolina Sismani
Publicado en: Molecular Cytogenetics, Edición 11/1, 2018, ISSN 1755-8166
Editor: BioMed Central
DOI: 10.1186/s13039-018-0384-2

Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation

Autores: Andreas Syrimis, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Michael Nicolaou, Eleni Loukianou, Carolina Sismani, Stavros Malas, Violetta Christophidou‑Anastasiadou, George Tanteles
Publicado en: Molecular Medicine Reports, 2018, ISSN 1791-2997
Editor: Spandidos Publications
DOI: 10.3892/mmr.2018.9126

MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT

Autores: Anna Keravnou, Marios Ioannides, Charalambos Loizides, Kyriakos Tsangaras, Achilleas Achilleos, Petros Mina, Elena Kypri, Michael D. Hadjidaniel, Maria Neofytou, Skevi Kyriacou, Carolina Sismani, George Koumbaris, Philippos C. Patsalis
Publicado en: PLOS ONE, Edición 13/6, 2018, Página(s) e0199010, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0199010

LRSAM1 Depletion Affects Neuroblastoma SH-SY5Y Cell Growth and Morphology: The LRSAM1 c.2047-1G>A Loss-of-Function Variant Fails to Rescue The Phenotype

Autores: Anna Minaidou, Paschalis Nicolaou, Kyproula Christodoulou
Publicado en: Cell Journal, 2018, ISSN 2228-5806
Editor: Royan Institute
DOI: 10.22074/cellj.2018.5352

Carpal Tunnel Syndrome

Autores: Kleopas A. Kleopa
Publicado en: Annals of Internal Medicine, Edición 163/5, 2015, Página(s) ITC1, ISSN 0003-4819
Editor: American College of Physicians
DOI: 10.7326/AITC201509010

MnSOD and CAT polymorphisms modulate the effect of the Mediterranean diet on breast cancer risk among Greek-Cypriot women

Autores: Maria G. Kakkoura, Christiana A. Demetriou, Maria A. Loizidou, Giorgos Loucaides, Ioanna Neophytou, Simon Malas, Kyriacos Kyriacou, Andreas Hadjisavvas
Publicado en: European Journal of Nutrition, Edición 55/4, 2016, Página(s) 1535-1544, ISSN 1436-6207
Editor: Dr. Dietrich Steinkopff Verlag
DOI: 10.1007/s00394-015-0971-5

Dementia caregiver burden association with community participation aspect of social capital

Autores: Evridiki Papastavrou, Panayiota Andreou, Nicos Middleton, Haritini Tsangari, Savvas Papacostas
Publicado en: Journal of Advanced Nursing, Edición 71/12, 2015, Página(s) 2898-2910, ISSN 0309-2402
Editor: Blackwell Publishing Inc.
DOI: 10.1111/jan.12762

Identifying Non–Duchenne Muscular Dystrophy–Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs

Autores: Michele A. Gatheridge, Jennifer M. Kwon, Jerry M. Mendell, Günter Scheuerbrandt, Stuart J. Moat, François Eyskens, Cheryl Rockman-Greenberg, Anthi Drousiotou, Robert C. Griggs
Publicado en: JAMA Neurology, Edición 73/1, 2016, Página(s) 111, ISSN 2168-6149
Editor: American Medical Association
DOI: 10.1001/jamaneurol.2015.3537

Titin antibodies in “seronegative” myasthenia gravis — A new role for an old antigen

Autores: C. Stergiou, K. Lazaridis, V. Zouvelou, J. Tzartos, R. Mantegazza, C. Antozzi, F. Andreetta, A. Evoli, F. Deymeer, G. Saruhan-Direskeneli, H. Durmus, T. Brenner, A. Vaknin, S. Berrih-Aknin, A. Behin, T. Sharshar, M. De Baets, M. Losen, P. Martinez-Martinez, K.A. Kleopa, E. Zamba-Papanicolaou, T. Kyriakides, A. Kostera-Pruszczyk, P. Szczudlik, B. Szyluk, D. Lavrnic, I. Basta, S. Peric, C. Tallaksen
Publicado en: Journal of Neuroimmunology, Edición 292, 2016, Página(s) 108-115, ISSN 0165-5728
Editor: Elsevier BV
DOI: 10.1016/j.jneuroim.2016.01.018

Cognitive-Linguistic Performance and Quality of Life in Healthy Aging

Autores: Fofi Constantinidou, Juliana Prokopiou, Maria Nikou, Savvas Papacostas
Publicado en: Folia Phoniatrica et Logopaedica, Edición 67/3, 2016, Página(s) 145-155, ISSN 1021-7762
Editor: S. Karger AG
DOI: 10.1159/000440835

Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome

Autores: Gabriela E. Jones, Lisa Robertson, Amit Maniyar, Christos Shammas, Marie M. Phelan, Pradeep C. Vasudevan, George A. Tanteles
Publicado en: American Journal of Medical Genetics Part A, Edición 170/3, 2016, Página(s) 754-759, ISSN 1552-4825
Editor: Wiley-Liss Inc
DOI: 10.1002/ajmg.a.37511

Vestibular evoked myogenic potentials (VEMPs): Tailoring methodology to specific conditions

Autores: Eleftherios S. Papathanasiou
Publicado en: Clinical Neurophysiology, Edición 127/6, 2016, Página(s) 2520-2521, ISSN 1388-2457
Editor: Elsevier BV
DOI: 10.1016/j.clinph.2016.03.004

Human and primate-specific microRNAs in cancer: Evolution, and significance in comparison with more distantly-related research models

Autores: Costas Koufaris
Publicado en: BioEssays, Edición 38/3, 2016, Página(s) 286-294, ISSN 0265-9247
Editor: John Wiley & Sons Inc.
DOI: 10.1002/bies.201500135

Association between Echinococcus granulosus infection and cancer risk – a pilot study in Cyprus

Autores: Katerina Oikonomopoulou, Herbert Yu, Zhanwei Wang, Stella K. Vasiliou, Davor Brinc, Georgios Christofi, Marilena Theodorou, Pavlos Pavlou, Andreas Hadjisavvas, Christiana A. Demetriou, Kyriacos Kyriacou, Eleftherios P. Diamandis
Publicado en: Clinical Chemistry and Laboratory Medicine (CCLM), Edición 54/12, 2016, ISSN 1434-6621
Editor: Walter de Gruyter GmbH & Co. KG
DOI: 10.1515/cclm-2016-0125

Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis

Autores: Barnaby Clark, Claire Shooter, Frances Smith, David Brawand, Laura Steedman, Matthew Oakley, Peter Rushton, Helen Rooks, Xunde Wang, Anthi Drousiotou, Andriani Kyrri, Michael Hadjigavriel, Andrew Will, Chris Fisher, Douglas R. Higgs, Marion Phylipsen, Cornelis Harteveld, Marina Kleanthous, Swee Lay Thein
Publicado en: British Journal of Haematology, Edición 180/1, 2018, Página(s) 160-164, ISSN 0007-1048
Editor: Blackwell Publishing Inc.
DOI: 10.1111/bjh.14294

Hb A 2 Episkopi – a novel δ -globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot–Lebanese descent

Autores: Carsten W. Lederer, Eleni Pavlou, George A. Tanteles, Paola Evangelidou, Carolina Sismani, Annita Kolnagou, Maria Sitarou, Soteroulla Christou, Michael Hadjigavriel, Marina Kleanthous
Publicado en: Hematology, Edición 22/5, 2016, Página(s) 304-309, ISSN 1607-8454
Editor: Tailor & Francis Online
DOI: 10.1080/10245332.2016.1265043

Genomic and genetic studies of systemic sclerosis: A systematic review

Autores: Paraskevi Chairta, Paschalis Nicolaou, Kyproula Christodoulou
Publicado en: Human Immunology, Edición 78/2, 2017, Página(s) 153-165, ISSN 0198-8859
Editor: Elsevier BV
DOI: 10.1016/j.humimm.2016.10.017

BRCA1 and BRCA2 mutation testing in Cyprus; a population based study

Autores: M.A. Loizidou, A. Hadjisavvas, P. Pirpa, E. Spanou, T. Delikurt, G.A. Tanteles, M. Daniel, P. Kountourakis, S. Malas, G. Ioannidis, I. Zouvani, E. Kakouri, D. Papamichael, Y. Marcou, V. Anastasiadou, K. Kyriacou
Publicado en: Clinical Genetics, Edición 91/4, 2017, Página(s) 611-615, ISSN 0009-9163
Editor: Blackwell Publishing Inc.
DOI: 10.1111/cge.12886

Oculo-Dento-Digital Dysplasia (ODDD) Due to a GJA1 Mutation: Report of a Case with Emphasis on Dental Manifestations

Autores: Christina Hadjichristou, Violetta Christophidou-Anastasiadou, Athina Bakopoulou, George Tanteles, Maria Loizidou, Kyriacos Kyriacou, Andreas Hadjisavvas, Konstantinos Michalakis, Argyris Pissiotis, Petros Koidis
Publicado en: The International Journal of Prosthodontics, Edición 30/3, 2017, Página(s) 280-285, ISSN 0893-2174
Editor: Quintessence Publishing Company
DOI: 10.11607/ijp.5130

A novel MKRN3 nonsense mutation causing familial central precocious puberty

Autores: Athanasios Christoforidis, Nicos Skordis, Pavlos Fanis, Meropi Dimitriadou, Maria Sevastidou, Marie M. Phelan, Vassos Neocleous, Leonidas A. Phylactou
Publicado en: Endocrine, Edición 56/2, 2017, Página(s) 446-449, ISSN 1355-008X
Editor: SpringerLink
DOI: 10.1007/s12020-017-1232-6

Development of a Predictive Pharmacophore Model and a 3D-QSAR Study for an in silico Screening of New Potent Bcr-Abl Kinase Inhibitors

Autores: Eleni Vrontaki, Georgia Melagraki, Stella Voskou, Marios Phylactides, Thomas Mavromoustakos, Marina Kleanthous, Antreas Afantitis
Publicado en: Mini-Reviews in Medicinal Chemistry, Edición 17/3, 2017, Página(s) 188-204, ISSN 1389-5575
Editor: Bentham Science Publishers
DOI: 10.2174/1389557516999160629101709

Suitability of small diagnostic peripheral-blood samples for cell-therapy studies

Autores: Coralea Stephanou, Panayiota Papasavva, Myria Zachariou, Petros Patsali, Marilena Epitropou, Petros Ladas, Ruba Al-Abdulla, Soteroulla Christou, Michael N. Antoniou, Carsten W. Lederer, Marina Kleanthous
Publicado en: Cytotherapy, Edición 19/2, 2017, Página(s) 311-326, ISSN 1465-3249
Editor: Taylor & Francis
DOI: 10.1016/j.jcyt.2016.11.007

Epidemiology of Amyotrophic Lateral Sclerosis in the Republic of Cyprus: A 25-Year Retrospective Study

Autores: Christiana A. Demetriou, Petros M. Hadjivasiliou, Kleopas A. Kleopa, Yiolanda P. Christou, Eleni Leonidou, Theodoros Kyriakides, Eleni Zamba-Papanicolaou
Publicado en: Neuroepidemiology, Edición 48/1-2, 2017, Página(s) 79-85, ISSN 0251-5350
Editor: S. Karger AG
DOI: 10.1159/000477126

A quantitative method for the assessment of dysarthrophonia in myasthenia gravis

Autores: Kostas Konstantopoulos, Yiolanda-Panayiota Christou, Paris Vogazianos, Eleni Zamba-Papanicolaou, Kleopas A. Kleopa
Publicado en: Journal of the Neurological Sciences, Edición 377, 2017, Página(s) 42-46, ISSN 0022-510X
Editor: Elsevier BV
DOI: 10.1016/j.jns.2017.03.045

Unsupervised detection and removal of muscle artifacts from scalp EEG recordings using canonical correlation analysis, wavelets and random forests

Autores: Maria N. Anastasiadou, Manolis Christodoulakis, Eleftherios S. Papathanasiou, Savvas S. Papacostas, Georgios D. Mitsis
Publicado en: Clinical Neurophysiology, Edición 128/9, 2017, Página(s) 1755-1769, ISSN 1388-2457
Editor: Elsevier BV
DOI: 10.1016/j.clinph.2017.06.247

The impact of experiential avoidance on the relations between illness representations, pain catastrophising and pain interference in chronic pain

Autores: Evangelos C. Karademas, Maria Karekla, Magdalini Flouri, Vasilis S. Vasiliou, Orestis Kasinopoulos, Savvas S. Papacostas
Publicado en: Psychology & Health, 2017, Página(s) 1-16, ISSN 0887-0446
Editor: Brunner - Routledge (US)
DOI: 10.1080/08870446.2017.1346193

Epidemiology of Huntington disease in Cyprus: A 20-year retrospective study

Autores: C.A. Demetriou, A. Heraclides, C. Salafori, G.A. Tanteles, K. Christodoulou, Y. Christou, E. Zamba-Papanicolaou
Publicado en: Clinical Genetics, Edición 93/3, 2018, Página(s) 656-664, ISSN 0009-9163
Editor: Blackwell Publishing Inc.
DOI: 10.1111/cge.13168

Recommendations for enterovirus diagnostics and characterisation within and beyond Europe

Autores: Heli Harvala, Eeva Broberg, Kimberley Benschop, Natasa Berginc, Shamez Ladhani, Petri Susi, Claus Christiansen, James McKenna, David Allen, Phoebe Makiello, Georgina McAllister, Mirabelli Carmen, Katherina Zakikhany, Robert Dyrdak, Xiaohui Nielsen, Tina Madsen, Joel Paul, Catherine Moore, Karin von Eije, Antonio Piralla, Mieke Carlier, Laura Vanoverschelde, Randy Poelman, Andrés Anton, F. Xavier
Publicado en: Journal of Clinical Virology, Edición 101, 2018, Página(s) 11-17, ISSN 1386-6532
Editor: Elsevier BV
DOI: 10.1016/j.jcv.2018.01.008

De novo unbalanced translocations have a complex history/aetiology

Autores: Maria Clara Bonaglia, Nehir Edibe Kurtas, Edoardo Errichiello, Sara Bertuzzo, Silvana Beri, Mana M. Mehrjouy, Aldesia Provenzano, Debora Vergani, Vanna Pecile, Francesca Novara, Paolo Reho, Marilena Carmela Di Giacomo, Giancarlo Discepoli, Roberto Giorda, Micheala A. Aldred, Cíntia Barros Santos-Rebouças, Andressa Pereira Goncalves, Diane N. Abuelo, Sabrina Giglio, Ivana Ricca, Fabrizia Franchi,
Publicado en: Human Genetics, Edición 137/10, 2018, Página(s) 817-829, ISSN 0340-6717
Editor: Springer Verlag
DOI: 10.1007/s00439-018-1941-9

Quantification of dysarthrοphonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutation

Autores: Kostas Konstantopoulos, Eleni Zamba-Papanicolaou, Kyproula Christodoulou
Publicado en: Neurological Sciences, Edición 39/9, 2018, Página(s) 1547-1550, ISSN 1590-1874
Editor: Springer Verlag
DOI: 10.1007/s10072-018-3453-8

The possible role of an autoimmune mechanism in the etiopathogenesis of Parkinson’s disease

Autores: Savvas Dalitis, Natalia Filippidou, George Krashias, Christina Christodoulou, Marios Pantzaris, Anastasia Lambrianides
Publicado en: Journal of Clinical Neuroscience, Edición 54, 2018, Página(s) 63-68, ISSN 0967-5868
Editor: Churchill Livingstone
DOI: 10.1016/j.jocn.2018.06.004

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

Autores: Xiang Shu, Lang Wu, Nikhil K Khankari, Xiao-Ou Shu, Thomas J Wang, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Roger L Milne, Marjanka K Schmidt, Paul D P Pharoah, Irene L Andrulis, David J Hunter, Jacques Simard, Douglas F Easton, Wei Zheng, Beeghly-Fadiel J Alicia, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Kristan J Aronson, Paul L Auer, Myrto Barrdahl, Caroline Bay
Publicado en: International Journal of Epidemiology, 2018, ISSN 0300-5771
Editor: Oxford University Press
DOI: 10.1093/ije/dyy201

Two unrelated individuals carrying rare mosaic deletions in TCF4 gene

Autores: Ludmila Kousoulidou, Angelos Alexandrou, Ioannis Papaevripidou, Paola Evangelidou, George Tanteles, Violetta C. Anastasiadou, Carolina Sismani
Publicado en: American Journal of Medical Genetics Part A, Edición 179/1, 2019, Página(s) 134-138, ISSN 1552-4825
Editor: Wiley-Liss Inc
DOI: 10.1002/ajmg.a.60692

Epidemiology of ATTRV30M neuropathy in Cyprus and the modifier effect of complement C1q on the age of disease onset

Autores: Savanna Andreou, Elena Panayiotou, Kyriaki Michailidou, Panayiota Pirpa, Andreas Hadjisavvas, Adonis El Salloukh, Daniel Barnes, Antonis Antoniou, Petros Agathangelou, Katia Papastavrou, Kyproula Christodoulou, George A. Tanteles, Theodoros Kyriakides
Publicado en: Amyloid, Edición 25/4, 2018, Página(s) 220-226, ISSN 1350-6129
Editor: Parthenon Publishing Group
DOI: 10.1080/13506129.2018.1534731

Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia

Autores: Anna Malekkou, Maura Samarani, Anthi Drousiotou, Christina Votsi, Sandro Sonnino, Marios Pantzaris, Elena Chiricozzi, Eleni Zamba-Papanicolaou, Massimo Aureli, Nicoletta Loberto, Kyproula Christodoulou
Publicado en: International Journal of Molecular Sciences, Edición 19/10, 2018, Página(s) 3099, ISSN 1422-0067
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms19103099

Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

Autores: Constantia Aristidou, Athina Theodosiou, Mads Bak, Mana M. Mehrjouy, Efthymia Constantinou, Angelos Alexandrou, Ioannis Papaevripidou, Violetta Christophidou-Anastasiadou, Nicos Skordis, Sophia Kitsiou-Tzeli, Niels Tommerup, Carolina Sismani
Publicado en: PLOS ONE, Edición 13/10, 2018, Página(s) e0205298, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0205298

Improved cellular uptake of perfluorocarbon nanoparticles for in vivo murine cardiac 19F MRS/MRI and temporal tracking of progenitor cells

Autores: Christakis Constantinides, Eileen McNeill, Ricardo Carnicer, Ayman Al Haj Zen, Raquel Sainz-Urruela, Andrew Shaw, Jyoti Patel, Edyta Swider, Rita Alonaizan, Louiza Potamiti, Andreas Hadjisavvas, Sergi Padilla-Parra, Kyriacos Kyriacou, Mangala Srinivas, Carolyn A. Carr
Publicado en: Nanomedicine: Nanotechnology, Biology and Medicine, Edición 18, 2019, Página(s) 391-401, ISSN 1549-9634
Editor: Elsevier BV
DOI: 10.1016/j.nano.2018.10.014

Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report

Autores: Anna Keravnou, Evy Bashiardes, Kyriaki Michailidou, Marinos Soteriou, Areti Moushi, Marios Cariolou
Publicado en: BMC Medical Genetics, Edición 19/1, 2018, ISSN 1471-2350
Editor: BioMed Central
DOI: 10.1186/s12881-018-0728-0

Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia

Autores: Vassos Neocleous, Pavlos Fanis, Leonidas A. Phylactou, Nicos Skordis
Publicado en: Frontiers in Endocrinology, Edición 9, 2018, ISSN 1664-2392
Editor: Frontiers Media
DOI: 10.3389/fendo.2018.00733

Genetic Testing and Clinical Management Practices for Variants in Non- BRCA1 / 2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group

Autores: Sarah M. Nielsen, Diana M. Eccles, Iris L. Romero, Fahd Al-Mulla, Judith Balmaña, Michela Biancolella, Rien Blok, Maria Adelaide Caligo, Mariarosaria Calvello, Gabriele Lorenzo Capone, Pietro Cavalli, T.L. Chris Chan, Kathleen B.M. Claes, Laura Cortesi, Fergus J. Couch, Miguel de la Hoya, Simona De Toffol, Orland Diez, Susan M. Domchek, Ros Eeles, Anna Efremidis, Florentia Fostira, David Goldgar,
Publicado en: JCO Precision Oncology, Edición 2, 2018, Página(s) 1-42, ISSN 2473-4284
Editor: ASCO
DOI: 10.1200/po.18.00091

Electrophysiological testing in concussion: A guide to clinical applications

Autores: Eleftherios S Papathanasiou, Thomas Cronin, Barry Seemungal, Jaswinder Sandhu
Publicado en: Journal of Concussion, Edición 2, 2018, Página(s) 205970021881263, ISSN 2059-7002
Editor: SAGE Publications
DOI: 10.1177/2059700218812634

Sequential Role of SOXB2 Factors in GABAergic Neuron Specification of the Dorsal Midbrain

Autores: Neoklis Makrides, Elena Panayiotou, Pavlos Fanis, Christos Karaiskos, George Lapathitis, Stavros Malas
Publicado en: Frontiers in Molecular Neuroscience, Edición 11, 2018, ISSN 1662-5099
Editor: Frontiers Research Foundation
DOI: 10.3389/fnmol.2018.00152

Regulatory role of oligodendrocyte gap junctions in inflammatory demyelination

Autores: Christos P. Papaneophytou, Elena Georgiou, Christos Karaiskos, Irene Sargiannidou, Kyriaki Markoullis, Mona M. Freidin, Charles K. Abrams, Kleopas A. Kleopa
Publicado en: Glia, Edición 66/12, 2018, Página(s) 2589-2603, ISSN 0894-1491
Editor: John Wiley & Sons Inc.
DOI: 10.1002/glia.23513

Evaluation of Epstein-Barr virus-specific antibodies in Cypriot multiple sclerosis patients

Autores: Elie Deeba, Dana Koptides, Efthychia Gaglia, Astero Constantinou, Anastasia Lambrianides, Marios Pantzaris, Georges Krashias, Christina Christodoulou
Publicado en: Molecular Immunology, Edición 105, 2019, Página(s) 270-275, ISSN 0161-5890
Editor: Pergamon Press
DOI: 10.1016/j.molimm.2018.12.010

Deregulation of LRSAM1 expression impairs the levels of TSG101, UBE2N, VPS28, MDM2 and EGFR

Autores: Anna Minaidou, Paschalis Nicolaou, Kyproula Christodoulou
Publicado en: PLOS ONE, Edición 14/2, 2019, Página(s) e0211814, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0211814

De novo mosaic MECP2 mutation in a female with Rett syndrome

Autores: Angelos Alexandrou, Ioannis Papaevripidou, Ioanna Maria Alexandrou, Athina Theodosiou, Paola Evangelidou, Ludmila Kousoulidou, George Tanteles, Violetta Christophidou-Anastasiadou, Carolina Sismani
Publicado en: Clinical Case Reports, Edición 7/2, 2019, Página(s) 366-370, ISSN 2050-0904
Editor: John Wiley & Sons Ltd
DOI: 10.1002/ccr3.1985

Gene variants of adhesion molecules predispose to MS: A case-control study

Autores: Efthimios Dardiotis, Elena Panayiotou, Vasileios Siokas, Athina-Maria Aloizou, Kyproula Christodoulou, Andreas Hadjisavvas, Marios Pantzaris, Nikolaos Grigoriadis, Georgios M. Hadjigeorgiou, Theodoros Kyriakides
Publicado en: Neurology Genetics, Edición 5/1, 2019, Página(s) e304, ISSN 2376-7839
Editor: Wolters Kluwer
DOI: 10.1212/nxg.0000000000000304

Epilepsy Pioneers including their Short Biography in Cyprus from Past to Present and Current Educational Programs in Cyprus

Autores: Eleftherios Stelios Papathanasiou, Stelios Georgiades, Savvas Symeon Papacostas
Publicado en: Journal of Pediatric Epilepsy, Edición 08/01, 2019, Página(s) 011-014, ISSN 2146-457X
Editor: Thieme Medical Publishers
DOI: 10.1055/s-0039-1677788

The provision of epilepsy care across Europe 2017: A 17-year follow-up survey

Autores: Johan Zelano, Judith Klecki, Jakob Christensen, Torbjörn Tomson, Kristina Malmgren
Publicado en: Epilepsia Open, Edición 4/1, 2019, Página(s) 144-152, ISSN 2470-9239
Editor: John Wiley & Sons, Inc
DOI: 10.1002/epi4.12306

Theranostics of Genetic Diseases

Autores: Roberto Gambari, Marina Kleanthous
Publicado en: Molecular Diagnosis & Therapy, Edición 23/2, 2019, Página(s) 153-154, ISSN 1177-1062
Editor: Adis International Ltd.
DOI: 10.1007/s40291-019-00395-0

Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases

Autores: Panayiota Papasavva, Marina Kleanthous, Carsten W. Lederer
Publicado en: Molecular Diagnosis & Therapy, Edición 23/2, 2019, Página(s) 201-222, ISSN 1177-1062
Editor: Adis International Ltd.
DOI: 10.1007/s40291-019-00392-3

Disruptive Technology: CRISPR/Cas-Based Tools and Approaches

Autores: Petros Patsali, Marina Kleanthous, Carsten W. Lederer
Publicado en: Molecular Diagnosis & Therapy, Edición 23/2, 2019, Página(s) 187-200, ISSN 1177-1062
Editor: Adis International Ltd.
DOI: 10.1007/s40291-019-00391-4

Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference

Autores: Stephan Lobitz, Paul Telfer, Elena Cela, Bichr Allaf, Michael Angastiniotis, Carolina Backman Johansson, Catherine Badens, Celeste Bento, Marelle J. Bouva, Duran Canatan, Matthew Charlton, Cathy Coppinger, Yvonne Daniel, Marianne de Montalembert, Patrick Ducoroy, Elena Dulin, Ralph Fingerhut, Claudia Frömmel, Marina García-Morin, Béatrice Gulbis, Ute Holtkamp, Baba Inusa, John James, Marina Kle
Publicado en: British Journal of Haematology, Edición 183/4, 2018, Página(s) 648-660, ISSN 0007-1048
Editor: Blackwell Publishing Inc.
DOI: 10.1111/bjh.15600

A Novel BaEVRless-Pseudotyped γ-Globin Lentiviral Vector Drives High and Stable Fetal Hemoglobin Expression and Improves Thalassemic Erythropoiesis In Vitro

Autores: Ekati Drakopoulou, Maria Georgomanoli, Carsten W. Lederer, Marina Kleanthous, Caroline Costa, Ornellie Bernadin, François-Loïc Cosset, Ersi Voskaridou, Els Verhoeyen, Eleni Papanikolaou, Nicholas P. Anagnou
Publicado en: Human Gene Therapy, Edición 30/5, 2019, Página(s) 601-617, ISSN 1043-0342
Editor: Mary Ann Liebert Inc.
DOI: 10.1089/hum.2018.022

46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene

Autores: Vassos Neocleous, Pavlos Fanis, Feride Cinarli, Vasilis Kokotsis, Anastasios Oulas, Meropi Toumba, George M. Spyrou, Leonidas A. Phylactou, Nicos Skordis
Publicado en: Hormones, Edición 18/3, 2019, Página(s) 315-320, ISSN 1109-3099
Editor: Hellenic Endocrine Society
DOI: 10.1007/s42000-019-00116-6

A novel heterozygous duplication of the SLC12A3 gene in two Gitelman syndrome pedigrees: indicating a founder effect

Autores: Pavlos Fanis, Elisavet Efstathiou, Vassos Neocleous, Leonidas A. Phylactou, Adamos Hadjipanayis
Publicado en: Journal of Genetics, Edición 98/1, 2019, ISSN 0022-1333
Editor: Indian Academy of Sciences
DOI: 10.1007/s12041-019-1056-7

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

Autores: Viorica Chelban, Matthew P. Wilson, Jodi Warman Chardon, Jana Vandrovcova, M. Natalia Zanetti, Eleni Zamba‐Papanicolaou, Stephanie Efthymiou, Simon Pope, Maria R. Conte, Giancarlo Abis, Yo‐Tsen Liu, Eloise Tribollet, Nourelhoda A. Haridy, Juan A. Botía, Mina Ryten, Paschalis Nicolaou, Anna Minaidou, Kyproula Christodoulou, Kristin D. Kernohan, Alison Eaton, Matthew Osmond, Yoko Ito, Pierre Bo
Publicado en: Annals of Neurology, Edición 86/2, 2019, Página(s) 225-240, ISSN 0364-5134
Editor: John Wiley & Sons Inc.
DOI: 10.1002/ana.25524

Adjustment of vascular 2-deoxy-2-[18F]fluoro-d-glucose uptake values over time through a modeling approach

Autores: Pavlos P. Kafouris, Iosif P. Koutagiar, Alexandros T. Georgakopoulos, Nikoletta K. Pianou, Marinos G. Metaxas, George M. Spyrou, Constantinos D. Anagnostopoulos
Publicado en: The International Journal of Cardiovascular Imaging, Edición 35/5, 2019, Página(s) 955-964, ISSN 1569-5794
Editor: Kluwer Academic Publishers
DOI: 10.1007/s10554-018-01514-4

Differential genetic and functional background in inflammatory bowel disease phenotypes of a Greek population: a systems bioinformatics approach

Autores: Maria Gazouli, Nikolas Dovrolis, Andre Franke, George M. Spyrou, Leonardo A. Sechi, George Kolios
Publicado en: Gut Pathogens, Edición 11/1, 2019, ISSN 1757-4749
Editor: BioMed Central
DOI: 10.1186/s13099-019-0312-y

Clinical course and outcome after kidney transplantation in patients with C3 glomerulonephritis due to CFHR5 nephropathy

Autores: Eleni Frangou, Agathi Varnavidou-Nicolaidou, Panayiotis Petousis, Andreas Soloukides, Elena Theophanous, Isavella Savva, Nicos Michael, Elpida Toumasi, Dora Georgiou, Galatia Stylianou, Richard Mean, Natasa Anastasiadou, Yiannis Athanasiou, Michalis Zavros, Kyriacos Kyriacou, Constantinos Deltas, Vassilis Hadjianastassiou
Publicado en: Nephrology Dialysis Transplantation, Edición 34/10, 2019, Página(s) 1780-1788, ISSN 0931-0509
Editor: Oxford University Press
DOI: 10.1093/ndt/gfz021

Wide phenotypic variability in RSPH9-associated primary ciliary dyskinesia: review of a case-series from Cyprus

Autores: Panayiotis K. Yiallouros, Panayiotis Kouis, Panayiota Pirpa, Kyriaki Michailidou, Maria A. Loizidou, Louiza Potamiti, Margarita Kalyva, Giorgos Koutras, Kyriacos Kyriacou, Andreas Hadjisavvas
Publicado en: Journal of Thoracic Disease, Edición 11/5, 2019, Página(s) 2067-2075, ISSN 2072-1439
Editor: Pioneer Bioscience Publishing Company (PBPC)
DOI: 10.21037/jtd.2019.04.71

Graph Theoretical Characteristics of EEG-Based Functional Brain Networks in Patients With Epilepsy: The Effect of Reference Choice and Volume Conduction

Autores: Maria N. Anastasiadou, Manolis Christodoulakis, Eleftherios S. Papathanasiou, Savvas S. Papacostas, Avgis Hadjipapas, Georgios D. Mitsis
Publicado en: Frontiers in Neuroscience, Edición 13, 2019, ISSN 1662-453X
Editor: Frontiers Media
DOI: 10.3389/fnins.2019.00221

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Autores: Yen-Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Katherine Tashman, Felecia Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Erin L. Heinzen, Ryan S. Dhindsa, Kate E. Stanley, Gianpiero L. Cavalleri, Hakon Hakonarson, Ingo Helbig, Roland Krause, Patrick May, Sarah Weckhuysen, Slavé Petrovski, Sitharthan Kamalakaran, San
Publicado en: The American Journal of Human Genetics, Edición 105/2, 2019, Página(s) 267-282, ISSN 0002-9297
Editor: University of Chicago Press
DOI: 10.1016/j.ajhg.2019.05.020

Whole brain and corpus callosum diffusion tensor metrics: How do they correlate with visual and verbal memory performance in chronic traumatic brain injury

Autores: Charalambos Yiannakkaras,Nikos Konstantinou, Fofi Constantinidou, Eva Pettemeridou, Eleni Eracleous, Savvas S. Papacostas, Ioannis Seimenis
Publicado en: Journal of Integrative Neuroscience, Edición 18/2, 2019, Página(s) 95, ISSN 1757-448X
Editor: IMR Press
DOI: 10.31083/j.jin.2019.02.144

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Autores: Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Pisani, Conceicao Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco,
Publicado en: Nature Communications, Edición 10/1, 2019, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-019-10910-w

Mechanisms of activation induced by antiphospholipid antibodies in multiple sclerosis: Potential biomarkers of disease?

Autores: Natalia Filippidou, George Krashias, Christina Christodoulou, Marios Pantzaris, Anastasia Lambrianides
Publicado en: Journal of Immunological Methods, Edición 474, 2019, Página(s) 112663, ISSN 0022-1759
Editor: Elsevier BV
DOI: 10.1016/j.jim.2019.112663

Complete sequence analysis of human toll-like receptor 3 gene in natural killer cells of multiple sclerosis patients

Autores: Elie Deeba, Dana Koptides, Anastasia Lambrianides, Marios Pantzaris, George Krashias, Christina Christodoulou
Publicado en: Multiple Sclerosis and Related Disorders, Edición 33, 2019, Página(s) 100-106, ISSN 2211-0348
Editor: Elsevier
DOI: 10.1016/j.msard.2019.05.027

Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X

Autores: A Kagiava, J Richter, C Tryfonos, C Karaiskos, A J Heslegrave, I Sargiannidou, A M Rossor, H Zetterberg, M M Reilly, C Christodoulou, K A Kleopa
Publicado en: Human Molecular Genetics, Edición 28/21, 2019, Página(s) 3528-3542, ISSN 0964-6906
Editor: Oxford University Press
DOI: 10.1093/hmg/ddz199

Molecular epidemiology of enteroviruses in Cyprus 2008-2017

Autores: Jan Richter, Christina Tryfonos, Christina Christodoulou
Publicado en: PLOS ONE, Edición 14/8, 2019, Página(s) e0220938, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0220938

Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient

Autores: Stephanie Christoforou, Kyproula Christodoulou, Violetta Anastasiadou, Paola Nicolaides
Publicado en: European Journal of Medical Genetics, Edición 63/3, 2020, Página(s) 103765, ISSN 1769-7212
Editor: Elsevier BV
DOI: 10.1016/j.ejmg.2019.103765

Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation

Autores: Antonis Ververis, Rana Dajani, Pantelitsa Koutsou, Ahmad Aloqaily, Carol Nelson-Williams, Erin Loring, Ala Arafat, Ammar Fayez Mubaidin, Khalid Horany, Mai B Bader, Yaqoub Al-Baho, Bushra Ali, Abdurrahman Muhtaseb, Tyrone DeSpenza Jr, Abdelkarim A Al-Qudah, Lefkos T Middleton, Eleni Zamba-Papanicolaou, Richard Lifton, Kyproula Christodoulou
Publicado en: Journal of Medical Genetics, Edición 57/3, 2020, Página(s) 178-186, ISSN 0022-2593
Editor: British Medical Association
DOI: 10.1136/jmedgenet-2019-106108

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Autores: Stephanie Efthymiou, Vincenzo Salpietro, Nancy Malintan, Mallory Poncelet, Yamna Kriouile, Sara Fortuna, Rita De Zorzi, Katelyn Payne, Lindsay B Henderson, Andrea Cortese, Sateesh Maddirevula, Nadia Alhashmi, Sarah Wiethoff, Mina Ryten, Juan A Botia, Vincenzo Provitera, Markus Schuelke, Jana Vandrovcova, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Ar
Publicado en: Brain, Edición 142/10, 2019, Página(s) 2948-2964, ISSN 0006-8950
Editor: Oxford University Press
DOI: 10.1093/brain/awz248

Prevalence of Anti-JC Virus (JCV) Antibodies in the Multiple Sclerosis (MS) Population in Cyprus: A Retrospective Study

Autores: Sakis Lambrianides, Christiana A. Demetriou, Andis Tillyris, Elena Kkolou, Eftychia Gaglia, Eleni Agkastinioti, Eleni Leonidou, Yiolanda-Panayiota Christou, Savvas S. Papacostas, Kleopas A. Kleopa, Theodoros Kyriakides, Marios Pantzaris
Publicado en: Neurology Research International, Edición 2019, 2019, Página(s) 1-5, ISSN 2090-1852
Editor: Hindawi Publishing Corporation
DOI: 10.1155/2019/3741260

57Fe enrichment in mice for β-thalassaemia studies via Mössbauer spectroscopy of blood samples

Autores: George Charitou, Charalambos Tsertos, Yannis Parpottas, Marina Kleanthous, Carsten W. Lederer, Marios Phylactides
Publicado en: European Biophysics Journal, Edición 48/7, 2019, Página(s) 635-643, ISSN 0175-7571
Editor: Springer Verlag
DOI: 10.1007/s00249-019-01389-w

MS-275 Chemical Analogues Promote Hemoglobin Production and Erythroid Differentiation of K562 Cells

Autores: Stella Voskou, Marios Phylactides, Andreas Afantitis, Georgia Melagraki, Andreas Tsoumanis, Panayotis A. Koutentis, Tina Mitsidi, Styliana I. Mirallai, Marina Kleanthous
Publicado en: Hemoglobin, Edición 43/2, 2019, Página(s) 116-121, ISSN 0363-0269
Editor: Marcel Dekker Inc.
DOI: 10.1080/03630269.2019.1626740

A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β‐thalassemia major

Autores: Pavlos Fanis, Ioanna Kousiappa, Marios Phylactides, Andreani Kyrri, Michael Hadjigavriel, Soteroula Christou, Maria Sitarou, Marina Kleanthous
Publicado en: Human Mutation, Edición 40/10, 2019, Página(s) 1768-1780, ISSN 1059-7794
Editor: John Wiley & Sons Inc.
DOI: 10.1002/humu.23817

Correction of IVS I-110(G>A) β-thalassemia by CRISPR/Cas-and TALEN-mediated disruption of aberrant regulatory elements in human hematopoietic stem and progenitor cells

Autores: Petros Patsali, Giandomenico Turchiano, Panayiota Papasavva, Marianna Romito, Constantinos C. Loucari, Coralea Stephanou, Soteroulla Christou, Maria Sitarou, Claudio Mussolino, Tatjana I. Cornu, Michael N. Antoniou, Carsten W. Lederer, Toni Cathomen, Marina Kleanthous
Publicado en: Haematologica, Edición 104/11, 2019, Página(s) e497-e501, ISSN 0390-6078
Editor: Ferrata Storti Foundation
DOI: 10.3324/haematol.2018.215178

Evaluation of associations between genetically predicted circulating protein biomarkers and breast cancer risk

Autores: Xiang Shu, Jiandong Bao, Lang Wu, Jirong Long, Xiao‐Ou Shu, Xingyi Guo, Yaohua Yang, Kyriaki Michailidou, Manjeet K. Bolla, Qin Wang, Joe Dennis, Irene L. Andrulis, Jose E. Castelao, Thilo Dörk, Manuela Gago‐Dominguez, Montserrat García‐Closas, Graham G. Giles, Artitaya Lophatananon, Kenneth Muir, Håkan Olsson, Gadi Rennert, Emmanouil Saloustros, Rodney J. Scott, Melissa C. Southey, Paul
Publicado en: International Journal of Cancer, Edición 146/8, 2019, Página(s) 2130-2138, ISSN 0020-7136
Editor: John Wiley & Sons Inc.
DOI: 10.1002/ijc.32542

The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis

Autores: Vassos Neocleous, Pavlos Fanis, Meropi Toumba, Charilaos Stylianou, Michalis Picolos, Elena Andreou, Andreas Kyriakou, Michalis Iasonides, Stella Nicolaou, Tassos C. Kyriakides, George A. Tanteles, Nicos Skordis, Leonidas A. Phylactou
Publicado en: Hormone and Metabolic Research, Edición 51/09, 2019, Página(s) 586-594, ISSN 0018-5043
Editor: Georg Thieme Verlag
DOI: 10.1055/a-0957-3297

Systemic Evaluation of Chimeric LNA/2′-O-Methyl Steric Blockers for Myotonic Dystrophy Type 1 Therapy

Autores: Melina Christou, Jesper Wengel, Kleitos Sokratous, Kyriacos Kyriacou, Georgios Nikolaou, Leonidas A. Phylactou, Nikolaos P. Mastroyiannopoulos
Publicado en: Nucleic Acid Therapeutics, Edición 30/2, 2020, Página(s) 80-93, ISSN 2159-3337
Editor: Mary Ann Liebert Inc.
DOI: 10.1089/nat.2019.0811

Re-evaluating genetic variants identified in candidate gene studies of breast cancer risk using data from nearly 280,000 women of Asian and European ancestry

Autores: Yaohua Yang, Xiang Shu, Xiao-ou Shu, Manjeet K. Bolla, Sun-Seog Kweon, Qiuyin Cai, Kyriaki Michailidou, Qin Wang, Joe Dennis, Boyoung Park, Keitaro Matsuo, Ava Kwong, Sue Kyung Park, Anna H. Wu, Soo Hwang Teo, Motoki Iwasaki, Ji-Yeob Choi, Jingmei Li, Mikael Hartman, Chen-Yang Shen, Kenneth Muir, Artitaya Lophatananon, Bingshan Li, Wanqing Wen, Yu-Tang Gao, Yong-Bing Xiang, Kristan J. Aronson, Joh
Publicado en: EBioMedicine, Edición 48, 2019, Página(s) 203-211, ISSN 2352-3964
Editor: Elsevier BV
DOI: 10.1016/j.ebiom.2019.09.006

Omega-3 fatty acids supplementation protects the retina from age-associated degeneration in aged C57BL/6J mice

Autores: Ekatherine Prokopiou, Panagiotis Kolovos, Christos Georgiou, Maria Kalogerou, Louiza Potamiti, Kleitos Sokratous, Kyriacos Kyriacou, Tassos Georgiou
Publicado en: BMJ Open Ophthalmology, Edición 4/1, 2019, Página(s) e000326, ISSN 2397-3269
Editor: BMJ Publishing Group
DOI: 10.1136/bmjophth-2019-000326

A Deep Learning Framework for Predicting Response to Therapy in Cancer

Autores: Theodore Sakellaropoulos, Konstantinos Vougas, Sonali Narang, Filippos Koinis, Athanassios Kotsinas, Alexander Polyzos, Tyler J. Moss, Sarina Piha-Paul, Hua Zhou, Eleni Kardala, Eleni Damianidou, Leonidas G. Alexopoulos, Iannis Aifantis, Paul A. Townsend, Mihalis I. Panayiotidis, Petros Sfikakis, Jiri Bartek, Rebecca C. Fitzgerald, Dimitris Thanos, Kenna R. Mills Shaw, Russell Petty, Aristotelis T
Publicado en: Cell Reports, Edición 29/11, 2019, Página(s) 3367-3373.e4, ISSN 2211-1247
Editor: Cell Press
DOI: 10.1016/j.celrep.2019.11.017

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

Autores: Yael Laitman, Tara M. Friebel, Drakoulis Yannoukakos, Florentia Fostira, Irene Konstantopoulou, Gisella Figlioli, Bernardo Bonanni, Siranoush Manoukian, Monica Zuradelli, Carlo Tondini, Barbara Pasini, Paolo Peterlongo, Dijana Plaseska‐Karanfilska, Milena Jakimovska, Keivan Majidzadeh, Shiva Zarinfam, Maria A. Loizidou, Andreas Hadjisavvas, Kyriaki Michailidou, Kyriacos Kyriacou, Doron M. Behar,
Publicado en: Human Mutation, Edición 40/11, 2019, ISSN 1059-7794
Editor: John Wiley & Sons Inc.
DOI: 10.1002/humu.23842

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Autores: Gisella Figlioli, Massimo Bogliolo, Irene Catucci, Laura Caleca, Sandra Viz Lasheras, Roser Pujol, Johanna I. Kiiski, Taru A. Muranen, Daniel R. Barnes, Joe Dennis, Kyriaki Michailidou, Manjeet K. Bolla, Goska Leslie, Cora M. Aalfs, Muriel A. Adank, Julian Adlard, Simona Agata, Karen Cadoo, Bjarni A. Agnarsson, Thomas Ahearn, Kristiina Aittomäki, Christine B. Ambrosone, Lesley Andrews, Hoda Anton
Publicado en: npj Breast Cancer, Edición 5/1, 2019, ISSN 2374-4677
Editor: Springer Nature
DOI: 10.1038/s41523-019-0127-5

Genetic and Environmental Factors Contributing to Parkinson's Disease: A Case-Control Study in the Cypriot Population

Autores: Andrea Georgiou, Christiana A. Demetriou, Yiolanda P. Christou, Alexandros Heraclides, Eleni Leonidou, Panayiotis Loukaides, Elena Yiasoumi, Marios Pantziaris, Kleopas A. Kleopa, Savvas S. Papacostas, Maria A. Loizidou, Andreas Hadjisavvas, Eleni Zamba-Papanicolaou
Publicado en: Frontiers in Neurology, Edición 10, 2019, ISSN 1664-2295
Editor: Frontiers Research Foundation
DOI: 10.3389/fneur.2019.01047

Iridium( iii ) complexes of 1,2,4-triazines as potential bioorthogonal reagents: metal coordination facilitates luminogenic reaction with strained cyclooctynes

Autores: Valery N. Kozhevnikov, Michael E. Deary, Theodora Mantso, Mihalis I. Panayiotidis, Mark T. Sims
Publicado en: Chemical Communications, Edición 55/95, 2019, Página(s) 14283-14286, ISSN 1359-7345
Editor: Royal Society of Chemistry
DOI: 10.1039/c9cc06828g

Fluorine-18 fluorodeoxyglucose positron emission tomography-based textural features for prediction of event prone carotid atherosclerotic plaques

Autores: Pavlos P. Kafouris, Iosif P. Koutagiar, Alexandros T. Georgakopoulos, George M. Spyrou, Dimitrios Visvikis, Constantinos D. Anagnostopoulos
Publicado en: Journal of Nuclear Cardiology, 2019, ISSN 1071-3581
Editor: Mosby Inc.
DOI: 10.1007/s12350-019-01943-1

The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements

Autores: Petros Patsali, Claudio Mussolino, Petros Ladas, Argyro Floga, Annita Kolnagou, Soteroula Christou, Maria Sitarou, Michael N. Antoniou, Toni Cathomen, Carsten Werner Lederer, Marina Kleanthous
Publicado en: Journal of Clinical Medicine, Edición 8/11, 2019, Página(s) 1959, ISSN 2077-0383
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/jcm8111959

Genetic Modifiers at the Crossroads of Personalised Medicine for Haemoglobinopathies

Autores: Coralea Stephanou, Stella Tamana, Anna Minaidou, Panayiota Papasavva, Marina Kleanthous, Petros Kountouris
Publicado en: Journal of Clinical Medicine, Edición 8/11, 2019, Página(s) 1927, ISSN 2077-0383
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/jcm8111927

Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status

Autores: Helian Feng, Alexander Gusev, Bogdan Pasaniuc, Lang Wu, Jirong Long, Zomoroda Abu‐full, Kristiina Aittomäki, Irene L. Andrulis, Hoda Anton‐Culver, Antonis C. Antoniou, Adalgeir Arason, Volker Arndt, Kristan J. Aronson, Banu K. Arun, Ella Asseryanis, Paul L. Auer, Jacopo Azzollini, Judith Balmaña, Rosa B. Barkardottir, Daniel R. Barnes, Daniel Barrowdale, Matthias W. Beckmann, Sabine Behrens,
Publicado en: Genetic Epidemiology, 2020, ISSN 0741-0395
Editor: John Wiley & Sons Inc.
DOI: 10.1002/gepi.22288

Risk factors for breast cancer brain metastases: a systematic review

Autores: Lola Koniali, Andreas Hadjisavvas, Anastasia Constantinidou, Kyproula Christodoulou, Yiolanda Christou, Christiana Demetriou, Andreas S. Panayides, Constantinos Pitris, Constantinos S. Pattichis, Eleni Zamba-Papanicolaou, Kyriacos Kyriacou
Publicado en: Oncotarget, Edición 11/6, 2020, ISSN 1949-2553
Editor: Impact Journals
DOI: 10.18632/oncotarget.27453

Aldehyde dehydrogenase 3A1 confers oxidative stress resistance accompanied by altered DNA damage response in human corneal epithelial cells

Autores: Georgia-Persephoni Voulgaridou, Ilias Tsochantaridis, Christos Tolkas, Rodrigo Franco, Alexandra Giatromanolaki, Mihalis I. Panayiotidis, Aglaia Pappa
Publicado en: Free Radical Biology and Medicine, Edición 150, 2020, Página(s) 66-74, ISSN 0891-5849
Editor: Elsevier BV
DOI: 10.1016/j.freeradbiomed.2020.01.183

The Effects of a 6-Month High Dose Omega-3 and Omega-6 Polyunsaturated Fatty Acids and Antioxidant Vitamins Supplementation on Cognitive Function and Functional Capacity in Older Adults with Mild Cognitive Impairment

Autores: Pinelopi S. Stavrinou, Eleni Andreou, George Aphamis, Marios Pantzaris, Melina Ioannou, Ioannis S. Patrikios, Christoforos D. Giannaki
Publicado en: Nutrients, Edición 12/2, 2020, Página(s) 325, ISSN 2072-6643
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/nu12020325

Functional brain networks of patients with epilepsy exhibit pronounced multiscale periodicities, which correlate with seizure onset

Autores: Georgios D. Mitsis, Maria N. Anastasiadou, Manolis Christodoulakis, Eleftherios S. Papathanasiou, Savvas S. Papacostas, Avgis Hadjipapas
Publicado en: Human Brain Mapping, Edición 41/8, 2020, Página(s) 2059-2076, ISSN 1065-9471
Editor: John Wiley & Sons Inc.
DOI: 10.1002/hbm.24930

Proteomic Studies for the Investigation of γ-Globin Induction by Decitabine in Human Primary Erythroid Progenitor Cultures

Autores: Andria Theodorou, Marios Phylactides, Eleni Katsantoni, Kostas Vougas, Spyros D. Garbis, Pavlos Fanis, Maria Sitarou, Swee Lay Thein, Marina Kleanthous
Publicado en: Journal of Clinical Medicine, Edición 9/1, 2020, Página(s) 134, ISSN 2077-0383
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/jcm9010134

A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease

Autores: Anna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, Theodoros Georgiou, Lluisa Vilageliu, Marina Moraitou, Helen Michelakakis, Chrystalla Prokopiou, Anthi Drousiotou
Publicado en: Molecular Genetics & Genomic Medicine, Edición 8/3, 2020, ISSN 2324-9269
Editor: Wiley
DOI: 10.1002/mgg3.1090

