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CORDIS - Résultats de la recherche de l’UE
CORDIS

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

Livrables

Publications

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

Auteurs: Efthimios Dardiotis, Elena Panayiotou, Antonios Provatas, Kyproula Christodoulou, Andreas Hadjisavvas, Athos Antoniades, Athanasios Lourbopoulos, Marios Pantzaris, Nikolaos Grigoriadis, Georgios M. Hadjigeorgiou, Theodoros Kyriakides
Publié dans: Neurology - Neuroimmunology Neuroinflammation, Numéro 4/4, 2017, Page(s) e350, ISSN 2332-7812
Éditeur: Wolters Kluwer
DOI: 10.1212/NXI.0000000000000350

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

Auteurs: Margarita Zachariou, George Minadakis, Anastasis Oulas, Sotiroula Afxenti, George M. Spyrou
Publié dans: Journal of Proteomics, 2018, ISSN 1874-3919
Éditeur: Elsevier BV
DOI: 10.1016/j.jprot.2018.03.009

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

Auteurs: Anastasis Oulas, George Minadakis, Margarita Zachariou, Kleitos Sokratous, Marilena M Bourdakou, George M Spyrou
Publié dans: Briefings in Bioinformatics, 2017, ISSN 1467-5463
Éditeur: Oxford University Press
DOI: 10.1093/bib/bbx151

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

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

PathwayConnector: finding complementary pathways to enhance functional analysis

Auteurs: George Minadakis, Margarita Zachariou, Anastasis Oulas, George M Spyrou
Publié dans: Bioinformatics, 2018, ISSN 1367-4803
Éditeur: Oxford University Press
DOI: 10.1093/bioinformatics/bty693

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

Auteurs: 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
Publié dans: Cell Death & Disease, Numéro 9/7, 2018, ISSN 2041-4889
Éditeur: 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

Auteurs: T. Georgiou, E. Prokopiou, P. Kolovos, M. Kalogerou, A. Neokleous, O. Nicolaou, K. Sokratous, K. Kyriacou
Publié dans: Acta Ophthalmologica, Numéro 95, 2017, ISSN 1755-375X
Éditeur: Wiley-Blackwell
DOI: 10.1111/j.1755-3768.2017.01181

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

Auteurs: Nikolas Dovrolis, George Kolios, George M Spyrou, Ioanna Maroulakou
Publié dans: Briefings in Bioinformatics, 2017, ISSN 1467-5463
Éditeur: 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

Auteurs: 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
Publié dans: Journal of Clinical Lipidology, Numéro 12/1, 2018, Page(s) 33-43, ISSN 1933-2874
Éditeur: Elsevier BV
DOI: 10.1016/j.jacl.2017.10.019

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

Auteurs: Marilena M. Bourdakou, George M. Spyrou
Publié dans: BMC Systems Biology, Numéro 11/1, 2017, ISSN 1752-0509
Éditeur: BioMed Central
DOI: 10.1186/s12918-017-0473-6

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

Auteurs: E. Karatzas, M. M. Bourdakou, G. Kolios, G. M. Spyrou
Publié dans: Scientific Reports, Numéro 7/1, 2017, ISSN 2045-2322
Éditeur: Nature Publishing Group
DOI: 10.1038/s41598-017-12849-8

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

Auteurs: Nicholas E. Protonotarios, George M. Spyrou, George A. Kastis
Publié dans: Computers in Biology and Medicine, Numéro 85, 2017, Page(s) 43-52, ISSN 0010-4825
Éditeur: 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

Auteurs: Nikolas Dovrolis, George Kolios, George Spyrou, Ioanna Maroulakou
Publié dans: Drug Discovery Today, Numéro 22/5, 2017, Page(s) 805-813, ISSN 1359-6446
Éditeur: 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

Auteurs: Eleni Fella, Kleitos Sokratous, Revekka Papacharalambous, Kyriacos Kyriacou, Joy Phillips, Sam Sanderson, Elena Panayiotou, Theodoros Kyriakides
Publié dans: Frontiers in Molecular Neuroscience, Numéro 10, 2017, ISSN 1662-5099
Éditeur: 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

Auteurs: George A. Tanteles, Elpiniki Nikolaou, Yiolanda Christou, Angelos Alexandrou, Paola Evangelidou, Violetta Christophidou-Anastasiadou, Carolina Sismani, Savvas S. Papacostas
Publié dans: Case Reports in Genetics, Numéro 2015, 2015, Page(s) 1-5, ISSN 2090-6544
Éditeur: 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

Auteurs: Chrysanthia A. Leontiou, Michael D. Hadjidaniel, Petros Mina, Pavlos Antoniou, Marios Ioannides, Philippos C. Patsalis
Publié dans: PLOS ONE, Numéro 10/8, 2015, Page(s) e0135058, ISSN 1932-6203
Éditeur: Public Library of Science
DOI: 10.1371/journal.pone.0135058

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

Auteurs: D. Koutalianos, A. Koutsoulidou, N. P. Mastroyiannopoulos, D. Furling, L. A. Phylactou
Publié dans: Journal of Cell Science, Numéro 128/19, 2015, Page(s) 3631-3645, ISSN 0021-9533
Éditeur: The Company of Biologists Ltd.
DOI: 10.1242/jcs.172288

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

Auteurs: Vassos Neocleous, Christos Shammas, Marie M. Phelan, Stella Nicolaou, Leonidas A. Phylactou, Nicos Skordis
Publié dans: Clinical Endocrinology, Numéro 84/1, 2016, Page(s) 80-84, ISSN 0300-0664
Éditeur: Blackwell Publishing Inc.
DOI: 10.1111/cen.12854

Reversal of dilated cardiomyopathy after glucagonoma excision

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

Sex-specific age association with primary DNA transfer

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

Oxidative stress in β-thalassaemia and sickle cell disease

Auteurs: S. Voskou, M. Aslan, P. Fanis, M. Phylactides, M. Kleanthous
Publié dans: Redox Biology, Numéro 6, 2015, Page(s) 226-239, ISSN 2213-2317
Éditeur: Elsevier BV
DOI: 10.1016/j.redox.2015.07.018