European lipodystrophy registry: background and structure

Autores: Julia von Schnurbein, Claire Adams, Baris Akinci, Giovanni Ceccarini, Maria Rosaria D’Apice, Alessandra Gambineri, Raoul C. M. Hennekam, Isabelle Jeru, Giovanna Lattanzi, Konstanze Miehle, Gabriele Nagel, Giuseppe Novelli, Ferruccio Santini, Ermelinda Santos Silva, David B. Savage, Paolo Sbraccia, Jannik Schaaf, Ekaterina Sorkina, George Tanteles, Marie-Christine Vantyghem, Camille Vatier, Corin
Publicado en: Orphanet Journal of Rare Diseases, Edición 15/1, 2020, ISSN 1750-1172
Editor: BioMed Central
DOI: 10.1186/s13023-020-1295-y

Survival Mechanisms and Xenobiotic Susceptibility of Keratinocytes Exposed to Metal-Derived Nanoparticles

Autores: Veronica Montesinos-Cruz, Jordan Rose, Aglaia Pappa, Mihalis I. Panayiotidis, Andrea De Vizcaya-Ruiz, Rodrigo Franco
Publicado en: Chemical Research in Toxicology, Edición 33/2, 2019, Página(s) 536-552, ISSN 0893-228X
Editor: American Chemical Society
DOI: 10.1021/acs.chemrestox.9b00398

ChemBioServer 2.0: an advanced web server for filtering, clustering and networking of chemical compounds facilitating both drug discovery and repurposing

Autores: Evangelos Karatzas, Juan Eiros Zamora, Emmanouil Athanasiadis, Dimitris Dellis, Zoe Cournia, George M Spyrou
Publicado en: Bioinformatics, Edición 36/8, 2020, Página(s) 2602-2604, ISSN 1367-4803
Editor: Oxford University Press
DOI: 10.1093/bioinformatics/btz976

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Autores: Laura Fachal, Hugues Aschard, Jonathan Beesley, Daniel R. Barnes, Jamie Allen, Siddhartha Kar, Karen A. Pooley, Joe Dennis, Kyriaki Michailidou, Constance Turman, Penny Soucy, Audrey Lemaçon, Michael Lush, Jonathan P. Tyrer, Maya Ghoussaini, Mahdi Moradi Marjaneh, Xia Jiang, Simona Agata, Kristiina Aittomäki, M. Rosario Alonso, Irene L. Andrulis, Hoda Anton-Culver, Natalia N. Antonenkova, Adalge
Publicado en: Nature Genetics, Edición 52/1, 2020, Página(s) 56-73, ISSN 1061-4036
Editor: Nature Publishing Group
DOI: 10.1038/s41588-019-0537-1

Chromatin interactome mapping at 139 independent breast cancer risk signals

Autores: Jonathan Beesley, Haran Sivakumaran, Mahdi Moradi Marjaneh, Luize G. Lima, Kristine M. Hillman, Susanne Kaufmann, Natasha Tuano, Nehal Hussein, Sunyoung Ham, Pamela Mukhopadhyay, Stephen Kazakoff, Jason S. Lee, Kyriaki Michailidou, Daniel R. Barnes, Antonis C. Antoniou, Laura Fachal, Alison M. Dunning, Douglas F. Easton, Nicola Waddell, Joseph Rosenbluh, Andreas Möller, Georgia Chenevix-Trench, J
Publicado en: Genome Biology, Edición 21/1, 2020, ISSN 1474-760X
Editor: BioMed Central
DOI: 10.1186/s13059-019-1877-y

The frequency of central nervous system complications in the Cypriot cohort of ATTRV30M neuropathy transplanted patients

Autores: Efthimios Dardiotis, Savanna Andreou, Athina-Maria Aloizou, Elena Panayiotou, Vasileios Siokas, Mihaela Nedea Ioannou, Emmelia Vounou, Kyproula Christodoulou, George A. Tanteles, Demos Michaelides, Theodoros Kyriakides
Publicado en: Neurological Sciences, Edición 41/5, 2020, Página(s) 1163-1170, ISSN 1590-1874
Editor: Springer Verlag
DOI: 10.1007/s10072-019-04176-9

Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content

Autores: Kalia Kyriakou, Carsten W. Lederer, Marina Kleanthous, Anthi Drousiotou, Anna Malekkou
Publicado en: International Journal of Molecular Sciences, Edición 21/5, 2020, Página(s) 1607, ISSN 1422-0067
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms21051607

MicroRNAs as possible biomarkers for screening of aortic aneurysms: a systematic review and validation study

Autores: Areti Moushi, Kyriaki Michailidou, Marinos Soteriou, Marios Cariolou, Evy Bashiardes
Publicado en: Biomarkers, Edición 23/3, 2017, Página(s) 253-264, ISSN 1354-750X
Editor: Taylor & Francis
DOI: 10.1080/1354750x.2018.1423704

Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study

Autores: Rena Papachristoforou, Petros P. Petrou, Hilary Sawyer, Maggie Williams, Anthi Drousiotou
Publicado en: Annals of Human Genetics, Edición 83/5, 2019, Página(s) 291-298, ISSN 0003-4800
Editor: Blackwell Publishing Inc.
DOI: 10.1111/ahg.12318

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

Autores: Theodoros Georgiou, Gavriella Mavrikiou, Angelos Alexandrou, Elena Spanou-Aristidou, Isavella Savva, Theodoros Christodoulides, Maria Krasia, Violetta Christophidou-Anastasiadou, Carolina Sismani, Anthi Drousiotou, George A. Tanteles
Publicado en: Case Reports in Genetics, Edición 2016, 2016, Página(s) 1-6, ISSN 2090-6544
Editor: Hindawi
DOI: 10.1155/2016/5208312

Complete Genome Sequence of West Nile Virus (WNV) from the First Human Case of Neuroinvasive WNV Infection in Cyprus

Autores: Jan Richter, Christina Tryfonos, Aristomenis Tourvas, Dora Floridou, Niki I. Paphitou, Christina Christodoulou
Publicado en: Genome Announcements, Edición 5/43, 2017, ISSN 2169-8287
Editor: American Society for Microbiology
DOI: 10.1128/genomea.01110-17

Sediment microbial taxonomic and functional diversity in a natural salinity gradient challenge Remane’s “species minimum” concept

Autores: Christina Pavloudi, Jon B. Kristoffersen, Anastasis Oulas, Marleen De Troch, Christos Arvanitidis
Publicado en: PeerJ, Edición 5, 2017, Página(s) e3687, ISSN 2167-8359
Editor: PeerJ
DOI: 10.7717/peerj.3687

Special Issue—Towards Understanding the Mechanisms and Curing of Muscular Dystrophy Diseases

Autores: Leonidas Phylactou
Publicado en: Molecules, Edición 20/7, 2015, Página(s) 12944-12945, ISSN 1420-3049
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/molecules200712944

An Evolutionarily Young Polar Bear (Ursus maritimus) Endogenous Retrovirus Identified from Next Generation Sequence Data

Autores: Kyriakos Tsangaras, Jens Mayer, David Alquezar-Planas, Alex Greenwood
Publicado en: Viruses, Edición 7/11, 2015, Página(s) 6089-6107, ISSN 1999-4915
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/v7112927

The synergistic effect between the Mediterranean diet and GSTP1 or NAT2 SNPs decreases breast cancer risk in Greek-Cypriot women

Autores: Maria G. Kakkoura, Maria A. Loizidou, Christiana A. Demetriou, Giorgos Loucaides, Maria Daniel, Kyriacos Kyriacou, Andreas Hadjisavvas
Publicado en: European Journal of Nutrition, Edición 56/2, 2017, Página(s) 545-555, ISSN 1436-6207
Editor: Dr. Dietrich Steinkopff Verlag
DOI: 10.1007/s00394-015-1099-3

Cortical Lewy bodies and Aβ burden are associated with prevalence and timing of dementia in Lewy body diseases

Autores: C. Ruffmann, F. C. F. Calboli, I. Bravi, D. Gveric, L. K. Curry, A. de Smith, S. Pavlou, J. L. Buxton, A. I. F. Blakemore, P. Takousis, S. Molloy, P. Piccini, D. T. Dexter, F. Roncaroli, S. M. Gentleman, L. T. Middleton
Publicado en: Neuropathology and Applied Neurobiology, Edición 42/5, 2016, Página(s) 436-450, ISSN 0305-1846
Editor: Blackwell Publishing Inc.
DOI: 10.1111/nan.12294

Patients with a High Polygenic Risk of Breast Cancer do not have An Increased Risk of Radiotherapy Toxicity

Autores: Leila Dorling, Gillian C. Barnett, Kyriaki Michailidou, Charlotte E. Coles, Neil G. Burnet, John Yarnold, Rebecca M. Elliott, Alison M. Dunning, Paul D.P. Pharoah, Catharine M. West
Publicado en: Clinical Cancer Research, Edición 22/6, 2016, Página(s) 1413-1420, ISSN 1078-0432
Editor: American Association for Cancer Research
DOI: 10.1158/1078-0432.ccr-15-1080

Evolution of GLUD2 Glutamate Dehydrogenase Allows Expression in Human Cortical Neurons

Autores: Cleanthe Spanaki, Dimitra Kotzamani, Kleopas Kleopa, Andreas Plaitakis
Publicado en: Molecular Neurobiology, Edición 53/8, 2016, Página(s) 5140-5148, ISSN 0893-7648
Editor: Humana Press, Inc.
DOI: 10.1007/s12035-015-9429-2

A rare cause of pruritic ichthyosis: Sjögren-Larsson syndrome in the first reported patients of Cypriot descent

Autores: George A. Tanteles, Michael Nicolaou, Nasia Patsia, Turem Delikurt-Tuncalp, Elena Spanou-Aristidou, Eleni Leonidou, Theodoros Kyriakides, Violetta Christophidou-Anastasiadou
Publicado en: European Journal of Dermatology, Edición 25/5, 2015, Página(s) 495-496, ISSN 1167-1122
Editor: John Libbey Eurotext
DOI: 10.1684/ejd.2015.2615

In vivo monitoring of the inflammatory response in a stented mouse aorta model

Autores: Konstantinos K. Kapnisis, Costas M. Pitsillides, Marianna S. Prokopi, George Lapathitis, Christos Karaiskos, Polyvios C. Eleftheriou, Brigitta C. Brott, Peter G. Anderson, Jack E. Lemons, Andreas S. Anayiotos
Publicado en: Journal of Biomedical Materials Research Part A, Edición 104/1, 2016, Página(s) 227-238, ISSN 1549-3296
Editor: John Wiley & Sons Inc.
DOI: 10.1002/jbm.a.35560

Identification of an AVP-NPII mutation within the AVP moiety in a family with neurohypophyseal diabetes insipidus: review of the literature

Autores: Costas Koufaris, Angelos Alexandrou, Carolina Sismani, Nicos Skordis
Publicado en: HORMONES, 2015, ISSN 1109-3099
Editor: Hellenic Endocrine Society
DOI: 10.14310/horm.2002.1604

A novel family of katanin-like 2 protein isoforms (KATNAL2), interacting with nucleotide-binding proteins Nubp1 and Nubp2, are key regulators of different MT-based processes in mammalian cells

Autores: Antonis Ververis, Andri Christodoulou, Maria Christoforou, Christina Kamilari, Carsten W. Lederer, Niovi Santama
Publicado en: Cellular and Molecular Life Sciences, Edición 73/1, 2016, Página(s) 163-184, ISSN 1420-682X
Editor: Birkhauser Verlag
DOI: 10.1007/s00018-015-1980-5

Towards a European consensus for reporting incidental findings during clinical NGS testing

Autores: Jayne Y Hehir-Kwa, Mireille Claustres, Ros J Hastings, Conny van Ravenswaaij-Arts, Gabrielle Christenhusz, Maurizio Genuardi, Béla Melegh, Anne Cambon-Thomsen, Philippos Patsalis, Joris Vermeesch, Martina C Cornel, Beverly Searle, Aarno Palotie, Ettore Capoluongo, Borut Peterlin, Xavier Estivill, Peter N Robinson
Publicado en: European Journal of Human Genetics, Edición 23/12, 2015, Página(s) 1601-1606, ISSN 1018-4813
Editor: Natue Publishing Group
DOI: 10.1038/ejhg.2015.111

The evidence is finally here: Ocular vestibular evoked myogenic potentials are mainly dependent on utricular pathway function

Autores: Eleftherios S. Papathanasiou
Publicado en: Clinical Neurophysiology, Edición 126/10, 2015, Página(s) 1843-1844, ISSN 1388-2457
Editor: Elsevier BV
DOI: 10.1016/j.clinph.2015.01.007

Genetic background modifies amyloidosis in a mouse model of ATTR neuropathy

Autores: E. Panayiotou, R. Papacharalambous, A. Antoniou, G. Christophides, L. Papageorgiou, E. Fella, S. Malas, T. Kyriakides
Publicado en: Biochemistry and Biophysics Reports, Edición 8, 2016, Página(s) 48-54, ISSN 2405-5808
Editor: Elsevier
DOI: 10.1016/j.bbrep.2016.08.005

Vsx1 Transiently Defines an Early Intermediate V2 Interneuron Precursor Compartment in the Mouse Developing Spinal Cord

Autores: Cédric Francius, María Hidalgo-Figueroa, Stéphanie Debrulle, Barbara Pelosi, Vincent Rucchin, Kara Ronellenfitch, Elena Panayiotou, Neoklis Makrides, Kamana Misra, Audrey Harris, Hessameh Hassani, Olivier Schakman, Carlos Parras, Mengqing Xiang, Stavros Malas, Robert L. Chow, Frédéric Clotman
Publicado en: Frontiers in Molecular Neuroscience, Edición 9, 2016, ISSN 1662-5099
Editor: Frontiers Research Foundation
DOI: 10.3389/fnmol.2016.00145

Seqenv : linking sequences to environments through text mining

Autores: Lucas Sinclair, Umer Z. Ijaz, Lars Juhl Jensen, Marco J.L. Coolen, Cecile Gubry-Rangin, Alica Chroňáková, Anastasis Oulas, Christina Pavloudi, Julia Schnetzer, Aaron Weimann, Ali Ijaz, Alexander Eiler, Christopher Quince, Evangelos Pafilis
Publicado en: PeerJ, Edición 4, 2016, Página(s) e2690, ISSN 2167-8359
Editor: PeerJ
DOI: 10.7717/peerj.2690

Ocular vestibular evoked myogenic potentials and the importance of the bifid response

Autores: Eleftherios S. Papathanasiou
Publicado en: Clinical Neurophysiology, Edición 128/1, 2017, Página(s) 260-261, ISSN 1388-2457
Editor: Elsevier BV
DOI: 10.1016/j.clinph.2016.11.011

Quality of Life of Cypriot Patients Suffering with Huntington’s Disease

Autores: Eleni Varda, Christiana A. Demetriou, Alexandros Heraclides, Yiolanda P. Christou, Eleni Zamba-Papanicolaou
Publicado en: PLoS Currents, 2016, ISSN 2157-3999
Editor: Public Library of Science
DOI: 10.1371/currents.hd.270776c4fdd7776499dd45bf47049a75

PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study

Autores: Amand F Schmidt, Daniel I Swerdlow, Michael V Holmes, Riyaz S Patel, Zammy Fairhurst-Hunter, Donald M Lyall, Fernando Pires Hartwig, Bernardo Lessa Horta, Elina Hyppönen, Christine Power, Max Moldovan, Erik van Iperen, G Kees Hovingh, Ilja Demuth, Kristina Norman, Elisabeth Steinhagen-Thiessen, Juri Demuth, Lars Bertram, Tian Liu, Stefan Coassin, Johann Willeit, Stefan Kiechl, Karin Willeit, Dan
Publicado en: The Lancet Diabetes & Endocrinology, Edición 5/2, 2017, Página(s) 97-105, ISSN 2213-8587
Editor: Elsevier BV
DOI: 10.1016/s2213-8587(16)30396-5

Biomarkers of systemic lupus erythematosus identified using mass spectrometry-based proteomics: a systematic review

Autores: Orthodoxia Nicolaou, Andreas Kousios, Andreas Hadjisavvas, Bernard Lauwerys, Kleitos Sokratous, Kyriacos Kyriacou
Publicado en: Journal of Cellular and Molecular Medicine, Edición 21/5, 2017, Página(s) 993-1012, ISSN 1582-1838
Editor: Wiley-Blackwell
DOI: 10.1111/jcmm.13031

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

Autores: Emma L. Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, Susan M. O'Connell, Jennifer Salem, Jet Bliek, Ana P. M. Canton, Krystyna H. Chrzanowska, Justin H. Davies, Renuka P. Dias, Béatrice Dubern, Miriam Elbracht, Eloise Giabicani, Adda Grimberg, Karen Grønskov, Anita C. S. Hokken-Koelega, Alexander A. Jorge, Masayo Kagami, Agnes Linglart, Mohamad Maghnie, Klaus Mohnike, David Monk, Gudru
Publicado en: Nature Reviews Endocrinology, Edición 13/2, 2017, Página(s) 105-124, ISSN 1759-5029
Editor: Nature Publishing Group
DOI: 10.1038/nrendo.2016.138

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Autores: Miguel de la Hoya, Omar Soukarieh, Irene López-Perolio, Ana Vega, Logan C. Walker, Yvette van Ierland, Diana Baralle, Marta Santamariña, Vanessa Lattimore, Juul Wijnen, Philip Whiley, Ana Blanco, Michela Raponi, Jan Hauke, Barbara Wappenschmidt, Alexandra Becker, Thomas V. O. Hansen, Raquel Behar, KConFaB Investigators, Diether Niederacher, Norbert Arnold, Bernd Dworniczak, Doris Steinemann, Ulr
Publicado en: Human Molecular Genetics, Edición 25/11, 2016, Página(s) 2256-2268, ISSN 0964-6906
Editor: Oxford University Press
DOI: 10.1093/hmg/ddw094

Assessing the potential of pharmaceuticals and their transformation products to cause mutagenic effects: Implications for gene expression profiling

Autores: Marlen I. Vasquez, Maria Tarapoulouzi, Nancy Lambrianides, Evroula Hapeshi, Kyriakos Felekkis, Maria Saile, Carsten Sticht, Norbert Gretz, Despo Fatta-Kassinos
Publicado en: Environmental Toxicology and Chemistry, Edición 35/11, 2016, Página(s) 2753-2764, ISSN 0730-7268
Editor: Society of Environmental Toxicology and Chemistry
DOI: 10.1002/etc.3444

Detection of a Yersinia pestis gene homologue in rodent samples

Autores: Timothy A. Giles, Alex D. Greenwood, Kyriakos Tsangaras, Tom C. Giles, Paul A. Barrow, Duncan Hannant, Abu-Bakr Abu-Median, Lisa Yon
Publicado en: PeerJ, Edición 4, 2016, Página(s) e2216, ISSN 2167-8359
Editor: PeerJ
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Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)

Autores: Hatef Darabi, Jonathan Beesley, Arnaud Droit, Siddhartha Kar, Silje Nord, Mahdi Moradi Marjaneh, Penny Soucy, Kyriaki Michailidou, Maya Ghoussaini, Hanna Fues Wahl, Manjeet K. Bolla, Qin Wang, Joe Dennis, M. Rosario Alonso, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W. Beckmann, Javier Benitez, Natalia V. Bogdanova, Stig E. Bojesen, Hiltrud Brauch, Hermann Brenner, Annegien Broek
Publicado en: Scientific Reports, Edición 6/1, 2016, ISSN 2045-2322
Editor: Nature Publishing Group
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Phylogeography of the Koala, (Phascolarctos cinereus), and Harmonising Data to Inform Conservation

Autores: Linda E. Neaves, Greta J. Frankham, Siobhan Dennison, Sean FitzGibbon, Cheyne Flannagan, Amber Gillett, Emily Hynes, Kathrine Handasyde, Kristofer M. Helgen, Kyriakos Tsangaras, Alex D. Greenwood, Mark D. B. Eldridge, Rebecca N. Johnson
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Editor: Public Library of Science
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Direct conversion of mouse embryonic fibroblasts into functional keratinocytes through transient expression of pluripotency-related genes

Autores: Demetris Iacovides, Gizem Rizki, Georgios Lapathitis, Katerina Strati
Publicado en: Stem Cell Research & Therapy, Edición 7/1, 2016, ISSN 1757-6512
Editor: BioMed Central
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Idiopathic focal epilepsies: the “lost tribe”

Autores: Deb K. Pal, Colin Ferrie, Laura Addis, Tomoyuki Akiyama, Giuseppe Capovilla, Roberto Caraballo, Anne de Saint-Martin, Natalio Fejerman, Renzo Guerrini, Khalid Hamandi, Ingo Helbig, Andreas A. Ioannides, Katsuhiro Kobayashi, Dennis Lal, Gaetan Lesca, Hiltrud Muhle, Bernd A. Neubauer, Tiziana Pisano, Gabrielle Rudolf, Caroline Seegmuller, Takashi Shibata, Anna Smith, Pasquale Striano, Lisa J. Strug,
Publicado en: Epileptic Disorders, Edición 18/3, 2016, Página(s) 252-288, ISSN 1294-9361
Editor: John Libbey Eurotext
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Mendelian randomization study of adiposity-related traits and risk of breast, ovarian, prostate, lung and colorectal cancer

Autores: Chi Gao, Chirag J Patel, Kyriaki Michailidou, Ulrike Peters, Jian Gong, Joellen Schildkraut, Fredrick R Schumacher, Wei Zheng, Paolo Boffetta, Isabelle Stucker, Walter Willett, Stephen Gruber, Douglas F Easton, David J Hunter, Thomas A Sellers, Christopher Haiman, Brian E Henderson, Rayjean J Hung, Christopher Amos, Brandon L Pierce, Sara Lindström, Peter Kraft
Publicado en: International Journal of Epidemiology, Edición 45/3, 2016, Página(s) 896-908, ISSN 0300-5771
Editor: Oxford University Press
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The Relationship between Common Genetic Markers of Breast Cancer Risk and Chemotherapy-Induced Toxicity: A Case-Control Study

Autores: Leila Dorling, Siddhartha Kar, Kyriaki Michailidou, Louise Hiller, Anne-Laure Vallier, Susan Ingle, Richard Hardy, Sarah J. Bowden, Janet A. Dunn, Chris Twelves, Christopher J. Poole, Carlos Caldas, Helena M. Earl, Paul D. P. Pharoah, Jean E. Abraham
Publicado en: PLOS ONE, Edición 11/7, 2016, Página(s) e0158984, ISSN 1932-6203
Editor: Public Library of Science
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The association between IgG and IgM antibodies against cardiolipin, β2-glycoprotein I and Domain I of β2-glycoprotein I with disease profile in patients with multiple sclerosis

Autores: Natalia Filippidou, George Krashias, Charis Pericleous, Anisur Rahman, Yiannis Ioannou, Ian Giles, Christiana Demetriou, Afroditi Anatolitou, Christina Christodoulou, Marios Pantzaris, Anastasia Lambrianides
Publicado en: Molecular Immunology, Edición 75, 2016, Página(s) 161-167, ISSN 0161-5890
Editor: Pergamon Press
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Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene

Autores: Gavriella Mavrikiou, Petros Petrou, Theodoros Georgiou, Anthi Drousiotou
Publicado en: Clinical Biochemistry, Edición 49/12, 2016, Página(s) 885-889, ISSN 0009-9120
Editor: Elsevier BV
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Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex

Autores: George Koumbaris, Elena Kypri, Kyriakos Tsangaras, Achilleas Achilleos, Petros Mina, Maria Neofytou, Voula Velissariou, Georgia Christopoulou, Ioannis Kallikas, Alicia González-Liñán, Egle Benusiene, Anna Latos-Bielenska, Pietryga Marek, Alfredo Santana, Nikoletta Nagy, Márta Széll, Piotr Laudanski, Elisavet A Papageorgiou, Marios Ioannides, Philippos C Patsalis
Publicado en: Clinical Chemistry, Edición 62/6, 2016, Página(s) 848-855, ISSN 0009-9147
Editor: American Association for Clinical Chemistry, Inc.
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Vestibular evoked myogenic potentials (VEMPs) for examining vestibular function and dysfunction

Autores: Eleftherios S. Papathanasiou
Publicado en: Clinical Neurophysiology, Edición 127/5, 2016, Página(s) 2237-2239, ISSN 1388-2457
Editor: Elsevier BV
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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Autores: Daniel J Klionsky, Kotb Abdelmohsen, Akihisa Abe, Md Joynal Abedin, Hagai Abeliovich, Abraham Acevedo Arozena, Hiroaki Adachi, Christopher M Adams, Peter D Adams, Khosrow Adeli, Peter J Adhihetty, Sharon G Adler, Galila Agam, Rajesh Agarwal, Manish K Aghi, Maria Agnello, Patrizia Agostinis, Patricia V Aguilar, Julio Aguirre-Ghiso, Edoardo M Airoldi, Slimane Ait-Si-Ali, Takahiko Akematsu, Emmanuel
Publicado en: Autophagy, Edición 12/1, 2016, Página(s) 1-222, ISSN 1554-8627
Editor: Landes Bioscience
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Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis

Autores: Laura Obici, Jan B. Kuks, Juan Buades, David Adams, Ole B. Suhr, Teresa Coelho, Theodore Kyriakides
Publicado en: Current Opinion in Neurology, Edición 29, 2016, Página(s) S27-S35, ISSN 1350-7540
Editor: Lippincott Williams & Wilkins Ltd.
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Lessons learned — resolving the enigma of genetic factors in IBS