Beta testing: preclinical genome editing in β-globin disorders

Auteurs: Carsten Lederer, Marina Kleanthous
Publié dans: Cell and Gene Therapy Insights, Numéro 1/2, 2015, ISSN 2059-7800
Éditeur: 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

Auteurs: MARIA A. LOIZIDOU, ANDREAS HADJISAVVAS, GEORGE A. TANTELES, ELENA SPANOU-ARISTIDOU, KYRIACOS KYRIACOU, VIOLETTA CHRISTOPHIDOU-ANASTASIADOU
Publié dans: Oncology Letters, Numéro 11/1, 2015, Page(s) 471-473, ISSN 1792-1074
Éditeur: 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

Auteurs: 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
Publié dans: Oncogene, Numéro 35/21, 2016, Page(s) 2766-2776, ISSN 0950-9232
Éditeur: Nature Publishing Group
DOI: 10.1038/onc.2015.333

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

Auteurs: 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
Publié dans: Journal of Genetics, Numéro 94/4, 2015, Page(s) 749-754, ISSN 0022-1333
Éditeur: Indian Academy of Sciences
DOI: 10.1007/s12041-015-0564-3

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

Auteurs: 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
Publié dans: BMC Biology, Numéro 13/1, 2015, ISSN 1741-7007
Éditeur: BioMed Central
DOI: 10.1186/s12915-015-0220-7

Aetiology of Acute Respiratory Tract Infections in Hospitalised Children in Cyprus

Auteurs: Jan Richter, Christakis Panayiotou, Christina Tryfonos, Dana Koptides, Maria Koliou, Nikolas Kalogirou, Eleni Georgiou, Christina Christodoulou
Publié dans: PLOS ONE, Numéro 11/1, 2016, Page(s) e0147041, ISSN 1932-6203
Éditeur: Public Library of Science
DOI: 10.1371/journal.pone.0147041

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

Auteurs: 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
Publié dans: JIMD Reports, 2016, Page(s) 23-31, ISSN 2192-8304
Éditeur: 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

Auteurs: COSTAS KOUFARIS, ANGELOS ALEXANDROU, GEORGE A. TANTELES, VIOLETTA ANASTASIADOU, CAROLINA SISMANI
Publié dans: Biomedical Reports, Numéro 4/2, 2015, Page(s) 215-218, ISSN 2049-9434
Éditeur: Spandidos Publications
DOI: 10.3892/br.2015.559

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

Auteurs: Nikos Konstantinou, Eva Pettemeridou, Ioannis Seimenis, Eleni Eracleous, Savvas S. Papacostas, Andrew C. Papanicolaou, Fofi Constantinidou
Publié dans: Frontiers in Neurology, Numéro 7, 2016, ISSN 1664-2295
Éditeur: Frontiers Research Foundation
DOI: 10.3389/fneur.2016.00029

Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy

Auteurs: Alexia Kagiava, Irene Sargiannidou, George Theophilidis, Christos Karaiskos, Jan Richter, Stavros Bashiardes, Natasa Schiza, Marianna Nearchou, Christina Christodoulou, Steven S. Scherer, Kleopas A. Kleopa
Publié dans: Proceedings of the National Academy of Sciences, Numéro 113/17, 2016, Page(s) E2421-E2429, ISSN 0027-8424
Éditeur: 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

Auteurs: 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
Publié dans: Journal of Medical Genetics, Numéro 53/5, 2016, Page(s) 298-309, ISSN 0022-2593
Éditeur: 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

Auteurs: 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
Publié dans: BMC Research Notes, Numéro 9/1, 2016, ISSN 1756-0500
Éditeur: BioMed Central
DOI: 10.1186/s13104-016-2002-x

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

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

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

Auteurs: 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
Publié dans: Scientific Reports, Numéro 6/1, 2016, ISSN 2045-2322
Éditeur: 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

Auteurs: Costas Koufaris, Suchira Gallage, Tianlai Yang, Chung-Ho Lau, Gabriel N. Valbuena, Hector C. Keun
Publié dans: Journal of Proteome Research, Numéro 15/8, 2016, Page(s) 2618-2625, ISSN 1535-3893
Éditeur: 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

Auteurs: Vassos Neocleous, Christos Shammas, Marie Phelan, Pavlos Fanis, Maria Pantelidou, Nicos Skordis, Christos Mantzoros, Leonidas Phylactou, Meropi Toumba
Publié dans: HORMONES, 2016, ISSN 1109-3099
Éditeur: 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

Auteurs: COSTAS KOUFARIS, ANGELOS ALEXANDROU, IOANNIS PAPAEVRIPIDOU, IOANNA ALEXANDROU, VIOLETTA CHRISTOPHIDOU-ANASTASIADOU, CAROLINA SISMANI
Publié dans: Journal of Genetics, Numéro 95/3, 2016, Page(s) 621-624, ISSN 0022-1333
Éditeur: 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

Auteurs: Margarita Olympiou, Irene Sargiannidou, Kyriaki Markoullis, Christos Karaiskos, Alexia Kagiava, Styliana Kyriakoudi, Charles K. Abrams, Kleopas A. Kleopa
Publié dans: Acta Neuropathologica Communications, Numéro 4/1, 2016, ISSN 2051-5960
Éditeur: 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

Auteurs: 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
Publié dans: Journal of Genetics, Numéro 95/4, 2016, Page(s) 839-845, ISSN 0022-1333
Éditeur: 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

Auteurs: 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
Publié dans: Genetics Research, Numéro 98, 2016, ISSN 1469-5073
Éditeur: Cambridge Core
DOI: 10.1017/S0016672316000136