Autores: Maria Gazouli, Mira M. Wouters, Lejla Kapur-Pojskić, May-Bente Bengtson, Eitan Friedman, Gordana Nikčević, Christiana A. Demetriou, Agata Mulak, Javier Santos, Beate Niesler
Publicado en: Nature Reviews Gastroenterology & Hepatology, Edición 13/2, 2016, Página(s) 77-87, ISSN 1759-5045
Editor: Nature Publishing Group
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Measurement of lentiviral vector titre and copy number by cross-species duplex quantitative PCR

Autores: I Christodoulou, P Patsali, C Stephanou, M Antoniou, M Kleanthous, C W Lederer
Publicado en: Gene Therapy, Edición 23/1, 2016, Página(s) 113-118, ISSN 0969-7128
Editor: Nature Publishing Group
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Therapeutic potential of omega-3 fatty acids supplementation in a mouse model of dry macular degeneration

Autores: Ekatherine Prokopiou, Panagiotis Kolovos, Maria Kalogerou, Anastasia Neokleous, Gregory Papagregoriou, Constantinos Deltas, Stavros Malas, Tassos Georgiou
Publicado en: BMJ Open Ophthalmology, Edición 1/1, 2017, Página(s) e000056, ISSN 2397-3269
Editor: BMJ publishing group
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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Autores: Valérie Turcot, Yingchang Lu, Heather M. Highland, Claudia Schurmann, Anne E. Justice, Rebecca S. Fine, Jonathan P. Bradfield, Tõnu Esko, Ayush Giri, Mariaelisa Graff, Xiuqing Guo, Audrey E. Hendricks, Tugce Karaderi, Adelheid Lempradl, Adam E. Locke, Anubha Mahajan, Eirini Marouli, Suthesh Sivapalaratnam, Kristin L. Young, Tamuno Alfred, Mary F. Feitosa, Nicholas G. D. Masca, Alisa K. Manning,
Publicado en: Nature Genetics, Edición 50/1, 2018, Página(s) 26-41, ISSN 1061-4036
Editor: Nature Publishing Group
DOI: 10.1038/s41588-017-0011-x

PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1

Autores: Xiang Jiao, Christos Aravidis, Rajeshwari Marikkannu, Johanna Rantala, Simone Picelli, Tatjana Adamovic, Tao Liu, Paula Maguire, Barbara Kremeyer, Liping Luo, Susanna von Holst, Vinaykumar Kontham, Jessada Thutkawkorapin, Sara Margolin, Quan Du, Johanna Lundin, Kyriaki Michailidou, Manjeet K. Bolla, Qin Wang, Joe Dennis, Michael Lush, Christine B. Ambrosone, Irene L. Andrulis, Hoda Anton-Culver, N
Publicado en: Oncotarget, Edición 8/61, 2017, Página(s) 102769-102782, ISSN 1949-2553
Editor: Impact Journals
DOI: 10.18632/oncotarget.21800

Omega-3 fatty acids protect retinal neurons in the DBA/2J hereditary glaucoma mouse model

Autores: Maria Kalogerou, Panagiotis Kolovos, Ekatherine Prokopiou, Gregory Papagregoriou, Constantinos Deltas, Stavros Malas, Tassos Georgiou
Publicado en: Experimental Eye Research, Edición 167, 2018, Página(s) 128-139, ISSN 0014-4835
Editor: Academic Press
DOI: 10.1016/j.exer.2017.12.005

Long-read genome sequence assembly provides insight into ongoing retroviral invasion of the koala germline

Autores: Matthew Hobbs, Andrew King, Ryan Salinas, Zhiliang Chen, Kyriakos Tsangaras, Alex D. Greenwood, Rebecca N. Johnson, Katherine Belov, Marc R. Wilkins, Peter Timms
Publicado en: Scientific Reports, Edición 7/1, 2017, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/s41598-017-16171-1

Corrigendum to “European contribution to the study of ROS: A summary of the findings and prospects for the future from the COST action BM1203 (EU-ROS)” [Redox Biol. 13 (2017) 94–162]

Autores: J. Egea, I. Fabregat, Y.M. Frapart, P. Ghezzi, A. Görlach, T. Kietzmann, K. Kubaichuk, U.G. Knaus, M.G. Lopez, G. Olaso-Gonzalez, A. Petry, R. Schulz, J. Vina, P. Winyard, K. Abbas, O.S. Ademowo, C.B. Afonso, I. Andreadou, H. Antelmann, F. Antunes, M. Aslan, M.M. Bachschmid, R.M. Barbosa, V. Belousov, C. Berndt, D. Bernlohr, E. Bertrán, A. Bindoli, S.P. Bottari, P.M. Brito, G. Carrara, A.I. Casa
Publicado en: Redox Biology, Edición 14, 2018, Página(s) 694-696, ISSN 2213-2317
Editor: Elsevier BV
DOI: 10.1016/j.redox.2017.10.001

Smartphone Applications for Educating and Helping Non-motivating Patients Adhere to Medication That Treats Mental Health Conditions: Aims and Functioning

Autores: Angelos P. Kassianos, Giorgos Georgiou, Electra P. Papaconstantinou, Angeliki Detzortzi, Rob Horne
Publicado en: Frontiers in Psychology, Edición 8, 2017, ISSN 1664-1078
Editor: Frontiers Research Foundation
DOI: 10.3389/fpsyg.2017.01769

Association analysis identifies 65 new breast cancer risk loci

Autores: Kyriaki Michailidou, Sara Lindström, Joe Dennis, Jonathan Beesley, Shirley Hui, Siddhartha Kar, Audrey Lemaçon, Penny Soucy, Dylan Glubb, Asha Rostamianfar, Manjeet K. Bolla, Qin Wang, Jonathan Tyrer, Ed Dicks, Andrew Lee, Zhaoming Wang, Jamie Allen, Renske Keeman, Ursula Eilber, Juliet D. French, Xiao Qing Chen, Laura Fachal, Karen McCue, Amy E. McCart Reed, Maya Ghoussaini, Jason S. Carroll, X
Publicado en: Nature, Edición 551/7678, 2017, Página(s) 92-94, ISSN 0028-0836
Editor: Nature Publishing Group
DOI: 10.1038/nature24284

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Autores: Roger L Milne, Karoline B Kuchenbaecker, Kyriaki Michailidou, Jonathan Beesley, Siddhartha Kar, Sara Lindström, Shirley Hui, Audrey Lemaçon, Penny Soucy, Joe Dennis, Xia Jiang, Asha Rostamianfar, Hilary Finucane, Manjeet K Bolla, Lesley McGuffog, Qin Wang, Cora M Aalfs, Marcia Adams, Julian Adlard, Simona Agata, Shahana Ahmed, Habibul Ahsan, Kristiina Aittomäki, Fares Al-Ejeh, Jamie Allen, Chri
Publicado en: Nature Genetics, Edición 49/12, 2017, Página(s) 1767-1778, ISSN 1061-4036
Editor: Nature Publishing Group
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The effect of l -Arginine on Ciliary Beat Frequency in PCD patients, non-PCD respiratory patients and healthy controls

Autores: Panayiotis Kouis, Andreas Hadjisavvas, Nicos Middleton, Stefania I. Papatheodorou, Kyriacos Kyriacou, Panayiotis K. Yiallouros
Publicado en: Pulmonary Pharmacology & Therapeutics, Edición 48, 2018, Página(s) 15-21, ISSN 1094-5539
Editor: Academic Press
DOI: 10.1016/j.pupt.2017.10.010

Texture Feature Variability in Ultrasound Video of the Atherosclerotic Carotid Plaque

Autores: Christos P. Loizou, Constantinos S. Pattichis, Marios Pantziaris, Efthyvoulos Kyriacou, Andrew Nicolaides
Publicado en: IEEE Journal of Translational Engineering in Health and Medicine, Edición 5, 2017, Página(s) 1-9, ISSN 2168-2372
Editor: Institute of Electrical and Electronics Engineers Inc.
DOI: 10.1109/jtehm.2017.2728662

The care of adolescents and young adults with cancer: results of the ESMO/SIOPE survey

Autores: Emmanouil Saloustros, Daniel P Stark, Kyriaki Michailidou, Giannis Mountzios, Laurence Brugieres, Fedro Alessandro Peccatori, Svetlana Jezdic, Samira Essiaf, Jean-Yves Douillard, Stefan Bielack
Publicado en: ESMO Open, Edición 2/4, 2017, Página(s) e000252, ISSN 2059-7029
Editor: BMJ Publishing Group
DOI: 10.1136/esmoopen-2017-000252

Restless legs syndrome in adolescents: relationship with sleep quality, cardiorespiratory fitness and body fat

Autores: Christoforos D. Giannaki, Georgios M. Hadjigeorgiou, George Aphamis, Marios Pantzaris, Giorgos K. Sakkas
Publicado en: Sleep Science, Edición 10/1, 2017, ISSN 1984-0063
Editor: Elsevier
DOI: 10.5935/1984-0063.20170002

Exome array analysis identifies GPR35 as a novel susceptibility gene for anthracycline-induced cardiotoxicity in childhood cancer

Autores: Sara Ruiz-Pinto, Guillermo Pita, Ana Patiño-García, Javier Alonso, Antonio Pérez-Martínez, Antonio J. Cartón, Federico Gutiérrez-Larraya, María R. Alonso, Daniel R. Barnes, Joe Dennis, Kyriaki Michailidou, Carmen Gómez-Santos, Deborah J. Thompson, Douglas F. Easton, Javier Benítez, Anna González-Neira
Publicado en: Pharmacogenetics and Genomics, Edición 27/12, 2017, Página(s) 445-453, ISSN 1744-6872
Editor: Lippincott Williams & Wilkins Ltd.
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Restless legs syndrome is contributing to fatigue and low quality of life levels in hemodialysis patients

Autores: Christoforos D Giannaki, Michael Hadjigavriel, Akis Lazarou, Aristos Michael, Loukas Damianou, Efthimios Atmatzidis, Ioannis Stefanidis, Georgios M Hadjigeorgiou, Giorgos K Sakkas, Marios Pantzaris
Publicado en: World Journal of Nephrology, Edición 6/5, 2017, Página(s) 236, ISSN 2220-6124
Editor: Baishideng Publishing Group
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Editorial

Autores: K. Kyriacou, Panayiotis Yiallouros
Publicado en: Ultrastructural Pathology, Edición 41/6, 2017, Página(s) 370-372, ISSN 0191-3123
Editor: Taylor & Francis
DOI: 10.1080/01913123.2017.1367361

46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin

Autores: Assimina Galli Tsinopoulou, Anastasios Serbis, Eleni P. Kotanidou, Eleni Litou, Vaia Dokousli, Konstantina Mouzaki, Pavlos Fanis, Vassos Neocleous, Nicos Skordis
Publicado en: Journal of Clinical Research in Pediatric Endocrinology, Edición 10/1, 2018, Página(s) 74-78, ISSN 1308-5727
Editor: Pubbiz Publishing Solutions
DOI: 10.4274/jcrpe.4829

Mycoplasma pneumoniae as a cause of vulvar ulcers in a non-sexually active girl: a case report

Autores: Maria G. Koliou, Talia Kakourou, Jan Richter, Christina Christodoulou, Elpidoforos S. Soteriades
Publicado en: Journal of Medical Case Reports, Edición 11/1, 2017, ISSN 1752-1947
Editor: BioMed Central
DOI: 10.1186/s13256-017-1345-9

HPV prevalence and type distribution in Cypriot women with cervical cytological abnormalities

Autores: George Krashias, Dana Koptides, Christina Christodoulou
Publicado en: BMC Infectious Diseases, Edición 17/1, 2017, ISSN 1471-2334
Editor: BioMed Central
DOI: 10.1186/s12879-017-2439-0

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

Autores: Felix R Day, Deborah J Thompson, Hannes Helgason, Daniel I Chasman, Hilary Finucane, Patrick Sulem, Katherine S Ruth, Sean Whalen, Abhishek K Sarkar, Eva Albrecht, Elisabeth Altmaier, Marzyeh Amini, Caterina M Barbieri, Thibaud Boutin, Archie Campbell, Ellen Demerath, Ayush Giri, Chunyan He, Jouke J Hottenga, Robert Karlsson, Ivana Kolcic, Po-Ru Loh, Kathryn L Lunetta, Massimo Mangino, Brumat Marc
Publicado en: Nature Genetics, Edición 49/6, 2017, Página(s) 834-841, ISSN 1061-4036
Editor: Nature Publishing Group
DOI: 10.1038/ng.3841

C1q ablation exacerbates amyloid deposition: A study in a transgenic mouse model of ATTRV30M amyloid neuropathy

Autores: Elena Panayiotou, Eleni Fella, Revekka Papacharalambous, Stavros Malas, Maria Joao Saraiva, Theodoros Kyriakides
Publicado en: PLOS ONE, Edición 12/4, 2017, Página(s) e0175767, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0175767

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

Autores: Nuria C. Bramswig, Hermann-Josef Lüdecke, Fadi F. Hamdan, Janine Altmüller, Filippo Beleggia, Nursel H. Elcioglu, Catharine Freyer, Erica H. Gerkes, Yasemin Kendir Demirkol, Kelly G. Knupp, Alma Kuechler, Yun Li, Daniel H. Lowenstein, Jacques L. Michaud, Kristen Park, Alexander P.A. Stegmann, Hermine E. Veenstra-Knol, Thomas Wieland, Bernd Wollnik, Hartmut Engels, Tim M. Strom, Tjitske Kleefstra
Publicado en: Human Genetics, Edición 136/7, 2017, Página(s) 821-834, ISSN 0340-6717
Editor: Springer Verlag
DOI: 10.1007/s00439-017-1795-6

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

Autores: Corin Badiu, Marco Bonomi, Ivan Borshchevsky, Martine Cools, Margarita Craen, Cristina Ghervan, Michael Hauschild, Eli Hershkovitz, Erik Hrabovszky, Anders Juul, Soo-Hyun Kim, Phillip Kumanov, Beatriz Lecumberri, Manuel C. Lemos, Vassos Neocleous, Marek Niedziela, Sandra Pekic Djurdjevic, Luca Persani, Franziska Phan-Hug, Duarte Pignatelli, Nelly Pitteloud, Vera Popovic, Richard Quinton, Nicos Sko
Publicado en: Orphanet Journal of Rare Diseases, Edición 12/1, 2017, ISSN 1750-1172
Editor: BioMed Central
DOI: 10.1186/s13023-017-0608-2

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Autores: Hermela Shimelis, Romy L.S. Mesman, Catharina Von Nicolai, Asa Ehlen, Lucia Guidugli, Charlotte Martin, Fabienne M.G.R. Calléja, Huong Meeks, Emily Hallberg, Jamie Hinton, Jenna Lilyquist, Chunling Hu, Cora M. Aalfs, Kristiina Aittomäki, Irene Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W. Beckmann, Javier Benitez, Natalia V. Bogdanova, Stig E. Bojesen, Manjeet K. Bolla, Anne-Lise Borres
Publicado en: Cancer Research, Edición 77/11, 2017, Página(s) 2789-2799, ISSN 0008-5472
Editor: American Association for Cancer Research
DOI: 10.1158/0008-5472.can-16-2568

The first human case of neuroinvasive West Nile virus infection identified in Cyprus

Autores: Niki I. Paphitou, Aristomenis Tourvas, Dora Floridou, Jan Richter, Christina Tryfonos, Christina Christodoulou
Publicado en: Journal of Infection and Public Health, Edición 10/6, 2017, Página(s) 891-893, ISSN 1876-0341
Editor: Elsevier BV
DOI: 10.1016/j.jiph.2017.02.003

TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer

Autores: Rainer Fagerholm, Sofia Khan, Marjanka K. Schmidt, Montserrat GarcClosas, Päivi Heikkilä, Jani Saarela, Jonathan Beesley, Maral Jamshidi, Kristiina Aittomäki, Jianjun Liu, H. Raza Ali, Irene L. Andrulis, Matthias W. Beckmann, Sabine Behrens, Fiona M. Blows, Hermann Brenner, Jenny Chang-Claude, Fergus J. Couch, Kamila Czene, Peter A. Fasching, Jonine Figueroa, Giuseppe Floris, Gord Glendon, Qi G
Publicado en: Oncotarget, Edición 8/11, 2017, Página(s) 18381-18398, ISSN 1949-2553
Editor: Impact Journals
DOI: 10.18632/oncotarget.15110

Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome

Autores: George A. Tanteles, Nayia Nicolaou, Andreas Syrimis, Rafaella Metaxa, Michael Nicolaou, Violetta Christophidou-Anastasiadou, Nicos Skordis
Publicado en: Clinical Dysmorphology, Edición 26/2, 2017, Página(s) 61-65, ISSN 0962-8827
Editor: Lippincott Williams and Wilkins
DOI: 10.1097/mcd.0000000000000170

Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing

Autores: Constantia Aristidou, Costas Koufaris, Athina Theodosiou, Mads Bak, Mana M. Mehrjouy, Farkhondeh Behjati, George Tanteles, Violetta Christophidou-Anastasiadou, Niels Tommerup, Carolina Sismani
Publicado en: PLOS ONE, Edición 12/1, 2017, Página(s) e0169935, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0169935

Mouse Stbd1 is N -myristoylated and affects ER–mitochondria association and mitochondrial morphology

Autores: Anthi Demetriadou, Julia Morales-Sanfrutos, Marianna Nearchou, Otto Baba, Kyriacos Kyriacou, Edward W. Tate, Anthi Drousiotou, Petros P. Petrou
Publicado en: Journal of Cell Science, Edición 130/5, 2017, Página(s) 903-915, ISSN 0021-9533
Editor: The Company of Biologists Ltd.
DOI: 10.1242/jcs.195263

Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations

Autores: Charles K. Abrams, Mikhail Goman, Sarah Wong, Steven S. Scherer, Kleopas A. Kleopa, Alejandro Peinado, Mona M. Freidin
Publicado en: Scientific Reports, Edición 7/1, 2017, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/srep40166

Mediterranean diet-gene interactions: A targeted metabolomics study in Greek-Cypriot women

Autores: Maria G. Kakkoura, Kleitos Sokratous, Christiana A. Demetriou, Maria A. Loizidou, Giorgos Loucaides, Eleni Kakouri, Andreas Hadjisavvas, Kyriacos Kyriacou
Publicado en: Molecular Nutrition & Food Research, Edición 61/4, 2017, Página(s) 1600558, ISSN 1613-4125
Editor: John Wiley & Sons Ltd.
DOI: 10.1002/mnfr.201600558

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

Autores: Nasim Mavaddat, Kyriaki Michailidou, Joe Dennis, Michael Lush, Laura Fachal, Andrew Lee, Jonathan P. Tyrer, Ting-Huei Chen, Qin Wang, Manjeet K. Bolla, Xin Yang, Muriel A. Adank, Thomas Ahearn, Kristiina Aittomäki, Jamie Allen, Irene L. Andrulis, Hoda Anton-Culver, Natalia N. Antonenkova, Volker Arndt, Kristan J. Aronson, Paul L. Auer, Päivi Auvinen, Myrto Barrdahl, Laura E. Beane Freeman, Matth
Publicado en: The American Journal of Human Genetics, Edición 104/1, 2019, Página(s) 21-34, ISSN 0002-9297
Editor: University of Chicago Press
DOI: 10.1016/j.ajhg.2018.11.002

Patisiran, an RNAi therapeutic for the treatment of hereditary transthyretin-mediated amyloidosis

Autores: Arnt V Kristen, Senda Ajroud-Driss, Isabel Conceição, Peter Gorevic, Theodoros Kyriakides, Laura Obici
Publicado en: Neurodegenerative Disease Management, Edición 9/1, 2019, Página(s) 5-23, ISSN 1758-2024
Editor: Future Medicine Ltd.
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SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits

Autores: Sheldon D. Michaelson, Emin D. Ozkan, Massimiliano Aceti, Sabyasachi Maity, Nerea Llamosas, Monica Weldon, Elisa Mizrachi, Thomas Vaissiere, Michael A. Gaffield, Jason M. Christie, J. Lloyd Holder, Courtney A. Miller, Gavin Rumbaugh
Publicado en: Nature Neuroscience, Edición 21/12, 2018, Página(s) 1-13, ISSN 1097-6256
Editor: Nature Publishing Group
DOI: 10.1038/s41593-018-0268-0

Replication study of GWAS risk loci in Greek multiple sclerosis patients

Autores: Georgios M. Hadjigeorgiou, Persia-Maria Kountra, Georgios Koutsis, Vana Tsimourtou, Vasileios Siokas, Maria Dardioti, Dimitrios Rikos, Chrysoula Marogianni, Athina-Maria Aloizou, Georgia Karadima, Styliani Ralli, Nikolaos Grigoriadis, Dimitrios Bogdanos, Marios Panas, Efthimios Dardiotis
Publicado en: Neurological Sciences, Edición 40/2, 2019, Página(s) 253-260, ISSN 1590-1874
Editor: Springer Verlag
DOI: 10.1007/s10072-018-3617-6

Does Natalizumab Induce or Aggravate Psoriasis? A Case Study and Review of the Literature

Autores: Sakis Lambrianides, Evgenios Kinnis, Eleni Leonidou, Marios Pantzaris
Publicado en: Case Reports in Neurology, Edición 10/3, 2019, Página(s) 286-291, ISSN 1662-680X
Editor: S. Karger AG
DOI: 10.1159/000492891

Multiple Integrated Non-clinical Studies Predict the Safety of Lentivirus-Mediated Gene Therapy for β-Thalassemia

Autores: Maria Rosa Lidonnici, Ylenia Paleari, Francesca Tiboni, Giacomo Mandelli, Claudia Rossi, Michela Vezzoli, Annamaria Aprile, Carsten Werner Lederer, Alessandro Ambrosi, Franck Chanut, Francesca Sanvito, Andrea Calabria, Valentina Poletti, Fulvio Mavilio, Eugenio Montini, Luigi Naldini, Patrizia Cristofori, Giuliana Ferrari
Publicado en: Molecular Therapy - Methods & Clinical Development, Edición 11, 2018, Página(s) 9-28, ISSN 2329-0501
Editor: Elsevier
DOI: 10.1016/j.omtm.2018.09.001

Adherence to pneumococcal conjugate vaccination schedule and uptake rate as compared to the established diphtheria-tetanus-acellular pertussis vaccination in Cyprus

Autores: Adamos Hadjipanayis, Elisavet Efstathiou, Kyriaki Michaelidou, Vasiliki Papaevangelou
Publicado en: Vaccine, Edición 36/38, 2018, Página(s) 5685-5691, ISSN 0264-410X
Editor: Elsevier BV
DOI: 10.1016/j.vaccine.2018.08.021

Identification of nine new susceptibility loci for endometrial cancer

Autores: Tracy A. O’Mara, Dylan M. Glubb, Frederic Amant, Daniela Annibali, Katie Ashton, John Attia, Paul L. Auer, Matthias W. Beckmann, Amanda Black, Manjeet K. Bolla, Hiltrud Brauch, Hermann Brenner, Louise Brinton, Daniel D. Buchanan, Barbara Burwinkel, Jenny Chang-Claude, Stephen J. Chanock, Chu Chen, Maxine M. Chen, Timothy H. T. Cheng, Christine L. Clarke, Mark Clendenning, Linda S. Cook, Fergus J
Publicado en: Nature Communications, Edición 9/1, 2018, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-018-05427-7

Degradation and remobilization of endogenous retroviruses by recombination during the earliest stages of a germ-line invasion

Autores: Ulrike Löber, Matthew Hobbs, Anisha Dayaram, Kyriakos Tsangaras, Kiersten Jones, David E. Alquezar-Planas, Yasuko Ishida, Joanne Meers, Jens Mayer, Claudia Quedenau, Wei Chen, Rebecca N. Johnson, Peter Timms, Paul R. Young, Alfred L. Roca, Alex D. Greenwood
Publicado en: Proceedings of the National Academy of Sciences, Edición 115/34, 2018, Página(s) 8609-8614, ISSN 0027-8424
Editor: National Academy of Sciences
DOI: 10.1073/pnas.1807598115

Novel Divergent Polar Bear-Associated Mastadenovirus Recovered from a Deceased Juvenile Polar Bear

Autores: Anisha Dayaram, Kyriakos Tsangaras, Selvaraj Pavulraj, Walid Azab, Nicole Groenke, Gudrun Wibbelt, Florian Sicks, Nikolaus Osterrieder, Alex D. Greenwood
Publicado en: mSphere, Edición 3/4, 2018, Página(s) e00171-18, ISSN 2379-5042
Editor: American Society for Microbiology
DOI: 10.1128/msphere.00171-18

Adaptation and conservation insights from the koala genome

Autores: Rebecca N. Johnson, Denis O’Meally, Zhiliang Chen, Graham J. Etherington, Simon Y. W. Ho, Will J. Nash, Catherine E. Grueber, Yuanyuan Cheng, Camilla M. Whittington, Siobhan Dennison, Emma Peel, Wilfried Haerty, Rachel J. O’Neill, Don Colgan, Tonia L. Russell, David E. Alquezar-Planas, Val Attenbrow, Jason G. Bragg, Parice A. Brandies, Amanda Yoon-Yee Chong, Janine E. Deakin, Federica Di Palma
Publicado en: Nature Genetics, Edición 50/8, 2018, Página(s) 1102-1111, ISSN 1061-4036
Editor: Nature Publishing Group
DOI: 10.1038/s41588-018-0153-5

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

Autores: Lang Wu, Wei Shi, Jirong Long, Xingyi Guo, Kyriaki Michailidou, Jonathan Beesley, Manjeet K. Bolla, Xiao-Ou Shu, Yingchang Lu, Qiuyin Cai, Fares Al-Ejeh, Esdy Rozali, Qin Wang, Joe Dennis, Bingshan Li, Chenjie Zeng, Helian Feng, Alexander Gusev, Richard T. Barfield, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Kristan J. Aronson, Paul L. Auer, Myrto Barrdahl, Caroline Baynes, Matthias W. Be
Publicado en: Nature Genetics, Edición 50/7, 2018, Página(s) 968-978, ISSN 1061-4036
Editor: Nature Publishing Group
DOI: 10.1038/s41588-018-0132-x

Positioning Europe for the EPITRANSCRIPTOMICS challenge

Autores: Michael F. Jantsch, Alessandro Quattrone, Mary O'Connell, Mark Helm, Michaela Frye, Manuel Macias-Gonzales, Marie Ohman, Stefan Ameres, Luc Willems, Francois Fuks, Anastasis Oulas, Stepanka Vanacova, Henrik Nielsen, Cecile Bousquet-Antonelli, Yuri Motorin, Jean-Yves Roignant, Nikolaos Balatsos, Andras Dinnyes, Pavel Baranov, Vincent Kelly, Ayelet Lamm, Gideon Rechavi, Mattia Pelizzola, Janis Liepi
Publicado en: RNA Biology, 2018, Página(s) 1-3, ISSN 1547-6286
Editor: Landes Bioscience
DOI: 10.1080/15476286.2018.1460996

Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses

Autores: Jodie N. Painter, Tracy A. O'Mara, Andrew P. Morris, Timothy H. T. Cheng, Maggie Gorman, Lynn Martin, Shirley Hodson, Angela Jones, Nicholas G. Martin, Scott Gordon, Anjali K. Henders, John Attia, Mark McEvoy, Elizabeth G. Holliday, Rodney J. Scott, Penelope M. Webb, Peter A. Fasching, Matthias W. Beckmann, Arif B. Ekici, Alexander Hein, Matthias Rübner, Per Hall, Kamila Czene, Thilo Dörk, Matth
Publicado en: Cancer Medicine, Edición 7/5, 2018, Página(s) 1978-1987, ISSN 2045-7634
Editor: Wiley
DOI: 10.1002/cam4.1445

Filling the gap between chemical carcinogenesis and the hallmarks of cancer: A temporal perspective

Autores: Christiana A. Demetriou, Davide Degli Esposti, Kristi Pullen Fedinick, Federica Russo, Oliver Robinson, Paolo Vineis
Publicado en: European Journal of Clinical Investigation, Edición 48/6, 2018, Página(s) e12933, ISSN 0014-2972
Editor: Blackwell Publishing Inc.
DOI: 10.1111/eci.12933

Comparative analysis of affected and unaffected areas of systemic sclerosis skin biopsies by high-throughput proteomic approaches

Autores: Paraskevi Chairta, Paschalis Nicolaou, Kleitos Sokratous, Christine Galant, Frédéric Houssiau, Anastasis Oulas, George M. Spyrou, Marta E. Alarcon-Riquelme, Bernard R. Lauwerys, Kyproula Christodoulou
Publicado en: Arthritis Research & Therapy, Edición 22/1, 2020, ISSN 1478-6362
Editor: Springer Nature
DOI: 10.1186/s13075-020-02196-x

PathWalks: Identifying pathway communities using a disease-related map of integrated information

Autores: Evangelos Karatzas, Margarita Zachariou, Marilena M Bourdakou, George Minadakis, Anastasis Oulas, George Kolios, Alex Delis, George M Spyrou
Publicado en: Bioinformatics, 2020, ISSN 1367-4803
Editor: Oxford University Press
DOI: 10.1093/bioinformatics/btaa291

In Silico Identification of Antimicrobial Peptides in the Proteomes of Goat and Sheep Milk and Feta Cheese

Autores: Marios Tomazou, Anastasis Oulas, Athanasios K. Anagnostopoulos, George Th. Tsangaris, George M. Spyrou
Publicado en: Proteomes, Edición 7/4, 2019, Página(s) 32, ISSN 2227-7382
Editor: MDPI
DOI: 10.3390/proteomes7040032

A Web Tool for Ranking Candidate Drugs Against a Selected Disease Based on a Combination of Functional and Structural Criteria

Autores: Evangelos Karatzas, George Minadakis, George Kolios, Alex Delis, George M. Spyrou
Publicado en: Computational and Structural Biotechnology Journal, Edición 17, 2019, Página(s) 939-945, ISSN 2001-0370
Editor: Elsevier
DOI: 10.1016/j.csbj.2019.05.010

Selecting variants of unknown significance through network-based gene-association significantly improves risk prediction for disease-control cohorts

Autores: Anastasis Oulas, George Minadakis, Margarita Zachariou, George M. Spyrou
Publicado en: Scientific Reports, Edición 9/1, 2019, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/s41598-019-39796-w

Inhibition of Breast Cancer Cell Invasion by Ras Suppressor-1 (RSU-1) Silencing Is Reversed by Growth Differentiation Factor-15 (GDF-15)

Autores: Vasiliki Gkretsi, Maria Louca, Andreas Stylianou, George Minadakis, George M. Spyrou, Triantafyllos Stylianopoulos
Publicado en: International Journal of Molecular Sciences, Edición 20/1, 2019, Página(s) 163, ISSN 1422-0067
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms20010163

Valorization of agricultural wastes could improve soil fertility and mitigate soil direct N2O emissions

Autores: Ioannis Anastopoulos, Michalis Omirou, Coralea Stephanou, Anastasios Oulas, Michalis A. Vasiliades, Angelos M. Efstathiou, Ioannis M. Ioannides
Publicado en: Journal of Environmental Management, Edición 250, 2019, Página(s) 109389, ISSN 0301-4797
Editor: Academic Press
DOI: 10.1016/j.jenvman.2019.109389

18F-Fluorodeoxyglucose Positron Emission Tomography/Computed Tomographic Imaging Detects Aortic Wall Inflammation in Patients With Repaired Coarctation of Aorta

Autores: Stella Brili, Evangelos Oikonomou, Alexios S. Antonopoulos, Nikoletta Pianou, Alexandros Georgakopoulos, Iosif Koutagiar, Pavlos Kafouris, Evangelia Stroumpouli, Christos Dounis, Marinos Metaxas, George Spyrou, Constantinos D. Anagnostopoulos, Dimitris Tousoulis
Publicado en: Circulation: Cardiovascular Imaging, Edición 11/1, 2018, ISSN 1941-9651
Editor: Lippincott Williams & Wilkins Ltd.
DOI: 10.1161/circimaging.117.007002

Omega-3 Fatty Acids Supplementation: Therapeutic Potential in a Mouse Model of Stargardt Disease

Autores: Ekatherine Prokopiou, Panagiotis Kolovos, Maria Kalogerou, Anastasia Neokleous, Orthodoxia Nicolaou, Kleitos Sokratous, Kyriacos Kyriacou, Tassos Georgiou
Publicado en: Investigative Opthalmology & Visual Science, Edición 59/7, 2018, Página(s) 2757, ISSN 1552-5783
Editor: ARVO
DOI: 10.1167/iovs.17-23523

Restless legs syndrome in Multiple Sclerosis patients: a contributing factor for fatigue, impaired functional capacity, and diminished health-related quality of life

Autores: Christoforos D. Giannaki, Panagiotis Aristotelous, Manos Stefanakis, Georgios M. Hadjigeorgiou, Mauro Manconi, Eleni Leonidou, Giorgos K. Sakkas, Marios Pantzaris
Publicado en: Neurological Research, Edición 40/7, 2018, Página(s) 588-594, ISSN 0161-6412
Editor: Maney Publishing
DOI: 10.1080/01616412.2018.1454719

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Autores: Valérie Turcot, Yingchang Lu, Heather M. Highland, Claudia Schurmann, Anne E. Justice, Rebecca S. Fine, Jonathan P. Bradfield, Tõnu Esko, Ayush Giri, Mariaelisa Graff, Xiuqing Guo, Audrey E. Hendricks, Tugce Karaderi, Adelheid Lempradl, Adam E. Locke, Anubha Mahajan, Eirini Marouli, Suthesh Sivapalaratnam, Kristin L. Young, Tamuno Alfred, Mary F. Feitosa, Nicholas G. D. Masca, Alisa K. Manning,
Publicado en: Nature Genetics, Edición 50/5, 2018, Página(s) 766-767, ISSN 1061-4036
Editor: Nature Publishing Group
DOI: 10.1038/s41588-018-0082-3

Monitoring opioid and benzodiazepine use and abuse: Is oral fluid or urine the preferred specimen type?

Autores: Athena K. Petrides, Stacy E.F. Melanson, Michalis Kantartjis, Rachel D. Le, Christiana A. Demetriou, James G. Flood
Publicado en: Clinica Chimica Acta, Edición 481, 2018, Página(s) 75-82, ISSN 0009-8981
Editor: Elsevier BV
DOI: 10.1016/j.cca.2018.02.034

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

Autores: Mara Colombo, Irene Lòpez-Perolio, Huong D. Meeks, Laura Caleca, Michael T. Parsons, Hongyan Li, Giovanna De Vecchi, Emma Tudini, Claudia Foglia, Patrizia Mondini, Siranoush Manoukian, Raquel Behar, Encarna B. Gómez Garcia, Alfons Meindl, Marco Montagna, Dieter Niederacher, Ane Y. Schmidt, Liliana Varesco, Barbara Wappenschmidt, Manjeet K. Bolla, Joe Dennis, Kyriaki Michailidou, Qin Wang, Kristi
Publicado en: Human Mutation, Edición 39/5, 2018, Página(s) 729-741, ISSN 1059-7794
Editor: John Wiley & Sons Inc.
DOI: 10.1002/humu.23411

An electroglottographical analysis-based discriminant function model differentiating multiple sclerosis patients from healthy controls

Autores: George D. Vavougios, Triantafyllos Doskas, Kostas Konstantopoulos
Publicado en: Neurological Sciences, Edición 39/5, 2018, Página(s) 847-850, ISSN 1590-1874
Editor: Springer Verlag
DOI: 10.1007/s10072-018-3267-8

Peripheral neuropathies and the vestibular system: Is there a role for vestibular rehabilitation?

Autores: Eleftherios S. Papathanasiou
Publicado en: Clinical Neurophysiology, Edición 129/4, 2018, Página(s) 847-848, ISSN 1388-2457
Editor: Elsevier BV
DOI: 10.1016/j.clinph.2018.01.013

Effects of controlled dehydration on sleep quality and quantity: A polysomnographic study in healthy young adults

Autores: Panagiotis Aristotelous, George Aphamis, Giorgos K. Sakkas, Eleni Andreou, Marios Pantzaris, Theodoros Kyprianou, Georgios M. Hadjigeorgiou, Mauro Manconi, Christoforos D. Giannaki
Publicado en: Journal of Sleep Research, Edición 28/3, 2018, Página(s) e12662, ISSN 0962-1105
Editor: Blackwell Publishing Inc.
DOI: 10.1111/jsr.12662

Oral health training, knowledge, attitudes and practices of primary care paediatricians: a European survey

Autores: Adamos Hadjipanayis, Zachi Grossman, Stefano del Torso, Kyriaki Michailidou, Diego Van Esso, Rita Cauwels
Publicado en: European Journal of Pediatrics, Edición 177/5, 2018, Página(s) 675-681, ISSN 0340-6199
Editor: Springer Verlag
DOI: 10.1007/s00431-018-3108-z

Evaluation of nipple aspirate fluid as a diagnostic tool for early detection of breast cancer

Autores: Sadr-ul Shaheed, Catherine Tait, Kyriacos Kyriacou, Richard Linforth, Mohamed Salhab, Chris Sutton
Publicado en: Clinical Proteomics, Edición 15/1, 2018, ISSN 1542-6416
Editor: Humana Press, Inc.
DOI: 10.1186/s12014-017-9179-4

Arterial tortuosity syndrome: 40 new families and literature review

Autores: Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al-Essa, Waheed Al-Manea, Damien Bonnet, Ozlem Bostan, Odile Boute, Tiffany Busa, Nathalie Canham, Ergun Cil, Paul J Coucke, Margot A Cousin, Majed Dasouki, Julie De Backer, Anne De Paepe, Sofie De Schepper, Deepthi De Silva, Koenraad Devriendt, Inge De Wandele, David R Deyle, Harry Dietz, Sophie Dupuis-Girod, Eudice Fontenot, Björn Fischer
Publicado en: Genetics in Medicine, Edición 20/10, 2018, Página(s) 1236-1245, ISSN 1098-3600
Editor: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/gim.2017.253

Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium

Autores: Anja Rudolph, Minsun Song, Mark N Brook, Roger L Milne, Nasim Mavaddat, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Amber N Wilcox, John L Hopper, Melissa C Southey, Renske Keeman, Peter A Fasching, Matthias W Beckmann, Manuela Gago-Dominguez, Jose E Castelao, Pascal Guénel, Thérèse Truong, Stig E Bojesen, Henrik Flyger, Hermann Brenner, Volker Arndt, Hiltrud Brauch, Thomas Brü
Publicado en: International Journal of Epidemiology, Edición 47/2, 2018, Página(s) 526-536, ISSN 0300-5771
Editor: Oxford University Press
DOI: 10.1093/ije/dyx242

A European multicentre evaluation of detection and typing methods for human enteroviruses and parechoviruses using RNA transcripts

Autores: A. Hayes, D. Nguyen, M. Andersson, A. Antón, J.‐L. Bailly, S. Beard, K. S. M. Benschop, N. Berginc, S. Blomqvist, E. Cunningham, D. Davis, J. L. Dembinski, S. Diedrich, S. G. Dudman, R. Dyrdak, G. J. A. Eltringham, S. Gonzales‐Goggia, R. Gunson, H. C. Howson‐Wells, A. J. Jääskeläinen, F. X. López‐Labrador, M. Maier, M. Majumdar, S. Midgley, A. Mirand, U. Morley, S. A. Nordbø, S. Oika
Publicado en: Journal of Medical Virology, 2020, ISSN 0146-6615
Editor: John Wiley & Sons Inc.
DOI: 10.1002/jmv.25659

A Mendelian randomization analysis of circulating lipid traits and breast cancer risk

Autores: Alicia Beeghly-Fadiel, Nikhil K Khankari, Ryan J Delahanty, Xiao-Ou Shu, Yingchang Lu, Marjanka K Schmidt, Manjeet K Bolla, Kyriaki Michailidou, Qin Wang, Joe Dennis, Drakoulis Yannoukakos, Alison M Dunning, Paul D P Pharoah, Georgia Chenevix-Trench, Roger L Milne, David J Hunter, Hall Per, Peter Kraft, Jacques Simard, Douglas F Easton, Wei Zheng
Publicado en: International Journal of Epidemiology, 2019, ISSN 0300-5771
Editor: Oxford University Press
DOI: 10.1093/ije/dyz242

Vaccine confidence among parents: Large scale study in eighteen European countries

Autores: Adamos Hadjipanayis, Diego van Esso, Stefano del Torso, Hans Jürgen Dornbusch, Kyriaki Michailidou, Nadia Minicuci, Ruzha Pancheva, Aida Mujkic, Karin Geitmann, Garyfallia Syridou, Peter Altorjai, Angela Pasinato, Arunas Valiulis, Paul Soler, Olga Cirstea, Károly Illy, Liesbeth Mollema, Artur Mazur, Ana Neves, Jernej Zavrsnik, Fedir Lapii, Elisavet Efstathiou, Mascha Kamphuis, Zachi Grossman
Publicado en: Vaccine, Edición 38/6, 2020, Página(s) 1505-1512, ISSN 0264-410X
Editor: Elsevier BV
DOI: 10.1016/j.vaccine.2019.11.068

Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

Autores: George Koumbaris, Achilleas Achilleos, Michalis Nicolaou, Charalambos Loizides, Kyriakos Tsangaras, Elena Kypri, Petros Mina, Carolina Sismani, Voula Velissariou, Georgia Christopoulou, Pantelis Constantoulakis, Emmanouil Manolakos, Ioannis Papoulidis, Danai Stambouli, Marios Ioannides, Philippos Patsalis
Publicado en: Molecular Cytogenetics, Edición 12/1, 2019, ISSN 1755-8166
Editor: BioMed Central
DOI: 10.1186/s13039-019-0459-8

C5aR agonist enhances phagocytosis of fibrillar and non-fibrillar Aβ amyloid and preserves memory in a mouse model of familial Alzheimer’s disease

Autores: Elena Panayiotou, Eleni Fella, Savanna Andreou, Revekka Papacharalambous, Petroula Gerasimou, Paul Costeas, Stella Angeli, Ioanna Kousiappa, Savvas Papacostas, Theodoros Kyriakides
Publicado en: PLOS ONE, Edición 14/12, 2019, Página(s) e0225417, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0225417

Gene therapy approaches targeting Schwann cells for demyelinating neuropathies

Autores: Irene Sargiannidou, Alexia Kagiava, Kleopas A. Kleopa
Publicado en: Brain Research, Edición 1728, 2020, Página(s) 146572, ISSN 0006-8993
Editor: Elsevier BV
DOI: 10.1016/j.brainres.2019.146572

Provider Misinterpretation, Documentation, and Follow-Up of Definitive Urine Drug Testing Results

Autores: Isaac Chua, Athena K. Petrides, Gordon D. Schiff, Jaime R. Ransohoff, Michalis Kantartjis, Jocelyn Streid, Christiana A. Demetriou, Stacy E. F. Melanson
Publicado en: Journal of General Internal Medicine, Edición 35/1, 2020, Página(s) 283-290, ISSN 0884-8734
Editor: Blackwell Publishing Inc.
DOI: 10.1007/s11606-019-05514-5

Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

Autores: Amand F. Schmidt, Michael V. Holmes, David Preiss, Daniel I. Swerdlow, Spiros Denaxas, Ghazaleh Fatemifar, Rupert Faraway, Chris Finan, Dennis Valentine, Zammy Fairhurst-Hunter, Fernando Pires Hartwig, Bernardo Lessa Horta, Elina Hypponen, Christine Power, Max Moldovan, Erik van Iperen, Kees Hovingh, Ilja Demuth, Kristina Norman, Elisabeth Steinhagen-Thiessen, Juri Demuth, Lars Bertram, Christina
Publicado en: BMC Cardiovascular Disorders, Edición 19/1, 2019, ISSN 1471-2261
Editor: BioMed Central
DOI: 10.1186/s12872-019-1187-z

Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5′-UTR Region of the Imprinted MKRN3 Gene

Autores: Pavlos Fanis, Nicos Skordis, Meropi Toumba, Nikoletta Papaioannou, Anestis Makris, Andreas Kyriakou, Vassos Neocleous, Leonidas A. Phylactou
Publicado en: Frontiers in Endocrinology, Edición 10, 2019, ISSN 1664-2392
Editor: Frontiers Media
DOI: 10.3389/fendo.2019.00677

A novel case of inclusion body myositis and myasthenia gravis

Autores: Sakis Lambrianides, Evgenios Kinnis, Michele Cleanthous, Revekka Papacharalambous, Elena Panayiotou, Eleni Zamba-Papanicolaou, Theodoros Kyriakides
Publicado en: Neuromuscular Disorders, Edición 29/10, 2019, Página(s) 771-775, ISSN 0960-8966
Editor: Elsevier BV
DOI: 10.1016/j.nmd.2019.09.004

Evidence for miR-548c-5p regulation of FOXC2 transcription through a distal genomic target site in human podocytes

Autores: Andrea Christofides, Gregory Papagregoriou, Harsh Dweep, Neoklis Makrides, Norbert Gretz, Kyriacos Felekkis, Constantinos Deltas
Publicado en: Cellular and Molecular Life Sciences, 2019, ISSN 1420-682X
Editor: Birkhauser Verlag
DOI: 10.1007/s00018-019-03294-z

Retrospective longitudinal study of ALS in Cyprus: Clinical characteristics, management and survival

Autores: Christiana A. Demetriou, Petros M. Hadjivasiliou, Kleopas A. Kleopa, Yiolanda P. Christou, Eleni Leonidou, Theodoros Kyriakides, Eleni Zamba-Papanicolaou
Publicado en: PLOS ONE, Edición 14/9, 2019, Página(s) e0220246, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0220246

Associations between functional capacity, isokinetic leg strength, sleep quality and cognitive function in multiple sclerosis patients: a cross-sectional study

Autores: Panayiotis Aristotelous, Manos Stefanakis, Marios Pantzaris, Constantinos Pattichis, Georgios M Hadjigeorgiou, Christoforos D Giannaki
Publicado en: Postgraduate Medicine, Edición 131/7, 2019, Página(s) 453-460, ISSN 0032-5481
Editor: Mcgraw Hill
DOI: 10.1080/00325481.2019.1662271

TREM2 R47H (rs75932628) variant is unlikely to contribute to Multiple Sclerosis susceptibility and severity in a large Greek MS cohort

Autores: Dimitrios Rikos, Vasileios Siokas, Athina-Maria Aloizou, Zisis Tsouris, Paraskevi Aslanidou, Georgios Koutsis, Maria Anagnostouli, Dimitrios P. Bogdanos, Nikolaos Grigoriadis, Georgios M Hadjigeorgiou, Efthimios Dardiotis
Publicado en: Multiple Sclerosis and Related Disorders, Edición 35, 2019, Página(s) 116-118, ISSN 2211-0348
Editor: Elsevier
DOI: 10.1016/j.msard.2019.07.007

A retrospective observational study of rituximab treatment in multiple sclerosis patients in Cyprus

Autores: Eleni Leonidou, Marios Pantzaris, Kleopas A. Kleopa, Maria A. Loizidou, Theodoros Kyriakides, Yiolanda P. Christou
Publicado en: Postgraduate Medicine, Edición 131/7, 2019, Página(s) 486-489, ISSN 0032-5481
Editor: Mcgraw Hill
DOI: 10.1080/00325481.2019.1649975

Association between variants of neuromedin U gene and taste thresholds and food preferences in European children: Results from the IDEFICS study

Autores: Claudio Grippi, Wolfgang Ahrens, Kirsten Buchecker, Charalambos Chadjigeorgiou, Stefaan De Henauw, Anna C. Koni, Ronja Foraita, Lauren Lissner, Denés Molnár, Luis A. Moreno, Yannis Pitsiladis, Lucia A. Reisch, Paola Russo, Alfonso Siani, Toomas Veidebaum, Licia Iacoviello, Francesco Gianfagna
Publicado en: Appetite, Edición 142, 2019, Página(s) 104376, ISSN 0195-6663
Editor: Elsevier BV
DOI: 10.1016/j.appet.2019.104376

Smoking does not accelerate leucocyte telomere attrition: a meta-analysis of 18 longitudinal cohorts

Autores: Melissa Bateson, Abraham Aviv, Laila Bendix, Athanase Benetos, Yoav Ben-Shlomo, Stig E. Bojesen, Cyrus Cooper, Rachel Cooper, Ian J. Deary, Sara Hägg, Sarah E. Harris, Jeremy D. Kark, Florian Kronenberg, Diana Kuh, Carlos Labat, Carmen M. Martin-Ruiz, Craig Meyer, Børge G. Nordestgaard, Brenda W. J. H. Penninx, Gillian V. Pepper, Dóra Révész, M. Abdullah Said, John M. Starr, Holly Syddall, Wi
Publicado en: Royal Society Open Science, Edición 6/6, 2019, Página(s) 190420, ISSN 2054-5703
Editor: Royal Society of Chemistry (RSC) Publishing
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Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

Autores: Hunna J. Watson, Zeynep Yilmaz, Laura M. Thornton, Christopher Hübel, Jonathan R. I. Coleman, Héléna A. Gaspar, Julien Bryois, Anke Hinney, Virpi M. Leppä, Manuel Mattheisen, Sarah E. Medland, Stephan Ripke, Shuyang Yao, Paola Giusti-Rodríguez, Ken B. Hanscombe, Kirstin L. Purves, Roger A. H. Adan, Lars Alfredsson, Tetsuya Ando, Ole A. Andreassen, Jessica H. Baker, Wade H. Berrettini, Ilka Bo
Publicado en: Nature Genetics, Edición 51/8, 2019, Página(s) 1207-1214, ISSN 1061-4036
Editor: Nature Publishing Group
DOI: 10.1038/s41588-019-0439-2

Why and when to refer patients for vestibular evoked myogenic potentials: A critical review

Autores: E.S. Papathanasiou, D. Straumann
Publicado en: Clinical Neurophysiology, Edición 130/9, 2019, Página(s) 1539-1556, ISSN 1388-2457
Editor: Elsevier BV
DOI: 10.1016/j.clinph.2019.04.719

Does SCFD1 rs10139154 Polymorphism Decrease Alzheimer’s Disease Risk?