Evidence of digenic inheritance in autoinflammation-associated genes

Auteurs: VASSOS NEOCLEOUS, STEFANIA BYROU, MEROPI TOUMBA, CONSTANTINA COSTI, CHRISTOS SHAMMAS, CHRISTINA KYRIAKOU, VIOLETTA CHRISTOPHIDOU-ANASTASIADOU, GEORGE A. TANTELES, ADAMOS HADJIPANAYIS, LEONIDAS A. PHYLACTOU
Publié dans: Journal of Genetics, Numéro 95/4, 2016, Page(s) 761-766, ISSN 0022-1333
Éditeur: 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

Auteurs: Panayiotis Kouis, Panayiotis K. Yiallouros, Nicos Middleton, John S. Evans, Kyriacos Kyriacou, Stefania I. Papatheodorou
Publié dans: Pediatric Research, Numéro 81/3, 2017, Page(s) 398-405, ISSN 0031-3998
Éditeur: 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

Auteurs: 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
Publié dans: The American Journal of Human Genetics, Numéro 99/4, 2016, Page(s) 903-911, ISSN 0002-9297
Éditeur: 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

Auteurs: 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
Publié dans: Oncotarget, Numéro 7/49, 2016, ISSN 1949-2553
Éditeur: 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

Auteurs: 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
Publié dans: Scientific Reports, Numéro 6/1, 2016, ISSN 2045-2322
Éditeur: Nature Publishing Group
DOI: 10.1038/srep36874

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

Auteurs: 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
Publié dans: Breast Cancer Research, Numéro 18/1, 2016, ISSN 1465-542X
Éditeur: BioMed Central
DOI: 10.1186/s13058-016-0758-5

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

Auteurs: 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
Publié dans: Genetics in Medicine, Numéro 19/5, 2016, Page(s) 599-603, ISSN 1098-3600
Éditeur: 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

Auteurs: Maria C. Neofytou, Kyriakos Tsangaras, Elena Kypri, Charalambos Loizides, Marios Ioannides, Achilleas Achilleos, Petros Mina, Anna Keravnou, Carolina Sismani, George Koumbaris, Philippos C. Patsalis
Publié dans: PLOS ONE, Numéro 12/2, 2017, Page(s) e0171319, ISSN 1932-6203
Éditeur: 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

Auteurs: Constantia Aristidou, Costas Koufaris, Athina Theodosiou, Mads Bak, Mana M. Mehrjouy, Farkhondeh Behjati, George Tanteles, Violetta Christophidou-Anastasiadou, Niels Tommerup, Carolina Sismani
Publié dans: PLOS ONE, Numéro 12/3, 2017, Page(s) e0174190, ISSN 1932-6203
Éditeur: 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

Auteurs: Christina Votsi, Costas Toufexis, Kyriaki Michailidou, Athos Antoniades, Nicos Skordis, Minas Karaolis, Constantinos Pattichis, Kyproula Christodoulou
Publié dans: Genes, Numéro 8/1, 2017, Page(s) 16, ISSN 2073-4425
Éditeur: Multidisciplinary Digital Publishing Institute (MDPI)
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Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model

Auteurs: Elena Georgiou, Kyriaki Sidiropoulou, Jan Richter, Christos Papaneophytou, Irene Sargiannidou, Alexia Kagiava, Georg von Jonquieres, Christina Christodoulou, Matthias Klugmann, Kleopas A. Kleopa
Publié dans: Brain, 2017, Page(s) aww351, ISSN 0006-8950
Éditeur: Oxford University Press
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Identification of exosomal muscle-specific miRNAs in serum of myotonic dystrophy patients relating to muscle disease progress

Auteurs: 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
Publié dans: Human Molecular Genetics, Numéro 26/17, 2017, Page(s) 3285-3302, ISSN 0964-6906
Éditeur: Oxford University Press
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Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia

Auteurs: 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
Publié dans: International Journal of Endocrinology, Numéro 2017, 2017, Page(s) 1-8, ISSN 1687-8337
Éditeur: Hindawi Publishing Corporation
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Successful use of tocilizumab in two cases of severe autoinflammatory disease with a single copy of the Mediterranean fever gene

Auteurs: Elena Nikiphorou, Vassos Neocleous, Leonidas A. Phylactou, Savvas Psarelis
Publié dans: Rheumatology, Numéro 56/9, 2017, Page(s) 1627-1628, ISSN 1462-0324
Éditeur: Oxford University Press
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Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN

Auteurs: Yiolanda-Panayiota Christou, George A. Tanteles, Elena Kkolou, Annita Ormiston, Kostas Konstantopoulos, Maria Beconi, Randall D. Marshall, Horacio Plotkin, Kleopas A. Kleopa
Publié dans: Case Reports in Neurological Medicine, Numéro 2017, 2017, Page(s) 1-6, ISSN 2090-6668
Éditeur: Hindawi
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Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X

Auteurs: Styliana Kyriakoudi, Irene Sargiannidou, Alexia Kagiava, Margarita Olympiou, Kleopas A. Kleopa
Publié dans: Human Molecular Genetics, Numéro 26/9, 2017, Page(s) 1622-1633, ISSN 0964-6906
Éditeur: Oxford University Press
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Y-chromosomal analysis of Greek Cypriots reveals a primarily common pre-Ottoman paternal ancestry with Turkish Cypriots

Auteurs: Alexandros Heraclides, Evy Bashiardes, Eva Fernández-Domínguez, Stefania Bertoncini, Marios Chimonas, Vasilis Christofi, Jonathan King, Bruce Budowle, Panayiotis Manoli, Marios A. Cariolou
Publié dans: PLOS ONE, Numéro 12/6, 2017, Page(s) e0179474, ISSN 1932-6203
Éditeur: Public Library of Science
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The “sweet” side of ER-mitochondria contact sites

Auteurs: Anthi Demetriadou, Anthi Drousiotou, Petros P. Petrou
Publié dans: Communicative & Integrative Biology, Numéro 10/4, 2017, Page(s) e1329787, ISSN 1942-0889
Éditeur: Landes Bioscience
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Mitochondrial superclusters influence age of onset of Parkinson’s disease in a gender specific manner in the Cypriot population: A case-control study