Autores: Polyxeni Stamati, Vasileios Siokas, Athina-Maria Aloizou, Emmanouil Karampinis, Stylianos Arseniou, Valerii N. Rakitskii, Aristidis Tsatsakis, Demetrios A. Spandidos, Illana Gozes, Panayiotis D. Mitsias, Dimitrios P. Bogdanos, Georgios M. Hadjigeorgiou, Efthimios Dardiotis
Publicado en: Journal of Molecular Neuroscience, Edición 69/2, 2019, Página(s) 343-350, ISSN 0895-8696
Editor: Humana Press, Inc.
DOI: 10.1007/s12031-019-01363-3

The role of oligodendrocyte gap junctions in neuroinflammation

Autores: Christos Papaneophytou, Elena Georgiou, Kleopas A. Kleopa
Publicado en: Channels, Edición 13/1, 2019, Página(s) 247-263, ISSN 1933-6950
Editor: Landes Bioscience
DOI: 10.1080/19336950.2019.1631107

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Autores: Davut Pehlivan, Yavuz Bayram, Nilay Gunes, Zeynep Coban Akdemir, Anju Shukla, Tatjana Bierhals, Burcu Tabakci, Yavuz Sahin, Alper Gezdirici, Jawid M. Fatih, Elif Yilmaz Gulec, Gozde Yesil, Jaya Punetha, Zeynep Ocak, Christopher M. Grochowski, Ender Karaca, Hatice Mutlu Albayrak, Periyasamy Radhakrishnan, Haktan Bagis Erdem, Ibrahim Sahin, Timur Yildirim, Ilhan A. Bayhan, Aysegul Bursali, Muhsin El
Publicado en: The American Journal of Human Genetics, Edición 105/1, 2019, Página(s) 132-150, ISSN 0002-9297
Editor: University of Chicago Press
DOI: 10.1016/j.ajhg.2019.05.015

Authors’ response: Associations of obesity and circulating insulin and glucose with breast cancer risk

Autores: Xiang Shu, Lang Wu, Nikhil K Khankari, Xiao-Ou Shu, Thomas J Wang, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Roger L Milne, Marjanka K Schmidt, Paul Pharoah, Irene L Andrulis, David J Hunter, Jacques Simard, Douglas F Easton, Wei Zheng
Publicado en: International Journal of Epidemiology, Edición 48/3, 2019, Página(s) 1016-1017, ISSN 0300-5771
Editor: Oxford University Press
DOI: 10.1093/ije/dyz015

Cost-effectiveness analysis of three algorithms for diagnosing primary ciliary dyskinesia: a simulation study

Autores: Panayiotis Kouis, Stefania I. Papatheodorou, Nicos Middleton, George Giallouros, Kyriacos Kyriacou, Joshua T. Cohen, John S. Evans, Panayiotis K. Yiallouros
Publicado en: Orphanet Journal of Rare Diseases, Edición 14/1, 2019, ISSN 1750-1172
Editor: BioMed Central
DOI: 10.1186/s13023-019-1116-3

Assessment of melanoma candidate genes in a meta‐analysis of 16 534 melanoma cases

Autores: G. Ntritsos, N. Dimou, K. Kypreou, I. Stefanaki, M.A. Loizidou, A. Hadjisavvas, K. Kyriacou, S. MacGregor, M.H. Law, M.M. Iles, A.J. Stratigos, E. Evangelou
Publicado en: Journal of the European Academy of Dermatology and Venereology, Edición 33/10, 2019, ISSN 0926-9959
Editor: Elsevier BV
DOI: 10.1111/jdv.15662

The functional ALDH2 polymorphism is associated with breast cancer risk: A pooled analysis from the Breast Cancer Association Consortium

Autores: Tomotaka Ugai, Roger L. Milne, Hidemi Ito, Kristan J. Aronson, Manjeet K. Bolla, Tsun Chan, Ching W. Chan, Ji-Yeob Choi, Don M. Conroy, Joe Dennis, Alison M. Dunning, Douglas F. Easton, Valerie Gaborieau, Anna Gonzalez-Neira, Mikael Hartman, Catherine S. Healey, Motoki Iwasaki, Esther M. John, Daehee Kang, Sung-Won Kim, Ava Kwong, Artitaya Lophatananon, Kyriaki Michailidou, Nur Aishah Mohd Taib, K
Publicado en: Molecular Genetics & Genomic Medicine, Edición 7/6, 2019, Página(s) e707, ISSN 2324-9269
Editor: Wiley
DOI: 10.1002/mgg3.707

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Autores: Manuel A. Ferreira, Eric R. Gamazon, Fares Al-Ejeh, Kristiina Aittomäki, Irene L. Andrulis, Hoda Anton-Culver, Adalgeir Arason, Volker Arndt, Kristan J. Aronson, Banu K. Arun, Ella Asseryanis, Jacopo Azzollini, Judith Balmaña, Daniel R. Barnes, Daniel Barrowdale, Matthias W. Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Katarzyna Białkowska, Carl Blomqvist, Natalia V. Bogdanova,
Publicado en: Nature Communications, Edición 10/1, 2019, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-018-08053-5

Montreal Cognitive Assessment in a Greek sample of patients with multiple sclerosis: A validation study

Autores: Kostas Konstantopoulos, Paris Vogazianos
Publicado en: Applied Neuropsychology: Adult, 2019, Página(s) 1-5, ISSN 2327-9109
Editor: Taylor and Francis
DOI: 10.1080/23279095.2019.1588123

Standardizing the way we perform and apply vestibular evoked myogenic potentials (VEMPs)

Autores: Eleftherios S. Papathanasiou
Publicado en: Clinical Neurophysiology Practice, Edición 4, 2019, Página(s) 37-38, ISSN 2467-981X
Editor: Elsevier
DOI: 10.1016/j.cnp.2019.02.001

ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population

Autores: Efthimios Dardiotis, Emmanouil Karampinis, Vasileios Siokas, Athina-Maria Aloizou, Dimitrios Rikos, Styliani Ralli, Dimitra Papadimitriou, Dimitrios P. Bogdanos, Georgios M. Hadjigeorgiou
Publicado en: Neurological Sciences, Edición 40/6, 2019, Página(s) 1237-1244, ISSN 1590-1874
Editor: Springer Verlag
DOI: 10.1007/s10072-019-03825-3

Vestibular evoked myogenic potentials (VEMPs) in systemic disease

Autores: Eleftherios S. Papathanasiou
Publicado en: Clinical Neurophysiology, Edición 130/5, 2019, Página(s) 789-790, ISSN 1388-2457
Editor: Elsevier BV
DOI: 10.1016/j.clinph.2019.02.009

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

Autores: Anne E. Justice, Tugce Karaderi, Heather M. Highland, Kristin L. Young, Mariaelisa Graff, Yingchang Lu, Valérie Turcot, Paul L. Auer, Rebecca S. Fine, Xiuqing Guo, Claudia Schurmann, Adelheid Lempradl, Eirini Marouli, Anubha Mahajan, Thomas W. Winkler, Adam E. Locke, Carolina Medina-Gomez, Tõnu Esko, Sailaja Vedantam, Ayush Giri, Ken Sin Lo, Tamuno Alfred, Poorva Mudgal, Maggie C. Y. Ng, Nancy L
Publicado en: Nature Genetics, Edición 51/3, 2019, Página(s) 452-469, ISSN 1061-4036
Editor: Nature Publishing Group
DOI: 10.1038/s41588-018-0334-2

Shared heritability and functional enrichment across six solid cancers

Autores: Xia Jiang, Hilary K. Finucane, Fredrick R. Schumacher, Stephanie L. Schmit, Jonathan P. Tyrer, Younghun Han, Kyriaki Michailidou, Corina Lesseur, Karoline B. Kuchenbaecker, Joe Dennis, David V. Conti, Graham Casey, Mia M. Gaudet, Jeroen R. Huyghe, Demetrius Albanes, Melinda C. Aldrich, Angeline S. Andrew, Irene L. Andrulis, Hoda Anton-Culver, Antonis C. Antoniou, Natalia N. Antonenkova, Susanne M.
Publicado en: Nature Communications, Edición 10/1, 2019, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-018-08054-4

Transthyretin deposition in the eye in the era of effective therapy for hereditary ATTRV30M amyloidosis

Autores: Joel N. Buxbaum, Thomas Brannagan, Juan Buades-Reinés, Eugenia Cisneros, Isabel Conceicao, Theodoros Kyriakides, Giampaolo Merlini, Laura Obici, Violaine Plante-Bordeneuve, Antoine Rousseau, Yoshiki Sekijima, Akira Imai, Márcia Waddington Cruz, Masahito Yamada
Publicado en: Amyloid, Edición 26/1, 2019, Página(s) 10-14, ISSN 1350-6129
Editor: Parthenon Publishing Group
DOI: 10.1080/13506129.2018.1554563

Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci

Autores: A. Mesut Erzurumluoglu, Mengzhen Liu, Victoria E. Jackson, Daniel R. Barnes, Gargi Datta, Carl A. Melbourne, Robin Young, Chiara Batini, Praveen Surendran, Tao Jiang, Sheikh Daud Adnan, Saima Afaq, Arpana Agrawal, Elisabeth Altmaier, Antonis C. Antoniou, Folkert W. Asselbergs, Clemens Baumbach, Laura Bierut, Sarah Bertelsen, Michael Boehnke, Michiel L. Bots, David M Brazel, John C. Chambers, Jenny
Publicado en: Molecular Psychiatry, 2019, ISSN 1359-4184
Editor: Nature Publishing Group
DOI: 10.1038/s41380-018-0313-0

Correction: Arterial tortuosity syndrome: 40 new families and literature review

Autores: Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al-Essa, Waheed Al-Manea, Damien Bonnet, Ozlem Bostan, Odile Boute, Tiffany Busa, Nathalie Canham, Ergun Cil, Paul J. Coucke, Margot A. Cousin, Majed Dasouki, Julie De Backer, Anne De Paepe, Sofie De Schepper, Deepthi De Silva, Koenraad Devriendt, Inge De Wandele, David R. Deyle, Harry Dietz, Sophie Dupuis-Girod, Eudice Fontenot, Björn Fisc
Publicado en: Genetics in Medicine, Edición 21/8, 2019, Página(s) 1894-1895, ISSN 1098-3600
Editor: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-018-0035-3

Clustering of known low and moderate risk alleles rather than a novel recessive high‐risk gene in non‐BRCA1 /2 sib trios affected with breast cancer

Autores: Florentine S. Hilbers, Peter J. van 't Hof, Caro M. Meijers, Hailiang Mei, Kyriaki Michailidou, Joe Dennis, Frans B. L. Hogervorst, Petra M. Nederlof, Christi J. van Asperen, Peter Devilee
Publicado en: International Journal of Cancer, 2020, ISSN 0020-7136
Editor: John Wiley & Sons Inc.
DOI: 10.1002/ijc.33039

First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature

Autores: Kritioti Evie, Theodosiou Athina, Nicolaou Nayia, Alexandrou Angelos, Papaevripidou Ioannis, Efstathiou Elisavet, Christophidou-Anastasiadou Violetta, Sismani Carolina, Tanteles A. George
Publicado en: European Journal of Medical Genetics, 2020, Página(s) 103939, ISSN 1769-7212
Editor: Elsevier BV
DOI: 10.1016/j.ejmg.2020.103939

Combined associations of a polygenic risk score and classical risk factors with breast cancer risk

Autores: Pooja Middha Kapoor, Nasim Mavaddat, Parichoy Pal Choudhury, Amber N Wilcox, Sara Lindström, Sabine Behrens, Kyriaki Michailidou, Joe Dennis, Manjeet K Bolla, Qin Wang, Audrey Jung, Zomoroda Abu-Ful, Thomas Ahearn, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Kristan J Aronson, Paul L Auer, Laura E Beane Freeman, Heiko Becher, Matthias W Beckmann, Alicia Beeghly-Fadiel, Javier Benitez, Lesl
Publicado en: JNCI: Journal of the National Cancer Institute, 2020, ISSN 0027-8874
Editor: Oxford University Press
DOI: 10.1093/jnci/djaa056

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

Autores: Maria Teresa Landi, D. Timothy Bishop, Stuart MacGregor, Mitchell J. Machiela, Alexander J. Stratigos, Paola Ghiorzo, Myriam Brossard, Donato Calista, Jiyeon Choi, Maria Concetta Fargnoli, Tongwu Zhang, Monica Rodolfo, Adam J. Trower, Chiara Menin, Jacobo Martinez, Andreas Hadjisavvas, Lei Song, Irene Stefanaki, Richard Scolyer, Rose Yang, Alisa M. Goldstein, Miriam Potrony, Katerina P. Kypreou, L
Publicado en: Nature Genetics, Edición 52/5, 2020, Página(s) 494-504, ISSN 1061-4036
Editor: Nature Publishing Group
DOI: 10.1038/s41588-020-0611-8

Genetic Susceptibility to Systemic Sclerosis in the Greek-Cypriot Population: A Pilot Study

Autores: Paraskevi Chairta, Savvas Psarelis, Kyriaki Michailidou, Christiana Demetriou, Sofia Symeonidou, Paschalis Nicolaou, Kyproula Christodoulou
Publicado en: Genetic Testing and Molecular Biomarkers, Edición 24/5, 2020, Página(s) 309-317, ISSN 1945-0265
Editor: Mary Ann Liebert Inc.
DOI: 10.1089/gtmb.2019.0255

Prospective Risk Assessment of Medicine Shortages in Europe and Israel: Findings and Implications

Autores: Nenad Miljković, Brian Godman, Milena Kovačević, Piera Polidori, Leonidas Tzimis, Torsten Hoppe-Tichy, Marika Saar, Ioan Antofie, Laszlo Horvath, Thomas De Rijdt, Róbert György Vida, Elena Kkolou, David Preece, Biljana Tubić, Joan Peppard, Alicia Martinez, Cristina Garcia Yubero, Ratiba Haddad, Dragana Rajinac, Pavle Zelić, Helena Jenzer, Franci Tartar, Gunda Gitler, Martina Jeske, Michal D
Publicado en: Frontiers in Pharmacology, Edición 11, 2020, ISSN 1663-9812
Editor: Frontiers Media S.A.
DOI: 10.3389/fphar.2020.00357

Sulforaphane and iberin are potent epigenetic modulators of histone acetylation and methylation in malignant melanoma

Autores: Melina Mitsiogianni, Dimitrios T. Trafalis, Rodrigo Franco, Vasilis Zoumpourlis, Aglaia Pappa, Mihalis I. Panayiotidis
Publicado en: European Journal of Nutrition, 2020, ISSN 1436-6207
Editor: Dr. Dietrich Steinkopff Verlag
DOI: 10.1007/s00394-020-02227-y

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

Autores: Melissa A. Munn-Chernoff, Emma C. Johnson, Yi-Ling Chou, Jonathan R.I. Coleman, Laura M. Thornton, Raymond K. Walters, Zeynep Yilmaz, Jessica H. Baker, Christopher Hübel, Scott Gordon, Sarah E. Medland, Hunna J. Watson, Héléna A. Gaspar, Julien Bryois, Anke Hinney, Virpi M. Leppä, Manuel Mattheisen, Stephan Ripke, Shuyang Yao, Paola Giusti-Rodríguez, Ken B. Hanscombe, Roger A.H. Adan, Lars Al
Publicado en: Addiction Biology, 2020, Página(s) e12880, ISSN 1355-6215
Editor: Taylor & Francis
DOI: 10.1111/adb.12880

Assessment of interactions between 205 breast cancer susceptibility loci and 13 established risk factors in relation to breast cancer risk, in the Breast Cancer Association Consortium

Autores: Pooja Middha Kapoor, Sara Lindström, Sabine Behrens, Xiaoliang Wang, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Alison M Dunning, Paul D P Pharoah, Marjanka K Schmidt, Peter Kraft, Montserrat García-Closas, Douglas F Easton, Roger L Milne, Jenny Chang-Claude
Publicado en: International Journal of Epidemiology, Edición 49/1, 2019, Página(s) 216-232, ISSN 0300-5771
Editor: Oxford University Press
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Morvan syndrome: Clinical and serological observations in 29 cases

Autores: Sarosh R. Irani, Philippa Pettingill, Kleopas A. Kleopa, Natasa Schiza, Patrick Waters, Claudio Mazia, Luigi Zuliani, Osamu Watanabe, Bethan Lang, Camilla Buckley, Angela Vincent
Publicado en: Annals of Neurology, Edición 03645134, 2012, Página(s) 241-255, ISSN 0364-5134
Editor: John Wiley & Sons Inc.
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Early treatment with glucocorticoids or cyclophosphamide retains the slit diaphragm proteins nephrin and podocin in experimental lupus nephritis

Autores: D. Moysiadis, G. Perysinaki, G. Bertsias, S. Stratakis, K. Kyriacou, L. Nakopoulou, D. Boumpas, E. Daphnis
Publicado en: Lupus, Edición 09612033, 2012, Página(s) 1196-1207, ISSN 0961-2033
Editor: SAGE Publications
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Proteomic Profiling of Breast Tissue Collagens and Site-specific Characterization of Hydroxyproline Residues of Collagen Alpha-1-(I)

Autores: Helen Montgomery, Nitin Rustogi, Andreas Hadjisavvas, Koichi Tanaka, Kyriacos Kyriacou, Chris W. Sutton
Publicado en: Journal of Proteome Research, Edición 15353893, 2012, Página(s) 121114071755009, ISSN 1535-3893
Editor: American Chemical Society
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Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone

Autores: Stefan Németh, Stefan Riedl, Gernot Kriegshäuser, Sabina Baumgartner-Parzer, Paola Concolino, Vassos Neocleous, Leonidas A. Phylactou, Maryla Borucka-Mankiewicz, Hüseyin Onay, Ajlan Tukun, Christian Oberkanins
Publicado en: Clinica Chimica Acta, Edición 00098981, 2012, Página(s) 211-214, ISSN 0009-8981
Editor: Elsevier BV
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Menarche, menopause, and breast cancer risk: individual participant meta-analysis, including 118 964 women with breast cancer from 117 epidemiological studies

Autores: Collaborative Group on Hormonal Factors in Breast Cancer
Publicado en: The Lancet Oncology, Edición 14702045, 2012, Página(s) 1141-1151, ISSN 1470-2045
Editor: The Lancet Publishing Group
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KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients

Autores: Joseph Borg, Marios Phylactides, Marina Bartsakoulia, Christina Tafrali, Carsten Lederer, Alexander E Felice, Adamantia Papachatzopoulou, Alexandra Kourakli, Eleana F Stavrou, Soteroula Christou, Jun Hou, Sophia Karkabouna, Christina Lappa-Manakou, Zeliha Özgur, Wilfred van IJcken, Marieke von Lindern, Frank G Grosveld, Marianthi Georgitsi, Marina Kleanthous, Sjaak Philipsen, George P Patrinos
Publicado en: Pharmacogenomics, Edición 14622416, 2012, Página(s) 1487-1500, ISSN 1462-2416
Editor: Ashley Publications Ltd.
DOI: 10.2217/pgs.12.125

Use of denaturing gradient gel electrophoresis in screening unknown β-thalassemia mutations in Egyptian patients

Autores: G. Christopoulos, G.M. Ezzat, M. Kleanthous
Publicado en: Egyptian Journal of Medical Human Genetics, Edición 11108630, 2012, Página(s) 343-349, ISSN 1110-8630
Editor: Aim Shams University
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Disruption of oligodendrocyte gap junctions in experimental autoimmune encephalomyelitis

Autores: Kyriaki Markoullis, Irene Sargiannidou, Christopher Gardner, Andreas Hadjisavvas, Richard Reynolds, Kleopas A. Kleopa
Publicado en: Glia, Edición 08941491, 2012, Página(s) 1053-1066, ISSN 0894-1491
Editor: John Wiley & Sons Inc.
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Fingolimod in the treatment algorithm of relapsing remitting multiple sclerosis: a statement of the Central and East European (CEE) MS Expert Group

Autores: Franz Fazekas
Publicado en: Wiener Medizinische Wochenschrift, Edición 00435341, 2012, Página(s) 354-366, ISSN 0043-5341
Editor: Springer Verlag
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How do mutations in GJB1 cause X-linked Charcot–Marie–Tooth disease?

Autores: Kleopas A. Kleopa, Charles K. Abrams, Steven S. Scherer
Publicado en: Brain Research, Edición 00068993, 2012, Página(s) 198-205, ISSN 0006-8993
Editor: Elsevier BV
DOI: 10.1016/j.brainres.2012.03.068

Cationic star polymer siRNA transfectants interconnected with a piperazine-based cationic cross-linker

Autores: Kyriaki S. Pafiti, Costas S. Patrickios, Theoni K. Georgiou, Edna N. Yamasaki, Nikolaos P. Mastroyiannopoulos, Leonidas A. Phylactou
Publicado en: European Polymer Journal, Edición 00143057, 2012, Página(s) 1422-1430, ISSN 0014-3057
Editor: Pergamon Press Ltd.
DOI: 10.1016/j.eurpolymj.2012.05.008

Human variome project country nodes: Documenting genetic information within a country

Autores: George P. Patrinos, Timothy D. Smith, Heather Howard, Fahd Al-Mulla, Lotfi Chouchane, Andreas Hadjisavvas, Sherifa A. Hamed, Xi-Tao Li, Makia Marafie, Rajkumar S. Ramesar, Feliciano J. Ramos, Thomy de Ravel, Mona O. El-Ruby, Tilak Ram Shrestha, María-Jesús Sobrido, Ghazi Tadmouri, Martina Witsch-Baumgartner, Bin Alwi Zilfalil, Arleen D. Auerbach, Kevin Carpenter, Garry R. Cutting, Vu Chi Dung, Wayne Grody, Julia Hasler, Lynn Jorde, Jim Kaput, Milan Macek, Yoichi Matsubara, Carmancita Padilla, Helen Robinson, Augusto Rojas-Martinez, Graham R. Taylor, Mauno Vihinen, Tom Weber, John Burn, Ming Qi, Richard G. H. Cotton, David Rimoin
Publicado en: Human Mutation, Edición 10597794, 2012, Página(s) 1513-1519, ISSN 1059-7794
Editor: John Wiley & Sons Inc.
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Effects of growth hormone on heart structure and function in adolescence

Autores: Meropi Toumba, Vassos Neocleous, Christos Shammas, Antonis Jossif, Nicos Skordis
Publicado en: Georgian Medical News, Edición 210, 2012, Página(s) 34-39, ISSN 1512-0112
Editor: Assotsiatsiia delovoi pressy Gruzii

Genetic defects in the cyp21a2 gene in heterozygous girls with premature adrenarche and adolescent females with hyperandrogenemia

Autores: Vassos Neocleous, Christos Shammas, Alexia A. Phedonos, Evaggelia Karaoli, Andreas Kyriakou, Meropi Toumba, Leonidas A. Phylactou, Nicos Skordis
Publicado en: Georgian Medical News, Edición 210, 2012, Página(s) 40-47, ISSN 1512-0112
Editor: Assotsiatsiia delovoi pressy Gruzii

LB003-MON ORAL NUTRACEUTICAL FORMULA (PLP10) FOR THE TREATMENT OF RELAPSING REMITTING MULTIPLE SCLEROSIS: DOUBLE-BLIND, RANDOMIZED CLINICAL TRIAL

Autores: I.S. Patrikios, M.C. Pantzaris, G.N. Loukaides, E.E. Ntzani
Publicado en: Clinical Nutrition Supplements, Edición 17441161, 2012, Página(s) 266, ISSN 1744-1161
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Segmentation of the Common Carotid Intima-Media Complex in Ultrasound Images Using Active Contours

Autores: S. Petroudi, C. Loizou, M. Pantziaris, C. Pattichis
Publicado en: IEEE Transactions on Biomedical Engineering, Edición 00189294, 2012, Página(s) 3060-3069, ISSN 0018-9294
Editor: Institute of Electrical and Electronics Engineers
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Psychosocial adjustment of epilepsy patients in Cyprus

Autores: Panayiotis Stavrinides, Fofi Constantinidou, Irena Anastassiou, Antri Malikides, Savvas Papacostas
Publicado en: Epilepsy & Behavior, Edición 15255050, 2012, Página(s) 98-104, ISSN 1525-5050
Editor: Academic Press
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Overview of Genetic Defects in Endocrinopathies in the Island of Cyprus; Evidence of a Founder Effect

Autores: Christos Shammas, Vassos Neocleous, Meropi Toumba, Constantina Costi, Alexia A.P. Phedonos, Elisavet Efstathiou, Andreas Kyriakou, Leonidas A. Phylactou, Nicos Skordis
Publicado en: Genetic Testing and Molecular Biomarkers, Edición 19450265, 2012, Página(s) 1073-1079, ISSN 1945-0265
Editor: Mary Ann Liebert Inc.
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A comparison between disposable and reusable single fiber needle electrodes in relation to stimulated single fiber studies

Autores: Eleftherios S. Papathanasiou, Eleni Zamba-Papanicolaou
Publicado en: Clinical Neurophysiology, Edición 13882457, 2012, Página(s) 1437-1439, ISSN 1388-2457
Editor: Elsevier BV
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X-linked Charcot-Marie-Tooth disease

Autores: Steven S. Scherer, Kleopas A. Kleopa
Publicado en: Journal of the Peripheral Nervous System, Edición 10859489, 2012, Página(s) 9-13, ISSN 1085-9489
Editor: Blackwell Publishing Inc.
DOI: 10.1111/j.1529-8027.2012.00424.x

A new method for non-invasive prenatal diagnosis of Down syndrome using MeDIP real time qPCR

Autores: Philippos C. Patsalis
Publicado en: Applied & Translational Genomics, Edición 22120661, 2012, Página(s) 3-8, ISSN 2212-0661
Editor: Elsevier BV
DOI: 10.1016/j.atg.2012.04.001

MeDIP real-time qPCR of maternal peripheral blood reliably identifies trisomy 21

Autores: Evdokia Tsaliki, Elisavet A. Papageorgiou, Christiana Spyrou, George Koumbaris, Elena Kypri, Skevi Kyriakou, Chrysovalanto Sotiriou, Evi Touvana, Anna Keravnou, Alex Karagrigoriou, Klea Lamnissou, Voula Velissariou, Philippos C. Patsalis
Publicado en: Prenatal Diagnosis, Edición 01973851, 2012, Página(s) 996-1001, ISSN 0197-3851
Editor: John Wiley & Sons Inc.
DOI: 10.1002/pd.3947

Investigation of SCA10 in the Cypriot population: Further exclusion of SCA dynamic repeat mutations

Autores: Christina Votsi, Eleni Zamba-Papanicolaou, Anthi Georghiou, Theodoros Kyriakides, Savvas Papacostas, Kleopas A. Kleopa, Marios Pantzaris, Kyproula Christodoulou
Publicado en: Journal of the Neurological Sciences, Edición 0022510X, 2012, Página(s) 154-157, ISSN 0022-510X
Editor: Elsevier BV
DOI: 10.1016/j.jns.2012.09.006

Clinical and molecular description of the prenatal diagnosis of a fetus with a maternally inherited microduplication 22q11.2 of 2.5Mb

Autores: G. Christopoulou, C. Sismani, M. Sakellariou, M. Saklamaki, V. Athanassiou, V. Velissariou
Publicado en: Gene, Edición 03781119, 2013, Página(s) 694-697, ISSN 0378-1119
Editor: Elsevier BV
DOI: 10.1016/j.gene.2013.02.044

BRCA1 and Its Network of Interacting Partners

Autores: Charita Christou, Kyriacos Kyriacou
Publicado en: Biology, Edición 20797737, 2013, Página(s) 40-63, ISSN 2079-7737
Editor: Multidisciplinary Digital Publishing Institute
DOI: 10.3390/biology2010040

Intraperitoneal melatonin is not neuroprotective in the G93ASOD1 transgenic mouse model of familial ALS and may exacerbate neurodegeneration

Autores: Efthimios Dardiotis, Elena Panayiotou, Marianne L. Feldman, Andreas Hadjisavvas, Stavros Malas, Ilia Vonta, Georgios Hadjigeorgiou, Kyriakos Kyriakou, Theodoros Kyriakides
Publicado en: Neuroscience Letters, Edición 03043940, 2013, Página(s) 170-175, ISSN 0304-3940
Editor: Elsevier BV
DOI: 10.1016/j.neulet.2013.05.058

Methylome Analysis and Epigenetic Changes Associated with Menarcheal Age

Autores: Christiana A. Demetriou, Jia Chen, Silvia Polidoro, Karin van Veldhoven, Cyrille Cuenin, Gianluca Campanella, Kevin Brennan, Françoise Clavel-Chapelon, Laure Dossus, Marina Kvaskoff, Dagmar Drogan, Heiner Boeing, Rudolf Kaaks, Angela Risch, Dimitrios Trichopoulos, Pagona Lagiou, Giovanna Masala, Sabina Sieri, Rosario Tumino, Salvatore Panico, J. Ramón Quirós, María-José Sánchez Perez, Pilar Amiano, José María Huerta Castaño, Eva Ardanaz, Charlotte Onland-Moret, Petra Peeters, Kay-Tee Khaw, Nick Wareham, Timothy J. Key, Ruth C. Travis, Isabelle Romieu, Valentina Gallo, Marc Gunter, Zdenko Herceg, Kyriacos Kyriacou, Elio Riboli, James M. Flanagan, Paolo Vineis
Publicado en: PLoS ONE, Edición 19326203, 2013, Página(s) e79391, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0079391

Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature

Autores: Paola Evangelidou, Angelos Alexandrou, Maria Moutafi, Marios Ioannides, Pavlos Antoniou, George Koumbaris, Ioannis Kallikas, Voula Velissariou, Carolina Sismani, Philippos C. Patsalis
Publicado en: BioMed Research International, Edición 23146133, 2013, Página(s) 1-14, ISSN 2314-6133
Editor: Hindawi Publishing Corporation
DOI: 10.1155/2013/346762

How Does Fingolimod (Gilenya®) Fit in the Treatment Algorithm for Highly Active Relapsing-Remitting Multiple Sclerosis?

Autores: Franz Fazekas, Ovidiu Bajenaru, Thomas Berger, Tanja Hojs Fabjan, Alenka Horvat Ledinek, Gábor Jakab, Samuel Komoly, Tetiana Kobys, Jörg Kraus, Egon Kurča, Theodoros Kyriakides, L'ubomír Lisý, Ivan Milanov, Tetyana Nehrych, Sergii Moskovko, Panayiotis Panayiotou, Saša Šega Jazbec, Larysa Sokolova, Radomír Taláb, Latchezar Traykov, Peter Turčáni, Karl Vass, Norbert Vella, Nataliya Voloshyná, Eva Havrdová
Publicado en: Frontiers in Neurology, Edición 16642295, 2013, ISSN 1664-2295
Editor: Frontiers Research Foundation
DOI: 10.3389/fneur.2013.00010

Effect of exercise training and dopamine agonists in patients with uremic restless legs syndrome: a six-month randomized, partially double-blind, placebo-controlled comparative study

Autores: Christoforos D Giannaki, Giorgos K Sakkas, Christina Karatzaferi, Georgios M Hadjigeorgiou, Eleftherios Lavdas, Theodoros Kyriakides, Yiannis Koutedakis, Ioannis Stefanidis
Publicado en: BMC Nephrology, Edición 14712369, 2013, Página(s) 194, ISSN 1471-2369
Editor: BioMed Central
DOI: 10.1186/1471-2369-14-194

Connexin pathology in chronic multiple sclerosis and experimental autoimmune encephalomyelitis

Autores: Kleopas A. Kleopa, Irene Sargiannidou, Kyriaki Markoullis
Publicado en: Clinical and Experimental Neuroimmunology, Edición 17591961, 2013, Página(s) 45-58, ISSN 1759-1961
Editor: John Wiley and Sons Ltd
DOI: 10.1111/cen3.12055

Phylogenetic Patterns of Human Coxsackievirus B5 Arise from Population Dynamics between Two Genogroups and Reveal Evolutionary Factors of Molecular Adaptation and Transmission

Autores: C. Henquell, A. Mirand, J. Richter, I. Schuffenecker, B. Bottiger, S. Diedrich, E. Terletskaia-Ladwig, C. Christodoulou, H. Peigue-Lafeuille, J.-L. Bailly
Publicado en: Journal of Virology, Edición 0022538X, 2013, Página(s) 12249-12259, ISSN 0022-538X
Editor: American Society for Microbiology
DOI: 10.1128/JVI.02075-13

Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH

Autores: Ludmila Kousoulidou, Maria Moutafi, Paola Nicolaides, Stavros Hadjiloizou, Christos Christofi, Anna Paradesiotou, Violetta Anastasiadou, Carolina Sismani, Philippos C. Patsalis
Publicado en: BioMed Research International, Edición 23146133, 2013, Página(s) 1-5, ISSN 2314-6133
Editor: Hindawi Publishing Corporation
DOI: 10.1155/2013/843027

263.4 kb deletion within the TCF4 gene consistent with Pitt–Hopkins syndrome, inherited from a mosaic parent with normal phenotype

Autores: Ludmila Kousoulidou, George Tanteles, Maria Moutafi, Carolina Sismani, Philippos C. Patsalis, Violetta Anastasiadou
Publicado en: European Journal of Medical Genetics, Edición 17697212, 2013, Página(s) 314-318, ISSN 1769-7212
Editor: Elsevier BV
DOI: 10.1016/j.ejmg.2013.03.005

Prevalence of Helicobacter pylori cagA and vacA genes in Cypriot patients

Autores: George Krashias, Stavros Bashiardes, Alexia Potamitou, George S Potamitis, Christina Christodoulou
Publicado en: The Journal of Infection in Developing Countries, Edición 19722680, 2013, ISSN 1972-2680
Editor: Open Learning on Enteric Pathogens
DOI: 10.3855/jidc.2923

Variability of ffDNA in maternal plasma does not prevent correct classification of trisomy 21 using MeDIP-qPCR methodology

Autores: Skevi Kyriakou, Elena Kypri, Christiana Spyrou, Evdokia Tsaliki, Voula Velissariou, Elisavet A. Papageorgiou, Philippos C. Patsalis
Publicado en: Prenatal Diagnosis, Edición 01973851, 2013, Página(s) 650-655, ISSN 0197-3851
Editor: John Wiley & Sons Inc.
DOI: 10.1002/pd.4140

EFNS review on the role of muscle biopsy in the investigation of myalgia

Autores: T. Kyriakides, C. Angelini, J. Schaefer, T. Mongini, G. Siciliano, S. Sacconi, J. Joseph, J. M. Burgunder, L. A. Bindoff, J. Vissing, M. de Visser, D. Hilton-Jones
Publicado en: European Journal of Neurology, Edición 13515101, 2013, Página(s) 997-1005, ISSN 1351-5101
Editor: Blackwell Publishing Inc.
DOI: 10.1111/ene.12174

The Changing Epidemiology of β-Thalassemia in the Greek-Cypriot Population

Autores: Andreani R. Kyrri, Eleni Kalogerou, Dena Loizidou, Christina Ioannou, Christina Makariou, Loukas Kythreotis, Marios Phylactides, Petros Kountouris, Michael Angastiniotis, Bernadette Modell, Marina Kleanthous
Publicado en: Hemoglobin, Edición 03630269, 2013, Página(s) 435-443, ISSN 0363-0269
Editor: Marcel Dekker Inc.
DOI: 10.3109/03630269.2013.801851

Brain MR image normalization in texture analysis of multiple sclerosis

Autores: Chritos P. Loizou, Marios Pantziaris, Constandinos S. Pattichis, Ioannis Seimenis
Publicado en: Journal of Biomedical Graphics and Computing, Edición 19254016, 2012, Página(s) 20-33, ISSN 1925-4016
Editor: Sciedu Press
DOI: 10.5430/jbgc.v3n1p20

Twist reverses muscle cell differentiation through transcriptional down-regulation of myogenin

Autores: Nikolaos P. Mastroyiannopoulos, Antonis A. Antoniou, Andrie Koutsoulidou, James B. Uney, Leonidas A. Phylactou
Publicado en: Bioscience Reports, Edición 01448463, 2013, Página(s) 903-911, ISSN 0144-8463
Editor: Kluwer Academic Publishers
DOI: 10.1042/BSR20130068

Despeckle Filtering Toolbox for Medical Ultrasound Video

Autores: Christos P. Loizou, Charoula Theofanous, Marios Pantziaris, Takis Kasparis, Paul Christodoulides, Andrew N. Nicolaides, Constantinos S. Pattichis
Publicado en: International Journal of Monitoring and Surveillance Technologies Research, Edición 21667241, 2013, Página(s) 61-79, ISSN 2166-7241
Editor: IGI Global
DOI: 10.4018/ijmstr.2013100106

A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease

Autores: Paschalis Nicolaou, Carlo Cianchetti, Anna Minaidou, Giovanni Marrosu, Eleni Zamba-Papanicolaou, Lefkos Middleton, Kyproula Christodoulou
Publicado en: European Journal of Human Genetics, Edición 10184813, 2012, Página(s) 190-194, ISSN 1018-4813
Editor: Natue Publishing Group
DOI: 10.1038/ejhg.2012.146

Advances in the molecular diagnosis of Charcot-Marie-Tooth disease

Autores: Paschalis Nicolaou, Kyproula Christodoulou
Publicado en: World Journal of Neurology, Edición 22186212, 2013, Página(s) 42-55, ISSN 2218-6212
Editor: Baishideng Publishing Group
DOI: 10.5316/wjn.v3.i3.42

Infection and Cancer: Revaluation of the Hygiene Hypothesis

Autores: K. Oikonomopoulou, D. Brinc, K. Kyriacou, E. P. Diamandis
Publicado en: Clinical Cancer Research, Edición 10780432, 2013, Página(s) 2834-2841, ISSN 1078-0432
Editor: American Association for Cancer Research
DOI: 10.1158/1078-0432.CCR-12-3661

Open-Source Telemedicine Platform for Wireless Medical Video Communication

Autores: A. Panayides, I. Eleftheriou, M. Pantziaris
Publicado en: International Journal of Telemedicine and Applications, Edición 16876415, 2013, Página(s) 1-12, ISSN 1687-6415
Editor: Hindawi Publishing Corporation
DOI: 10.1155/2013/457491

Maternal plasma sequencing: a powerful tool towards fetal whole genome recovery

Autores: Elisavet A Papageorgiou, Philippos C Patsalis
Publicado en: BMC Medicine, Edición 17417015, 2013, Página(s) 56, ISSN 1741-7015
Editor: BioMed Central
DOI: 10.1186/1741-7015-11-56

Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia

Autores: Thessalia Papasavva, Wilfred F J van IJcken, Christel E M Kockx, Mirjam C G N van den Hout, Petros Kountouris, Loukas Kythreotis, Eleni Kalogirou, Frank G Grosveld, Marina Kleanthous
Publicado en: European Journal of Human Genetics, Edición 10184813, 2013, Página(s) 1403-1410, ISSN 1018-4813
Editor: Natue Publishing Group
DOI: 10.1038/ejhg.2013.47

A Minimal Set of SNPs for the Noninvasive Prenatal Diagnosis of β -Thalassaemia

Autores: Thessalia E. Papasavva, Carsten W. Lederer, Jan Traeger-Synodinos, Ariadne Mavrou, Emmanuel Kanavakis, Christiana Ioannou, Christiana Makariou, Marina Kleanthous
Publicado en: Annals of Human Genetics, Edición 00034800, 2013, Página(s) 115-124, ISSN 0003-4800
Editor: Blackwell Publishing Inc.
DOI: 10.1111/ahg.12004

Evaluation of the visual pathway of patients with multiple sclerosis by visual evoked potentials and 3.0 Tesla magnetic resonance imaging: a comparative study.

Autores: Eleftherios S. Papathanasiou, Savvas S. Papacostas, Marios Pantzaris
Publicado en: Multiple Sclerosis Journal, Edición 19/supp 11, 2013, Página(s) 185-194, ISSN 1352-4585
Editor: SAGE Publications

Vestibular evoked myogenic potentials: The fuzzy picture of different stimulation types is beginning to come into focus

Autores: Eleftherios S. Papathanasiou, Savvas S. Papacostas
Publicado en: Clinical Neurophysiology, Edición 13882457, 2013, Página(s) 1926-1927, ISSN 1388-2457
Editor: Elsevier BV
DOI: 10.1016/j.clinph.2013.05.005

Brain white matter lesion classification in multiple sclerosis subjects for the prognosis of future disability

Autores: Christos P. Loizou, Efthyvoulos C. Kyriacou, Ioannis Seimenis, Marios Pantziaris, Styliani Petroudi, Minas Karaolis, Constantinos S. Pattichis
Publicado en: Intelligent Decision Technologies, Edición 18724981, 2013, Página(s) 3-10, ISSN 1872-4981
Editor: IOS Press
DOI: 10.3233/IDT-120147

Identification of Stage-Specific Breast Markers Using Quantitative Proteomics

Autores: Sadr-ul Shaheed, Nitin Rustogi, Andrew Scally, Julie Wilson, Helene Thygesen, Maria A. Loizidou, Andreas Hadjisavvas, Andrew Hanby, Valerie Speirs, Paul Loadman, Richard Linforth, Kyriacos Kyriacou, Chris W. Sutton
Publicado en: Journal of Proteome Research, Edición 15353893, 2013, Página(s) 5696-5708, ISSN 1535-3893
Editor: American Chemical Society
DOI: 10.1021/pr400662k

High carrier frequency of 21-hydroxylase deficiency in Cyprus

Autores: AAP Phedonos, C Shammas, N Skordis, TC Kyriakides, V Neocleous, LA Phylactou
Publicado en: Clinical Genetics, Edición 00099163, 2013, Página(s) 585-588, ISSN 0009-9163
Editor: Blackwell Publishing Inc.
DOI: 10.1111/cge.12153

Newly emerging C group enteroviruses may elude diagnosis due to a divergent 5′-UTR

Autores: Jan Richter, Christina Tryfonos, Christakis Panagiotou, Elpiniki Nikolaou, Maria Koliou, Christina Christodoulou
Publicado en: International Journal of Infectious Diseases, Edición 12019712, 2013, Página(s) e1245-e1248, ISSN 1201-9712
Editor: Elsevier BV
DOI: 10.1016/j.ijid.2013.07.010

A report of 2 new cases of MODY2 and review of the literature: Implications in the search for type 2 Diabetes drugs

Autores: Christos Shammas, Vassos Neocleous, Marie M. Phelan, Lu-Yun Lian, Nicos Skordis, Leonidas A. Phylactou
Publicado en: Metabolism, Edición 00260495, 2013, Página(s) 1535-1542, ISSN 0026-0495
Editor: Elsevier BV
DOI: 10.1016/j.metabol.2013.06.007

Two somali half-siblings with CHST3 -related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability

Autores: George A Tanteles, Abhijit Dixit, Sunil Dhar, Mohnish Suri
Publicado en: American Journal of Medical Genetics Part A, Edición 15524825, 2013, Página(s) n/a-n/a, ISSN 1552-4825
Editor: Wiley-Liss Inc
DOI: 10.1002/ajmg.a.36094

A prenatally ascertained, maternally inherited 14.8Mb duplication of chromosomal bands Xq13.2–q21.31 associated with multiple congenital abnormalities in a male fetus

Autores: C. Sismani, J. Donoghue, A Alexandrou, M. Karkaletsi, S. Christopoulou, A.E. Konstantinidou, P. Livanos, P.C. Patsalis, V. Velissariou
Publicado en: Gene, Edición 03781119, 2013, Página(s) 138-142, ISSN 0378-1119
Editor: Elsevier BV
DOI: 10.1016/j.gene.2013.08.032

A family with Camurati-Engelman disease. The role of the missense p.R218C mutation in TGFB1 in bones and endocrine glands

Autores: Meropi Toumba, Vassos Neocleous, Christos Shammas, Violetta Anastasiadou, Jeremy Allgrove, Leonidas A. Phylactou, Nicos Skordis
Publicado en: Journal of Pediatric Endocrinology and Metabolism, Edición 0334018X, 2013, Página(s) 987-993, ISSN 0334-018X
Editor: Freund Publishing House Ltd.
DOI: 10.1515/jpem-2013-0019

Molecular diagnosis of autosomal recessive cerebellar ataxia in the whole exome/genome sequencing era

Autores: Christina Votsi
Publicado en: World Journal of Neurology, Edición 22186212, 2013, Página(s) 115, ISSN 2218-6212
Editor: Baishideng Publishing Group
DOI: 10.5316/wjn.v3.i4.115

Alterations of juxtaparanodal domains in two rodent models of CNS demyelination

Autores: Lida Zoupi, Kyriaki Markoullis, Kleopas A. Kleopa, Domna Karagogeos
Publicado en: Glia, Edición 08941491, 2013, Página(s) 1236-1249, ISSN 0894-1491
Editor: John Wiley & Sons Inc.
DOI: 10.1002/glia.22511

miR-186 Inhibits Muscle Cell Differentiation through Myogenin Regulation

Autores: Antonis Antoniou, Nikolaos P. Mastroyiannopoulos, James B. Uney, Leonidas A. Phylactou
Publicado en: Journal of Biological Chemistry, Edición 00219258, 2014, Página(s) 3923-3935, ISSN 0021-9258
Editor: American Society for Biochemistry and Molecular Biology Inc.
DOI: 10.1074/jbc.M113.507343

The BRCA1 Variant p.Ser36Tyr Abrogates BRCA1 Protein Function and Potentially Confers a Moderate Risk of Breast Cancer

Autores: Charita M. Christou, Andreas Hadjisavvas, Maria Kyratzi, Christina Flouri, Ioanna Neophytou, Violetta Anastasiadou, Maria A. Loizidou, Kyriacos Kyriacou
Publicado en: PLoS ONE, Edición 19326203, 2014, Página(s) e93400, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0093400

Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach

Autores: Pavlos Fanis, Ioanna Kousiappa, Marios Phylactides, Marina Kleanthous
Publicado en: BMC Genomics, Edición 14712164, 2014, Página(s) 108, ISSN 1471-2164
Editor: BioMed Central
DOI: 10.1186/1471-2164-15-108

The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis

Autores: Theodoros Georgiou, George Christopoulos, Violetta Anastasiadou, Stavros Hadjiloizou, David Cregeen, Marie Jackson, Gavriella Mavrikiou, Marina Kleanthous, Anthi Drousiotou
Publicado en: Meta Gene, Edición 22145400, 2014, Página(s) 200-205, ISSN 2214-5400
Editor: Elsevier BV
DOI: 10.1016/j.mgene.2014.01.007

Epidemiology, impact, and treatment options of restless legs syndrome in end-stage renal disease patients: an evidence-based review

Autores: Christoforos D. Giannaki, Georgios M. Hadjigeorgiou, Christina Karatzaferi, Marios C. Pantzaris, Ioannis Stefanidis, Giorgos K. Sakkas
Publicado en: Kidney International, Edición 00852538, 2014, Página(s) 1275-1282, ISSN 0085-2538
Editor: Blackwell Publishing Inc.
DOI: 10.1038/ki.2013.394

Molecular analysis of Cypriot patients with Glutaric aciduria type I: Identification of two novel mutations

Autores: Theodoros Georgiou, Paola Nicolaidou, Anastasia Hadjichristou, Rodothea Ioannou, Maria Dionysiou, Elli Siama, Georgia Chappa, Violetta Anastasiadou, Anthi Drousiotou
Publicado en: Clinical Biochemistry, Edición 00099120, 2014, Página(s) 1300-1305, ISSN 0009-9120
Editor: Elsevier BV
DOI: 10.1016/j.clinbiochem.2014.06.017

Inter-individual methylation variability in differentially methylated regions between maternal whole blood and first trimester CVS

Autores: Marios Ioannides, Elisavet A Papageorgiou, Anna Keravnou, Evdokia Tsaliki, Christiana Spyrou, Michael Hadjidaniel, Carolina Sismani, George Koumbaris, Philippos C Patsalis
Publicado en: Molecular Cytogenetics, Edición 17558166, 2014, Página(s) 1-8, ISSN 1755-8166
Editor: BioMed Central
DOI: 10.1186/s13039-014-0073-8

Acute hepatitis and myositis associated with Erythema infectiosum by Parvovirus B19 in an adolescent

Autores: Maria Koliou, Evaggelia Karaoli, Elpidoforos S Soteriades, Sylvie Pavlides, Stavros Bashiardes, Christina Christodoulou
Publicado en: BMC Pediatrics, Edición 14712431, 2014, Página(s) 6, ISSN 1471-2431
Editor: BioMed Central
DOI: 10.1186/1471-2431-14-6

Gene delivery targeted to oligodendrocytes using a lentiviral vector

Autores: Alexia Kagiava, Irene Sargiannidou, Stavros Bashiardes, Jan Richter, Natasa Schiza, Christina Christodoulou, Angela Gritti, Kleopas A. Kleopa
Publicado en: The Journal of Gene Medicine, Edición 1099498X, 2014, Página(s) 364-373, ISSN 1099-498X
Editor: John Wiley & Sons Inc.
DOI: 10.1002/jgm.2813

Friedreich's ataxia and other hereditary ataxias in Greece: An 18-year perspective

Autores: Georgios Koutsis, Athina Kladi, Georgia Karadima, Henry Houlden, Nicholas W. Wood, Kyproula Christodoulou, Marios Panas
Publicado en: Journal of the Neurological Sciences, Edición 0022510X, 2014, Página(s) 87-92, ISSN 0022-510X
Editor: Elsevier BV
DOI: 10.1016/j.jns.2013.10.012

IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology

Autores: Petros Kountouris, Carsten W. Lederer, Pavlos Fanis, Xenia Feleki, John Old, Marina Kleanthous
Publicado en: PLoS ONE, Edición 19326203, 2014, Página(s) e103020, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0103020

A study of hereditary ataxias in the Greek population

Autores: Georgios Koutsis, Athina Kladi, Georgia Karadima, Henry Houlden, Nicholas W. Wood, Kyproula Christodoulou, Marios Panas
Publicado en: Archives of Hellenic Medicine (Greek), Edición 31/4, 2014, Página(s) 433-445, ISSN 11-05-3992
Editor: The Athens Medical Society

The nucleotide-binding proteins Nubp1 and Nubp2 are negative regulators of ciliogenesis

Autores: Elena Kypri, Andri Christodoulou, Giannis Maimaris, Mette Lethan, Maria Markaki, Costas Lysandrou, Carsten W. Lederer, Nektarios Tavernarakis, Stefan Geimer, Lotte B. Pedersen, Niovi Santama
Publicado en: Cellular and Molecular Life Sciences, Edición 1420682X, 2014, Página(s) 517-538, ISSN 1420-682X
Editor: Birkhauser Verlag
DOI: 10.1007/s00018-013-1401-6

Hb Famagusta—analysis of a novel δ-globin chain variant [HBD:c.60C>A] in four families with diverse globin genotypes

Autores: Carsten W. Lederer, Eleni Pavlou, Christiana Makariou, Georgia Hadjilambi, Nicoletta Andreou, Michael Hadjigavriel, Annita Kolnagou, Maria Sitarou, Soteroulla Christou, Marina Kleanthous
Publicado en: Annals of Hematology, Edición 09395555, 2014, Página(s) 1625-1627, ISSN 0939-5555
Editor: Springer Verlag
DOI: 10.1007/s00277-013-1996-6

The Mutational Spectrum of Lynch Syndrome in Cyprus

Autores: Maria A. Loizidou, Ioanna Neophytou, Demetris Papamichael, Panteleimon Kountourakis, Vassilios Vassiliou, Yiola Marcou, Eleni Kakouri, Georgios Ioannidis, Chrystalla Philippou, Elena Spanou, George A. Tanteles, Violetta Anastasiadou, Andreas Hadjisavvas, Kyriacos Kyriacou
Publicado en: PLoS ONE, Edición 19326203, 2014, Página(s) e105501, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0105501