Auteurs: 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
Publié dans: PLOS ONE, Numéro 12/9, 2017, Page(s) e0183444, ISSN 1932-6203
Éditeur: Public Library of Science
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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

Auteurs: Ramona Mögling, Hervé Zeller, Joana Revez, Marion Koopmans, Chantal Reusken
Publié dans: Eurosurveillance, Numéro 22/36, 2017, ISSN 1025-496X
Éditeur: Centre Europeen pour la Surveillance Epidemiologique du SIDA
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Gene-environment interactions involving functional variants: Results from the Breast Cancer Association Consortium

Auteurs: 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
Publié dans: International Journal of Cancer, Numéro 141/9, 2017, Page(s) 1830-1840, ISSN 0020-7136
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Nipple aspirate fluid-A liquid biopsy for diagnosing breast health

Auteurs: Sadr-ul Shaheed, Catherine Tait, Kyriacos Kyriacou, Joanne Mullarkey, Wayne Burrill, Laurence H. Patterson, Richard Linforth, Mohamed Salhab, Chris W. Sutton
Publié dans: PROTEOMICS - Clinical Applications, Numéro 11/9-10, 2017, Page(s) 1700015, ISSN 1862-8346
Éditeur: Wiley - VCH Verlag GmbH & CO. KGaA
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GnRH-dependent precocious puberty manifested at the age of 14 months in a girl with 47,XXX karyotype

Auteurs: Nicos Skordis, Eleana Ferrari, Aria Antoniadou, Leonidas A. Phylactou, Pavlos Fanis, Vassos Neocleous
Publié dans: HORMONES, 2017, ISSN 1109-3099
Éditeur: Hellenic Endocrine Society
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First study on iron complexes in blood and organ samples from thalassaemic and normal laboratory mice using Mössbauer spectroscopy

Auteurs: George Charitou, Vlassis Petousis, Charalambos Tsertos, Yannis Parpottas, Marina Kleanthous, Marios Phylactides, Soteroula Christou
Publié dans: European Biophysics Journal, Numéro 47/2, 2018, Page(s) 131-138, ISSN 0175-7571
Éditeur: Springer Verlag
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European contribution to the study of ROS: A summary of the findings and prospects for the future from the COST action BM1203 (EU-ROS)

Auteurs: 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
Publié dans: Redox Biology, Numéro 13, 2017, Page(s) 94-162, ISSN 2213-2317
Éditeur: Elsevier BV
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Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect

Auteurs: 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
Publié dans: Journal of Endocrinological Investigation, Numéro 41/10, 2018, Page(s) 1149-1157, ISSN 1720-8386
Éditeur: Springer
DOI: 10.1007/s40618-018-0841-0

Selection and Identification of Skeletal-Muscle-Targeted RNA Aptamers

Auteurs: Styliana Philippou, Nikolaos P. Mastroyiannopoulos, Neoklis Makrides, Carsten W. Lederer, Marina Kleanthous, Leonidas A. Phylactou
Publié dans: Molecular Therapy - Nucleic Acids, Numéro 10, 2018, Page(s) 199-214, ISSN 2162-2531
Éditeur: Nature Publishing Group
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Rapid and Sensitive Assessment of Globin Chains for Gene and Cell Therapy of Hemoglobinopathies

Auteurs: 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
Publié dans: Human Gene Therapy Methods, Numéro 29/1, 2018, Page(s) 60-74, ISSN 1946-6536
Éditeur: Mary Ann Liebert Inc.
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Intrathecal gene therapy in mouse models expressing CMT1X mutations

Auteurs: A Kagiava, C Karaiskos, J Richter, C Tryfonos, G Lapathitis, I Sargiannidou, C Christodoulou, K A Kleopa
Publié dans: Human Molecular Genetics, Numéro 27/8, 2018, Page(s) 1460-1473, ISSN 0964-6906
Éditeur: Oxford University Press
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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

Auteurs: Petros Patsali, Panayiota Papasavva, Coralea Stephanou, Soteroulla Christou, Maria Sitarou, Michael N. Antoniou, Carsten W. Lederer, Marina Kleanthous
Publié dans: Haematologica, Numéro 103/9, 2018, Page(s) e419-e423, ISSN 0390-6078
Éditeur: 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

Auteurs: Stefania Byrou, G. Mike Makrigiorgos, Agathoklis Christofides, Ioannis Kallikas, Thessalia Papasavva, Marina Kleanthous
Publié dans: PLOS ONE, Numéro 13/7, 2018, Page(s) e0200348, ISSN 1932-6203
Éditeur: Public Library of Science
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Aniridia due to a novel microdeletion affecting $$\textit{PAX6}$$PAX6 regulatory enhancers: case report and review of the literature

Auteurs: Andreas Syrimis, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Michael Nicolaou, Eleni Loukianou, Violetta Christophidou-Anastasiadou, Stavros Malas, Carolina Sismani, George A. Tanteles
Publié dans: Journal of Genetics, Numéro 97/2, 2018, Page(s) 555-562, ISSN 0022-1333
Éditeur: Indian Academy of Sciences
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Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

Auteurs: Constantia Aristidou, Athina Theodosiou, Andria Ketoni, Mads Bak, Mana M. Mehrjouy, Niels Tommerup, Carolina Sismani
Publié dans: Molecular Cytogenetics, Numéro 11/1, 2018, ISSN 1755-8166
Éditeur: BioMed Central
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Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation

Auteurs: Andreas Syrimis, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Michael Nicolaou, Eleni Loukianou, Carolina Sismani, Stavros Malas, Violetta Christophidou‑Anastasiadou, George Tanteles
Publié dans: Molecular Medicine Reports, 2018, ISSN 1791-2997
Éditeur: Spandidos Publications
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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

Auteurs: 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
Publié dans: PLOS ONE, Numéro 13/6, 2018, Page(s) e0199010, ISSN 1932-6203
Éditeur: Public Library of Science
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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

Auteurs: Anna Minaidou, Paschalis Nicolaou, Kyproula Christodoulou
Publié dans: Cell Journal, 2018, ISSN 2228-5806
Éditeur: Royan Institute
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Carpal Tunnel Syndrome

Auteurs: Kleopas A. Kleopa
Publié dans: Annals of Internal Medicine, Numéro 163/5, 2015, Page(s) ITC1, ISSN 0003-4819
Éditeur: American College of Physicians
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MnSOD and CAT polymorphisms modulate the effect of the Mediterranean diet on breast cancer risk among Greek-Cypriot women

Auteurs: Maria G. Kakkoura, Christiana A. Demetriou, Maria A. Loizidou, Giorgos Loucaides, Ioanna Neophytou, Simon Malas, Kyriacos Kyriacou, Andreas Hadjisavvas
Publié dans: European Journal of Nutrition, Numéro 55/4, 2016, Page(s) 1535-1544, ISSN 1436-6207
Éditeur: Dr. Dietrich Steinkopff Verlag
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Dementia caregiver burden association with community participation aspect of social capital

Auteurs: Evridiki Papastavrou, Panayiota Andreou, Nicos Middleton, Haritini Tsangari, Savvas Papacostas
Publié dans: Journal of Advanced Nursing, Numéro 71/12, 2015, Page(s) 2898-2910, ISSN 0309-2402
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Identifying Non–Duchenne Muscular Dystrophy–Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs

Auteurs: Michele A. Gatheridge, Jennifer M. Kwon, Jerry M. Mendell, Günter Scheuerbrandt, Stuart J. Moat, François Eyskens, Cheryl Rockman-Greenberg, Anthi Drousiotou, Robert C. Griggs
Publié dans: JAMA Neurology, Numéro 73/1, 2016, Page(s) 111, ISSN 2168-6149
Éditeur: American Medical Association
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Titin antibodies in “seronegative” myasthenia gravis — A new role for an old antigen

Auteurs: 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
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Cognitive-Linguistic Performance and Quality of Life in Healthy Aging

Auteurs: Fofi Constantinidou, Juliana Prokopiou, Maria Nikou, Savvas Papacostas
Publié dans: Folia Phoniatrica et Logopaedica, Numéro 67/3, 2016, Page(s) 145-155, ISSN 1021-7762
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Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome

Auteurs: Gabriela E. Jones, Lisa Robertson, Amit Maniyar, Christos Shammas, Marie M. Phelan, Pradeep C. Vasudevan, George A. Tanteles
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Vestibular evoked myogenic potentials (VEMPs): Tailoring methodology to specific conditions

Auteurs: Eleftherios S. Papathanasiou
Publié dans: Clinical Neurophysiology, Numéro 127/6, 2016, Page(s) 2520-2521, ISSN 1388-2457
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Human and primate-specific microRNAs in cancer: Evolution, and significance in comparison with more distantly-related research models

Auteurs: Costas Koufaris
Publié dans: BioEssays, Numéro 38/3, 2016, Page(s) 286-294, ISSN 0265-9247
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Association between Echinococcus granulosus infection and cancer risk – a pilot study in Cyprus

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

Auteurs: 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
Publié dans: British Journal of Haematology, Numéro 180/1, 2018, Page(s) 160-164, ISSN 0007-1048
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Hb A 2 Episkopi – a novel δ -globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot–Lebanese descent

Auteurs: Carsten W. Lederer, Eleni Pavlou, George A. Tanteles, Paola Evangelidou, Carolina Sismani, Annita Kolnagou, Maria Sitarou, Soteroulla Christou, Michael Hadjigavriel, Marina Kleanthous
Publié dans: Hematology, Numéro 22/5, 2016, Page(s) 304-309, ISSN 1607-8454
Éditeur: Tailor & Francis Online
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Genomic and genetic studies of systemic sclerosis: A systematic review

Auteurs: Paraskevi Chairta, Paschalis Nicolaou, Kyproula Christodoulou
Publié dans: Human Immunology, Numéro 78/2, 2017, Page(s) 153-165, ISSN 0198-8859
Éditeur: Elsevier BV
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BRCA1 and BRCA2 mutation testing in Cyprus; a population based study

Auteurs: 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
Publié dans: Clinical Genetics, Numéro 91/4, 2017, Page(s) 611-615, ISSN 0009-9163
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Oculo-Dento-Digital Dysplasia (ODDD) Due to a GJA1 Mutation: Report of a Case with Emphasis on Dental Manifestations

Auteurs: Christina Hadjichristou, Violetta Christophidou-Anastasiadou, Athina Bakopoulou, George Tanteles, Maria Loizidou, Kyriacos Kyriacou, Andreas Hadjisavvas, Konstantinos Michalakis, Argyris Pissiotis, Petros Koidis
Publié dans: The International Journal of Prosthodontics, Numéro 30/3, 2017, Page(s) 280-285, ISSN 0893-2174
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A novel MKRN3 nonsense mutation causing familial central precocious puberty

Auteurs: Athanasios Christoforidis, Nicos Skordis, Pavlos Fanis, Meropi Dimitriadou, Maria Sevastidou, Marie M. Phelan, Vassos Neocleous, Leonidas A. Phylactou
Publié dans: Endocrine, Numéro 56/2, 2017, Page(s) 446-449, ISSN 1355-008X
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Development of a Predictive Pharmacophore Model and a 3D-QSAR Study for an in silico Screening of New Potent Bcr-Abl Kinase Inhibitors

Auteurs: Eleni Vrontaki, Georgia Melagraki, Stella Voskou, Marios Phylactides, Thomas Mavromoustakos, Marina Kleanthous, Antreas Afantitis
Publié dans: Mini-Reviews in Medicinal Chemistry, Numéro 17/3, 2017, Page(s) 188-204, ISSN 1389-5575
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Suitability of small diagnostic peripheral-blood samples for cell-therapy studies