Oligodendrocyte Gap Junction Loss and Disconnection From Reactive Astrocytes in Multiple Sclerosis Gray Matter

Autores: Kyriaki Markoullis, Irene Sargiannidou, Natasa Schiza, Federico Roncaroli, Richard Reynolds, Kleopas A. Kleopa
Publicado en: Journal of Neuropathology & Experimental Neurology, Edición 00223069, 2014, Página(s) 865-879, ISSN 0022-3069
Editor: American Association of Neuropathologists, Inc.
DOI: 10.1097/NEN.0000000000000106

Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects

Autores: Vassos Neocleous, Constantina Costi, Christos Shammas, Elena Spanou, Violetta Anastasiadou, George A. Tanteles, Leonidas A. Phylactou
Publicado en: Journal of Genetics, Edición 93/2, 2014, Página(s) 471-476, ISSN 0022-1333
Editor: Indian Academy of Sciences

Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations

Autores: Vassos Neocleous, Christos Shammas, AlexiaAP Phedonos, LeonidasA Phylactou, Nicos Skordis
Publicado en: Indian Journal of Endocrinology and Metabolism, Edición 22308210, 2014, Página(s) 72, ISSN 2230-8210
Editor: Wolters Kluwer
DOI: 10.4103/2230-8210.145077

Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11

Autores: Vassos Neocleous, Panayiotis K. Yiallouros, George A. Tanteles, Constantina Costi, Maria Moutafi, Phivos Ioannou, Philippos C. Patsalis, Carolina Sismani, Leonidas A. Phylactou
Publicado en: Case Reports in Genetics, Edición 20906544, 2014, Página(s) 1-4, ISSN 2090-6544
Editor: Hindawi Publishing Corporation
DOI: 10.1155/2014/613863

Molecular epidemiology of influenza A virus infection in Cyprus in four consecutive seasons (2009 pandemic–2013)

Autores: C. PANAYIOTOU, J. RICHTER, S. BASHIARDES, D. KOPTIDES, C. TRYFONOS, C. CHRISTODOULOU
Publicado en: Epidemiology and Infection, Edición 09502688, 2014, Página(s) 975-983, ISSN 0950-2688
Editor: Cambridge University Press
DOI: 10.1017/S0950268813002689

Epidemiology of respiratory syncytial virus in children in Cyprus during three consecutive winter seasons (2010–2013): age distribution, seasonality and association between prevalent genotypes and disease severity

Autores: C. PANAYIOTOU, J. RICHTER, M. KOLIOU, N. KALOGIROU, E. GEORGIOU, C. CHRISTODOULOU
Publicado en: Epidemiology and Infection, Edición 09502688, 2014, Página(s) 2406-2411, ISSN 0950-2688
Editor: Cambridge University Press
DOI: 10.1017/S0950268814000028

The bifacial role of helminths in cancer: Involvement of immune and non-immune mechanisms

Autores: Katerina Oikonomopoulou, Davor Brinc, Andreas Hadjisavvas, Georgios Christofi, Kyriacos Kyriacou, Eleftherios P. Diamandis
Publicado en: Critical Reviews in Clinical Laboratory Sciences, Edición 10408363, 2014, Página(s) 138-148, ISSN 1040-8363
Editor: Taylor & Francis
DOI: 10.3109/10408363.2014.886180

Pharmacoresistant partial-onset epilepsy misdiagnosed as panic disorder: a case report

Autores: Savvas S. Papacostas, Panayiota Myrianthopoulou, Stelios Georgiades, Eleftherios S. Papathanasiou
Publicado en: Psychiatriki, Edición 25/3, 2014, Página(s) 217-221, ISSN 1105-2333
Editor: Hellenike Psychiatrike Hetaireia

Factors associated with quality of life among family members of patients with dementia in Cyprus

Autores: Evridiki Papastavrou, Panayiota Andreou, Nicos Middleton, Savvas Papacostas, Irini Kyriacou Georgiou
Publicado en: International Psychogeriatrics, Edición 10416102, 2014, Página(s) 443-452, ISSN 1041-6102
Editor: Cambridge University Press
DOI: 10.1017/S104161021300224X

Cervical Vestibular Evoked Myogenic Potentials in Cerebellar Lesions

Autores: Savvas S. Papacostas, Eleftherios Stelios Papathanasiou, Theodoros Kyriakides, Marios Pantzaris
Publicado en: Otology & Neurotology, Edición 15317129, 2014, Página(s) 1633-1637, ISSN 1531-7129
Editor: Lippincott Williams & Wilkins Ltd.
DOI: 10.1097/MAO.0000000000000462

The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis

Autores: Elisavet Papageorgiou, George Koumbaris, Elena Kypri, Michael Hadjidaniel, Philippos Patsalis
Publicado en: Genes, Edición 20734425, 2014, Página(s) 310-329, ISSN 2073-4425
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes5020310

The exhaustibility of Lambert-Eaton myasthenic syndrome

Autores: Eleftherios S. Papathanasiou, Eleni Zamba-Papanicolaou
Publicado en: Clinical Neurophysiology, Edición 13882457, 2014, Página(s) 220, ISSN 1388-2457
Editor: Elsevier BV
DOI: 10.1016/j.clinph.2013.09.022

The role of ubiquitin-binding domains in human pathophysiology

Autores: Kleitos Sokratous, Andreas Hadjisavvas, Eleftherios P. Diamandis, Kyriacos Kyriacou
Publicado en: Critical Reviews in Clinical Laboratory Sciences, Edición 10408363, 2014, Página(s) 280-290, ISSN 1040-8363
Editor: Taylor & Francis
DOI: 10.3109/10408363.2014.915287

A Novel GBA2 Gene Missense Mutation in Spastic Ataxia

Autores: Christina Votsi, Eleni Zamba-Papanicolaou, Lefkos T. Middleton, Marios Pantzaris, Kyproula Christodoulou
Publicado en: Annals of Human Genetics, Edición 00034800, 2014, Página(s) 13-22, ISSN 0003-4800
Editor: Blackwell Publishing Inc.
DOI: 10.1111/ahg.12045

Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family

Autores: George A. Tanteles, Elena Spanou-Aristidou, Chloe Antoniou, Violetta Christophidou-Anastasiadou, Kleopas A. Kleopa
Publicado en: Journal of the Neurological Sciences, Edición 0022510X, 2014, Página(s) 233-236, ISSN 0022-510X
Editor: Elsevier BV
DOI: 10.1016/j.jns.2014.03.001

Ocular phenotype of Mowat–Wilson syndrome in the first reported Cypriot patients

Autores: George A. Tanteles, Violetta Christophidou-Anastasiadou
Publicado en: Clinical Dysmorphology, Edición 09628827, 2014, Página(s) 20-23, ISSN 0962-8827
Editor: Lippincott Williams and Wilkins
DOI: 10.1097/MCD.0000000000000013

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X)

Autores: M.J. Basehore, R. Michaelson-Cohen, E. Levy-Lahad, C. Sismani, L.M. Bird, M.J. Friez, T. Walsh, F. Abidi, L. Holloway, C. Skinner, S. McGee, A. Alexandrou, M. Syrrou, P.C. Patsalis, G. Raymond, T. Wang, C.E. Schwartz, M.-C. King, R.E. Stevenson
Publicado en: Clinical Genetics, Edición 00099163, 2015, Página(s) 461-466, ISSN 0009-9163
Editor: Blackwell Publishing Inc.
DOI: 10.1111/cge.12420

A comprehensive analysis of the epidemiology and clinical characteristics of anti-LRP4 in myasthenia gravis

Autores: P. Zisimopoulou, P. Evangelakou, J. Tzartos, K. Lazaridis, V. Zouvelou, R. Mantegazza, C. Antozzi, F. Andreetta, A. Evoli, F. Deymeer, G. Saruhan-Direskeneli, H. Durmus, T. Brenner, A. Vaknin, S. Berrih-Aknin, M. Frenkian Cuvelier, T. Stojkovic, M. DeBaets, M. Losen, P. Martinez-Martinez, K.A. Kleopa, E. Zamba-Papanicolaou, T. Kyriakides, A. Kostera-Pruszczyk, P. Szczudlik, B. Szyluk, D. Lavrnic, I. Basta, S. Peric, C. Tallaksen, A. Maniaol, S.J. Tzartos
Publicado en: Journal of Autoimmunity, Edición 08968411, 2014, Página(s) 139-145, ISSN 0896-8411
Editor: Academic Press
DOI: 10.1016/j.jaut.2013.12.004

Biological embedding of early-life exposures and disease risk in humans: a role for DNA methylation

Autores: Christiana A. Demetriou, Karin van Veldhoven, Caroline Relton, Silvia Stringhini, Kyriacos Kyriacou, Paolo Vineis
Publicado en: European Journal of Clinical Investigation, Edición 00142972, 2015, Página(s) 303-332, ISSN 0014-2972
Editor: Blackwell Publishing Inc.
DOI: 10.1111/eci.12406

Recent trends in the gene therapy of β-thalassemia

Autores: Roberto Gambari, Alessia Finotti, Laura Breda, Carsten Lederer, Nicoletta Bianchi, Cristina Zuccato, Marina Klenathous, Stefano Rivella
Publicado en: Journal of Blood Medicine, Edición 11792736, 2015, Página(s) 69, ISSN 1179-2736
Editor: Dove Press
DOI: 10.2147/JBM.S46256

Oxaliplatin-induced neurotoxicity is mediated through gap junction channels and hemichannels and can be prevented by octanol

Autores: Alexia Kagiava, George Theophilidis, Irene Sargiannidou, Kyriacos Kyriacou, Kleopas A. Kleopa
Publicado en: Neuropharmacology, Edición 00283908, 2015, Página(s) 289-305, ISSN 0028-3908
Editor: Pergamon Press Ltd.
DOI: 10.1016/j.neuropharm.2015.05.021

Single-nucleotide polymorphisms in one-carbon metabolism genes, Mediterranean diet and breast cancer risk: a case–control study in the Greek-Cypriot female population

Autores: Maria G. Kakkoura, Christiana A. Demetriou, Maria A. Loizidou, Giorgos Loucaides, Ioanna Neophytou, Yiola Marcou, Andreas Hadjisavvas, Kyriacos Kyriacou
Publicado en: Genes & Nutrition, Edición 15558932, 2015, Página(s) 453, ISSN 1555-8932
Editor: New Century Health Publishers
DOI: 10.1007/s12263-015-0453-7

Molecular Basis of  -Thalassemia in Qatari Pediatric Population

Autores: M. Kamal, R. Badii, S. Abu Sariya, A. Abu-Dayya, M. Kleanthous, A. Amer, H. Abdulrahman
Publicado en: PEDIATRICS, Edición 00314005, 2015, Página(s) S18-S19, ISSN 0031-4005
Editor: American Academy of Pediatrics
DOI: 10.1542/peds.2014-3330II

Plerixafor+G-CSF-mobilized CD34+ cells represent an optimal graft source for thalassemia gene therapy

Autores: G. Karponi, N. Psatha, C. W. Lederer, J. E. Adair, F. Zervou, N. Zogas, M. Kleanthous, C. Tsatalas, A. Anagnostopoulos, M. Sadelain, I. Riviere, G. Stamatoyannopoulos, E. Yannaki
Publicado en: Blood, Edición 00064971, 2015, Página(s) 616-619, ISSN 0006-4971
Editor: American Society of Hematology
DOI: 10.1182/blood-2015-03-629618

Differential modulation of the juxtaparanodal complex in Multiple Sclerosis

Autores: Maria E. Kastriti, Irene Sargiannidou, Kleopas A. Kleopa, Domna Karagogeos
Publicado en: Molecular and Cellular Neuroscience, Edición 10447431, 2015, Página(s) 93-103, ISSN 1044-7431
Editor: Academic Press
DOI: 10.1016/j.mcn.2015.06.005

Dysbetalipoproteinemia: Two cases report and a diagnostic algorithm

Autores: Anastazia Kei
Publicado en: World Journal of Clinical Cases, Edición 23078960, 2015, Página(s) 371, ISSN 2307-8960
Editor: Baishideng Publishing Group
DOI: 10.12998/wjcc.v3.i4.371

Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities

Autores: Costas Koufaris, Gregoris Papagregoriou, Ludmila Kousoulidou, Maria Moutafi, Maithé Tauber, Béatrice Jouret, Isabelle Kieffer, Constantinos Deltas, George A. Tanteles, Violetta Anastasiadou, Philippos C. Patsalis, Carolina Sismani
Publicado en: Gene, Edición 03781119, 2015, Página(s) 95-100, ISSN 0378-1119
Editor: Elsevier BV
DOI: 10.1016/j.gene.2015.02.018

Connexins, gap junctions and peripheral neuropathy

Autores: Kleopas A. Kleopa, Irene Sargiannidou
Publicado en: Neuroscience Letters, Edición 03043940, 2015, Página(s) 27-32, ISSN 0304-3940
Editor: Elsevier BV
DOI: 10.1016/j.neulet.2014.10.033

Familial Mediterranean Fever Associated with MEFV Mutations in a Large Cohort of Cypriot Patients

Autores: Vassos Neocleous, Constantina Costi, Christina Kyriakou, Tassos C Kyriakides, Christos Shammas, Nicos Skordis, Meropi Toumba, Sophia Kyriakou, Maria Koliou, Marianna Kousparou, Margarita Onoufriou, Adamos Hadjipanayis, Michalis Iasonides, Vick N Atamyan, Alkis Pierides, Violetta Christophidou-Anastasiadou, George A Tanteles, Leonidas A Phylactou
Publicado en: Annals of Human Genetics, Edición 00034800, 2015, Página(s) 20-27, ISSN 0003-4800
Editor: Blackwell Publishing Inc.
DOI: 10.1111/ahg.12087

Elevated Muscle-Specific miRNAs in Serum of Myotonic Dystrophy Patients Relate to Muscle Disease Progress

Autores: Andrie Koutsoulidou, Tassos C. Kyriakides, George K. Papadimas, Yiolanda Christou, Evangelia Kararizou, Eleni Zamba Papanicolaou, Leonidas A. Phylactou
Publicado en: PLOS ONE, Edición 19326203, 2015, Página(s) e0125341, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0125341

Modulation of the Genome and Epigenome of Individuals Susceptible to Autism by Environmental Risk Factors

Autores: Costas Koufaris, Carolina Sismani
Publicado en: International Journal of Molecular Sciences, Edición 14220067, 2015, Página(s) 8699-8718, ISSN 1422-0067
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms16048699

Status epilepticus developing during lacosamide monotherapy

Autores: S. S. Papacostas
Publicado en: Case Reports, Edición 1757790X, 2015, Página(s) bcr2014206354-bcr2014206354, ISSN 1757-790X
Editor: BMJ Publishing Group
DOI: 10.1136/bcr-2014-206354

MicroRNA responses to environmental liver carcinogens: Biological and clinical significance

Autores: Vicky Nicolaidou, Costas Koufaris
Publicado en: Clinica Chimica Acta, Edición 00098981, 2015, Página(s) 25-33, ISSN 0009-8981
Editor: Elsevier BV
DOI: 10.1016/j.cca.2015.03.006

Minimally symptomatic mcardle disease, expanding the genotype-phenotype spectrum

Autores: Petros Petrou, Marios Pantzaris, Maria Dionysiou, Anthi Drousiotou, Theodoros Kyriakides
Publicado en: Muscle & Nerve, Edición 0148639X, 2015, Página(s) 891-895, ISSN 0148-639X
Editor: John Wiley & Sons Inc.
DOI: 10.1002/mus.24716

Molecular epidemiology of rhinoviruses in Cyprus over three consecutive seasons

Autores: J. RICHTER, E. NIKOLAOU, C. PANAYIOTOU, C. TRYFONOS, M. KOLIOU, C. CHRISTODOULOU
Publicado en: Epidemiology and Infection, Edición 09502688, 2015, Página(s) 1876-1883, ISSN 0950-2688
Editor: Cambridge University Press
DOI: 10.1017/S0950268814002933

Intraneural GJB 1 gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease

Autores: Irene Sargiannidou, Alexia Kagiava, Stavros Bashiardes, Jan Richter, Christina Christodoulou, Steven S. Scherer, Kleopas A. Kleopa
Publicado en: Annals of Neurology, Edición 03645134, 2015, Página(s) 303-316, ISSN 0364-5134
Editor: John Wiley & Sons Inc.
DOI: 10.1002/ana.24441

A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32

Autores: Irene Sargiannidou, Gun-Ha Kim, Styliana Kyriakoudi, Baik-Lin Eun, Kleopas A. Kleopa
Publicado en: neurogenetics, Edición 13646745, 2015, Página(s) 193-200, ISSN 1364-6745
Editor: Springer Verlag
DOI: 10.1007/s10048-015-0442-4

A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus

Autores: Carolina Sismani, Georgia Christopoulou, Angelos Alexandrou, Paola Evangelidou, Jacqueline Donoghue, Anastasia E. Konstantinidou, Voula Velissariou
Publicado en: Case Reports in Genetics, Edición 20906544, 2015, Página(s) 1-6, ISSN 2090-6544
Editor: Hindawi Publishing Corporation
DOI: 10.1155/2015/517678

Transgenic replacement of Cx32 in gap junction-deficient oligodendrocytes rescues the phenotype of a hypomyelinating leukodystrophy model

Autores: N. Schiza, I. Sargiannidou, A. Kagiava, C. Karaiskos, M. Nearchou, K. A. Kleopa
Publicado en: Human Molecular Genetics, Edición 09646906, 2015, Página(s) 2049-2064, ISSN 0964-6906
Editor: Oxford University Press
DOI: 10.1093/hmg/ddu725

Effects of treatment with androgen receptor ligands on microRNA expression of prostate cancer cells

Autores: Corrinne V. Segal, Costas Koufaris, Chris Powell, Nigel J. Gooderham
Publicado en: Toxicology, Edición 0300483X, 2015, Página(s) 45-52, ISSN 0300-483X
Editor: Elsevier BV
DOI: 10.1016/j.tox.2015.04.002

Genetic defects of the CYP21A2 gene in girls with premature adrenarche

Autores: N. Skordis, C. Shammas, A. A. P. Phedonos, A. Kyriakou, M. Toumba, V. Neocleous, L. A. Phylactou
Publicado en: Journal of Endocrinological Investigation, Edición 17208386, 2015, Página(s) 535-539, ISSN 1720-8386
Editor: Springer
DOI: 10.1007/s40618-014-0223-1

Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: Review of the literature

Autores: George A. Tanteles, Angelos Alexandrou, Paola Evangelidou, Marina Gavatha, Violetta Anastasiadou, Carolina Sismani
Publicado en: American Journal of Medical Genetics Part A, Edición 15524825, 2015, Página(s) 664-669, ISSN 1552-4825
Editor: Wiley-Liss Inc
DOI: 10.1002/ajmg.a.36945

Novel GLI3 mutation in a Greek–Cypriot patient with Greig cephalopolysyndactyly syndrome

Autores: George A. Tanteles, Sofia Michaelidou, Eleni Loukianou, Violetta Christophidou-Anastasiadou, Kleopas A. Kleopa
Publicado en: Clinical Dysmorphology, Edición 09628827, 2015, Página(s) 102-105, ISSN 0962-8827
Editor: Lippincott Williams and Wilkins
DOI: 10.1097/MCD.0000000000000074

Genetic findings of Cypriot spinal muscular atrophy patients

Autores: L. Theodorou, P. Nicolaou, P. Koutsou, A. Georghiou, V. Anastasiadou, G. Tanteles, T. Kyriakides, E. Zamba-Papanicolaou, K. Christodoulou
Publicado en: Neurological Sciences, Edición 15901874, 2015, Página(s) 1829-1834, ISSN 1590-1874
Editor: Springer Verlag
DOI: 10.1007/s10072-015-2263-5

Connexin43 and connexin47 alterations after neural precursor cells transplantation in experimental autoimmune encephalomyelitis

Autores: Paschalis Theotokis, Kleopas A. Kleopa, Olga Touloumi, Roza Lagoudaki, Athanasios Lourbopoulos, Evangelia Nousiopoulou, Evangelia Kesidou, Kyriaki-Nepheli Poulatsidou, Efthimios Dardiotis, Georgios Hadjigeorgiou, Dimitris Karacostas, Carmen Cifuentes-Diaz, Theano Irinopoulou, Nikolaos Grigoriadis
Publicado en: Glia, Edición 08941491, 2015, Página(s) 1772-1783, ISSN 0894-1491
Editor: John Wiley & Sons Inc.
DOI: 10.1002/glia.22843

MuSK autoantibodies in myasthenia gravis detected by cell based assay — A multinational study

Autores: A.I. Tsonis, P. Zisimopoulou, K. Lazaridis, J. Tzartos, E. Matsigkou, V. Zouvelou, R. Mantegazza, C. Antozzi, F. Andreetta, A. Evoli, F. Deymeer, G. Saruhan-Direskeneli, H. Durmus, T. Brenner, A. Vaknin, S. Berrih-Aknin, A. Behin, T. Sharshar, M. De Baets, M. Losen, P. Martinez-Martinez, K.A. Kleopa, E. Zamba-Papanicolaou, T. Kyriakides, A. Kostera-Pruszczyk, P. Szczudlik, B. Szyluk, D. Lavrnic, I. Basta, S. Peric, C. Tallaksen, A. Maniaol, C. Casasnovas Pons, J. Pitha, M. Jakubíkova, F. Hanisch, S.J. Tzartos
Publicado en: Journal of Neuroimmunology, Edición 01655728, 2015, Página(s) 10-17, ISSN 0165-5728
Editor: Elsevier BV
DOI: 10.1016/j.jneuroim.2015.04.015

Internal validation of the QIAamp DNA Investigator Kit, QIAamp 96 DNA Swab BioRobot Kit and the BioRobot Universal System for DNA extraction from reference and crime scene samples

Autores: Stavroulla Xenophontos, Vasilis Christofi, George Iosif, Pavlos Polycarpou, Panayiotis Manoli, Nafsika Demetriou, Marios A. Cariolou
Publicado en: Forensic Science International: Genetics, Edición 18724973, 2015, Página(s) e8-e10, ISSN 1872-4973
Editor: Elsevier BV
DOI: 10.1016/j.fsigen.2014.10.020

Clinical features of primary ciliary dyskinesia in Cyprus with emphasis on lobectomized patients

Autores: Panayiotis K. Yiallouros, Panayiotis Kouis, Nicos Middleton, Marianna Nearchou, Tonia Adamidi, Andreas Georgiou, Adonis Eleftheriou, Phivos Ioannou, Andreas Hadjisavvas, Kyriacos Kyriacou
Publicado en: Respiratory Medicine, Edición 09546111, 2015, Página(s) 347-356, ISSN 0954-6111
Editor: W. B. Saunders Co., Ltd.
DOI: 10.1016/j.rmed.2015.01.015

Computational Drug Repurposing for Neurodegenerative Diseases

Autores: Kyriaki Savva, Margarita Zachariou, Anastasis Oulas, George Minadakis, Kleitos Socratous, Nikolas Dietis and George M. Spyrou
Publicado en: 2019
Editor: Elselvier S&T Book Series

An application of computational drug repurposing based on transcriptomic signatures

Autores: E. Karatzas, G. Kolios and G. M. Spyrou
Publicado en: Computational Methods for Drug Repurposing, 2019
Editor: Springer Methods in Molecular Biology Series

Detecting and targeting RNA: Biomarkers and therapy for Myotonic Dystrophy

Autores: Nikolaos P. Mastroyiannopoulos, Andrie Koutsoulidou and Leonidas A. Phylactou
Publicado en: 2015
Editor: Nova Science, Inc

Intrathecal Delivery of Viral Vectors for Gene Therapy

Autores: Alexia Kagiava, Kleopas A. Kleopa
Publicado en: Myelin - Methods and Protocols, Edición 1791, 2018, Página(s) 277-285, ISBN 978-1-4939-7861-8
Editor: Springer New York
DOI: 10.1007/978-1-4939-7862-5_22

Meta-Analysis of Common and Rare Variants

Autores: Kyriaki Michailidou
Publicado en: Genetic Epidemiology, Edición 1793, 2018, Página(s) 73-88, ISBN 978-1-4939-7867-0
Editor: Springer New York
DOI: 10.1007/978-1-4939-7868-7_6

A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities

Autores: Rena Papachristoforou, Petros P. Petrou, Hilary Sawyer, Maggie Williams, Anthi Drousiotou
Publicado en: JIMD Reports - Volume 12, 2014, Página(s) 91-98, ISBN 978-3-319-03461-4
Editor: Springer International Publishing
DOI: 10.1007/8904_2013_249

Genomic Arrayis in Prenatal Diagnosis

Autores: Paola Evangelidou, Carolina Sismani
Publicado en: 2017
Editor: John Wiley & Sons, Ltd

Periodicity in functional brain networks: Application to scalp EEG from epilepsy patients

Autores: Manolis Christodoulakis, Avgis Hadjipapas, Eleftherios S. Papathanasiou, Maria Anastasiadou, Savvas S. Papacostas, Georgios D. Mitsis
Publicado en: 2014 36th Annual International Conference of the IEEE Engineering in Medicine and Biology Society, 2014, Página(s) 2805-2808, ISBN 978-1-4244-7929-0
Editor: IEEE
DOI: 10.1109/EMBC.2014.6944206

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