Auteurs: 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
Publié dans: Cytotherapy, Numéro 19/2, 2017, Page(s) 311-326, ISSN 1465-3249
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Epidemiology of Amyotrophic Lateral Sclerosis in the Republic of Cyprus: A 25-Year Retrospective Study

Auteurs: Christiana A. Demetriou, Petros M. Hadjivasiliou, Kleopas A. Kleopa, Yiolanda P. Christou, Eleni Leonidou, Theodoros Kyriakides, Eleni Zamba-Papanicolaou
Publié dans: Neuroepidemiology, Numéro 48/1-2, 2017, Page(s) 79-85, ISSN 0251-5350
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A quantitative method for the assessment of dysarthrophonia in myasthenia gravis

Auteurs: Kostas Konstantopoulos, Yiolanda-Panayiota Christou, Paris Vogazianos, Eleni Zamba-Papanicolaou, Kleopas A. Kleopa
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Unsupervised detection and removal of muscle artifacts from scalp EEG recordings using canonical correlation analysis, wavelets and random forests

Auteurs: Maria N. Anastasiadou, Manolis Christodoulakis, Eleftherios S. Papathanasiou, Savvas S. Papacostas, Georgios D. Mitsis
Publié dans: Clinical Neurophysiology, Numéro 128/9, 2017, Page(s) 1755-1769, ISSN 1388-2457
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The impact of experiential avoidance on the relations between illness representations, pain catastrophising and pain interference in chronic pain

Auteurs: Evangelos C. Karademas, Maria Karekla, Magdalini Flouri, Vasilis S. Vasiliou, Orestis Kasinopoulos, Savvas S. Papacostas
Publié dans: Psychology & Health, 2017, Page(s) 1-16, ISSN 0887-0446
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Epidemiology of Huntington disease in Cyprus: A 20-year retrospective study

Auteurs: C.A. Demetriou, A. Heraclides, C. Salafori, G.A. Tanteles, K. Christodoulou, Y. Christou, E. Zamba-Papanicolaou
Publié dans: Clinical Genetics, Numéro 93/3, 2018, Page(s) 656-664, ISSN 0009-9163
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Recommendations for enterovirus diagnostics and characterisation within and beyond Europe

Auteurs: 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
Publié dans: Journal of Clinical Virology, Numéro 101, 2018, Page(s) 11-17, ISSN 1386-6532
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De novo unbalanced translocations have a complex history/aetiology

Auteurs: 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,
Publié dans: Human Genetics, Numéro 137/10, 2018, Page(s) 817-829, ISSN 0340-6717
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Quantification of dysarthrοphonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutation

Auteurs: Kostas Konstantopoulos, Eleni Zamba-Papanicolaou, Kyproula Christodoulou
Publié dans: Neurological Sciences, Numéro 39/9, 2018, Page(s) 1547-1550, ISSN 1590-1874
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The possible role of an autoimmune mechanism in the etiopathogenesis of Parkinson’s disease

Auteurs: Savvas Dalitis, Natalia Filippidou, George Krashias, Christina Christodoulou, Marios Pantzaris, Anastasia Lambrianides
Publié dans: Journal of Clinical Neuroscience, Numéro 54, 2018, Page(s) 63-68, ISSN 0967-5868
Éditeur: Churchill Livingstone
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Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

Auteurs: 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
Publié dans: International Journal of Epidemiology, 2018, ISSN 0300-5771
Éditeur: Oxford University Press
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Two unrelated individuals carrying rare mosaic deletions in TCF4 gene

Auteurs: Ludmila Kousoulidou, Angelos Alexandrou, Ioannis Papaevripidou, Paola Evangelidou, George Tanteles, Violetta C. Anastasiadou, Carolina Sismani
Publié dans: American Journal of Medical Genetics Part A, Numéro 179/1, 2019, Page(s) 134-138, ISSN 1552-4825
Éditeur: Wiley-Liss Inc
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Epidemiology of ATTRV30M neuropathy in Cyprus and the modifier effect of complement C1q on the age of disease onset

Auteurs: 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
Publié dans: Amyloid, Numéro 25/4, 2018, Page(s) 220-226, ISSN 1350-6129
Éditeur: Parthenon Publishing Group
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Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia

Auteurs: Anna Malekkou, Maura Samarani, Anthi Drousiotou, Christina Votsi, Sandro Sonnino, Marios Pantzaris, Elena Chiricozzi, Eleni Zamba-Papanicolaou, Massimo Aureli, Nicoletta Loberto, Kyproula Christodoulou
Publié dans: International Journal of Molecular Sciences, Numéro 19/10, 2018, Page(s) 3099, ISSN 1422-0067
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Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

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

Auteurs: 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
Publié dans: Nanomedicine: Nanotechnology, Biology and Medicine, Numéro 18, 2019, Page(s) 391-401, ISSN 1549-9634
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Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report

Auteurs: Anna Keravnou, Evy Bashiardes, Kyriaki Michailidou, Marinos Soteriou, Areti Moushi, Marios Cariolou
Publié dans: BMC Medical Genetics, Numéro 19/1, 2018, ISSN 1471-2350
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Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia

Auteurs: Vassos Neocleous, Pavlos Fanis, Leonidas A. Phylactou, Nicos Skordis
Publié dans: Frontiers in Endocrinology, Numéro 9, 2018, ISSN 1664-2392
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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

Auteurs: 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,
Publié dans: JCO Precision Oncology, Numéro 2, 2018, Page(s) 1-42, ISSN 2473-4284
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Electrophysiological testing in concussion: A guide to clinical applications

Auteurs: Eleftherios S Papathanasiou, Thomas Cronin, Barry Seemungal, Jaswinder Sandhu
Publié dans: Journal of Concussion, Numéro 2, 2018, Page(s) 205970021881263, ISSN 2059-7002
Éditeur: SAGE Publications
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Sequential Role of SOXB2 Factors in GABAergic Neuron Specification of the Dorsal Midbrain

Auteurs: Neoklis Makrides, Elena Panayiotou, Pavlos Fanis, Christos Karaiskos, George Lapathitis, Stavros Malas
Publié dans: Frontiers in Molecular Neuroscience, Numéro 11, 2018, ISSN 1662-5099
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Regulatory role of oligodendrocyte gap junctions in inflammatory demyelination

Auteurs: Christos P. Papaneophytou, Elena Georgiou, Christos Karaiskos, Irene Sargiannidou, Kyriaki Markoullis, Mona M. Freidin, Charles K. Abrams, Kleopas A. Kleopa
Publié dans: Glia, Numéro 66/12, 2018, Page(s) 2589-2603, ISSN 0894-1491
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Evaluation of Epstein-Barr virus-specific antibodies in Cypriot multiple sclerosis patients

Auteurs: Elie Deeba, Dana Koptides, Efthychia Gaglia, Astero Constantinou, Anastasia Lambrianides, Marios Pantzaris, Georges Krashias, Christina Christodoulou
Publié dans: Molecular Immunology, Numéro 105, 2019, Page(s) 270-275, ISSN 0161-5890
Éditeur: Pergamon Press
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Deregulation of LRSAM1 expression impairs the levels of TSG101, UBE2N, VPS28, MDM2 and EGFR

Auteurs: Anna Minaidou, Paschalis Nicolaou, Kyproula Christodoulou
Publié dans: PLOS ONE, Numéro 14/2, 2019, Page(s) e0211814, ISSN 1932-6203
Éditeur: Public Library of Science
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De novo mosaic MECP2 mutation in a female with Rett syndrome

Auteurs: Angelos Alexandrou, Ioannis Papaevripidou, Ioanna Maria Alexandrou, Athina Theodosiou, Paola Evangelidou, Ludmila Kousoulidou, George Tanteles, Violetta Christophidou-Anastasiadou, Carolina Sismani
Publié dans: Clinical Case Reports, Numéro 7/2, 2019, Page(s) 366-370, ISSN 2050-0904
Éditeur: John Wiley & Sons Ltd
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Gene variants of adhesion molecules predispose to MS: A case-control study

Auteurs: Efthimios Dardiotis, Elena Panayiotou, Vasileios Siokas, Athina-Maria Aloizou, Kyproula Christodoulou, Andreas Hadjisavvas, Marios Pantzaris, Nikolaos Grigoriadis, Georgios M. Hadjigeorgiou, Theodoros Kyriakides
Publié dans: Neurology Genetics, Numéro 5/1, 2019, Page(s) e304, ISSN 2376-7839
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Epilepsy Pioneers including their Short Biography in Cyprus from Past to Present and Current Educational Programs in Cyprus

Auteurs: Eleftherios Stelios Papathanasiou, Stelios Georgiades, Savvas Symeon Papacostas
Publié dans: Journal of Pediatric Epilepsy, Numéro 08/01, 2019, Page(s) 011-014, ISSN 2146-457X
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The provision of epilepsy care across Europe 2017: A 17-year follow-up survey

Auteurs: Johan Zelano, Judith Klecki, Jakob Christensen, Torbjörn Tomson, Kristina Malmgren
Publié dans: Epilepsia Open, Numéro 4/1, 2019, Page(s) 144-152, ISSN 2470-9239
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Theranostics of Genetic Diseases

Auteurs: Roberto Gambari, Marina Kleanthous
Publié dans: Molecular Diagnosis & Therapy, Numéro 23/2, 2019, Page(s) 153-154, ISSN 1177-1062
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Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases

Auteurs: Panayiota Papasavva, Marina Kleanthous, Carsten W. Lederer
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Disruptive Technology: CRISPR/Cas-Based Tools and Approaches

Auteurs: Petros Patsali, Marina Kleanthous, Carsten W. Lederer
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Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference

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

Auteurs: 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
Publié dans: Human Gene Therapy, Numéro 30/5, 2019, Page(s) 601-617, ISSN 1043-0342
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46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene

Auteurs: Vassos Neocleous, Pavlos Fanis, Feride Cinarli, Vasilis Kokotsis, Anastasios Oulas, Meropi Toumba, George M. Spyrou, Leonidas A. Phylactou, Nicos Skordis
Publié dans: Hormones, Numéro 18/3, 2019, Page(s) 315-320, ISSN 1109-3099
Éditeur: Hellenic Endocrine Society
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A novel heterozygous duplication of the SLC12A3 gene in two Gitelman syndrome pedigrees: indicating a founder effect

Auteurs: Pavlos Fanis, Elisavet Efstathiou, Vassos Neocleous, Leonidas A. Phylactou, Adamos Hadjipanayis
Publié dans: Journal of Genetics, Numéro 98/1, 2019, ISSN 0022-1333
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PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

Auteurs: 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
Publié dans: Annals of Neurology, Numéro 86/2, 2019, Page(s) 225-240, ISSN 0364-5134
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Adjustment of vascular 2-deoxy-2-[18F]fluoro-d-glucose uptake values over time through a modeling approach

Auteurs: Pavlos P. Kafouris, Iosif P. Koutagiar, Alexandros T. Georgakopoulos, Nikoletta K. Pianou, Marinos G. Metaxas, George M. Spyrou, Constantinos D. Anagnostopoulos
Publié dans: The International Journal of Cardiovascular Imaging, Numéro 35/5, 2019, Page(s) 955-964, ISSN 1569-5794
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Differential genetic and functional background in inflammatory bowel disease phenotypes of a Greek population: a systems bioinformatics approach

Auteurs: Maria Gazouli, Nikolas Dovrolis, Andre Franke, George M. Spyrou, Leonardo A. Sechi, George Kolios
Publié dans: Gut Pathogens, Numéro 11/1, 2019, ISSN 1757-4749
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Clinical course and outcome after kidney transplantation in patients with C3 glomerulonephritis due to CFHR5 nephropathy

Auteurs: 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
Publié dans: Nephrology Dialysis Transplantation, Numéro 34/10, 2019, Page(s) 1780-1788, ISSN 0931-0509
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Wide phenotypic variability in RSPH9-associated primary ciliary dyskinesia: review of a case-series from Cyprus

Auteurs: Panayiotis K. Yiallouros, Panayiotis Kouis, Panayiota Pirpa, Kyriaki Michailidou, Maria A. Loizidou, Louiza Potamiti, Margarita Kalyva, Giorgos Koutras, Kyriacos Kyriacou, Andreas Hadjisavvas
Publié dans: Journal of Thoracic Disease, Numéro 11/5, 2019, Page(s) 2067-2075, ISSN 2072-1439
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Graph Theoretical Characteristics of EEG-Based Functional Brain Networks in Patients With Epilepsy: The Effect of Reference Choice and Volume Conduction

Auteurs: Maria N. Anastasiadou, Manolis Christodoulakis, Eleftherios S. Papathanasiou, Savvas S. Papacostas, Avgis Hadjipapas, Georgios D. Mitsis
Publié dans: Frontiers in Neuroscience, Numéro 13, 2019, ISSN 1662-453X
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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Auteurs: 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
Publié dans: The American Journal of Human Genetics, Numéro 105/2, 2019, Page(s) 267-282, ISSN 0002-9297
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Whole brain and corpus callosum diffusion tensor metrics: How do they correlate with visual and verbal memory performance in chronic traumatic brain injury

Auteurs: Charalambos Yiannakkaras,Nikos Konstantinou, Fofi Constantinidou, Eva Pettemeridou, Eleni Eracleous, Savvas S. Papacostas, Ioannis Seimenis
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Auteurs: 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,
Publié dans: Nature Communications, Numéro 10/1, 2019, ISSN 2041-1723
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Mechanisms of activation induced by antiphospholipid antibodies in multiple sclerosis: Potential biomarkers of disease?

Auteurs: Natalia Filippidou, George Krashias, Christina Christodoulou, Marios Pantzaris, Anastasia Lambrianides
Publié dans: Journal of Immunological Methods, Numéro 474, 2019, Page(s) 112663, ISSN 0022-1759
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Complete sequence analysis of human toll-like receptor 3 gene in natural killer cells of multiple sclerosis patients

Auteurs: Elie Deeba, Dana Koptides, Anastasia Lambrianides, Marios Pantzaris, George Krashias, Christina Christodoulou
Publié dans: Multiple Sclerosis and Related Disorders, Numéro 33, 2019, Page(s) 100-106, ISSN 2211-0348
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Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X

Auteurs: 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
Publié dans: Human Molecular Genetics, Numéro 28/21, 2019, Page(s) 3528-3542, ISSN 0964-6906
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Molecular epidemiology of enteroviruses in Cyprus 2008-2017

Auteurs: Jan Richter, Christina Tryfonos, Christina Christodoulou
Publié dans: PLOS ONE, Numéro 14/8, 2019, Page(s) e0220938, ISSN 1932-6203
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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

Auteurs: Stephanie Christoforou, Kyproula Christodoulou, Violetta Anastasiadou, Paola Nicolaides
Publié dans: European Journal of Medical Genetics, Numéro 63/3, 2020, Page(s) 103765, ISSN 1769-7212
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Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation

Auteurs: 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
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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Auteurs: 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
Publié dans: Brain, Numéro 142/10, 2019, Page(s) 2948-2964, ISSN 0006-8950
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Prevalence of Anti-JC Virus (JCV) Antibodies in the Multiple Sclerosis (MS) Population in Cyprus: A Retrospective Study

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

Auteurs: George Charitou, Charalambos Tsertos, Yannis Parpottas, Marina Kleanthous, Carsten W. Lederer, Marios Phylactides
Publié dans: European Biophysics Journal, Numéro 48/7, 2019, Page(s) 635-643, ISSN 0175-7571
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MS-275 Chemical Analogues Promote Hemoglobin Production and Erythroid Differentiation of K562 Cells

Auteurs: Stella Voskou, Marios Phylactides, Andreas Afantitis, Georgia Melagraki, Andreas Tsoumanis, Panayotis A. Koutentis, Tina Mitsidi, Styliana I. Mirallai, Marina Kleanthous
Publié dans: Hemoglobin, Numéro 43/2, 2019, Page(s) 116-121, ISSN 0363-0269
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A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β‐thalassemia major

Auteurs: Pavlos Fanis, Ioanna Kousiappa, Marios Phylactides, Andreani Kyrri, Michael Hadjigavriel, Soteroula Christou, Maria Sitarou, Marina Kleanthous
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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

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

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

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

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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

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

Auteurs: Ekatherine Prokopiou, Panagiotis Kolovos, Christos Georgiou, Maria Kalogerou, Louiza Potamiti, Kleitos Sokratous, Kyriacos Kyriacou, Tassos Georgiou
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A Deep Learning Framework for Predicting Response to Therapy in Cancer

Auteurs: 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
Publié dans: Cell Reports, Numéro 29/11, 2019, Page(s) 3367-3373.e4, ISSN 2211-1247
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The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

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

Auteurs: 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
Publié dans: npj Breast Cancer, Numéro 5/1, 2019, ISSN 2374-4677
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Genetic and Environmental Factors Contributing to Parkinson's Disease: A Case-Control Study in the Cypriot Population

Auteurs: 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
Publié dans: Frontiers in Neurology, Numéro 10, 2019, ISSN 1664-2295
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Iridium( iii ) complexes of 1,2,4-triazines as potential bioorthogonal reagents: metal coordination facilitates luminogenic reaction with strained cyclooctynes

Auteurs: Valery N. Kozhevnikov, Michael E. Deary, Theodora Mantso, Mihalis I. Panayiotidis, Mark T. Sims
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Fluorine-18 fluorodeoxyglucose positron emission tomography-based textural features for prediction of event prone carotid atherosclerotic plaques

Auteurs: Pavlos P. Kafouris, Iosif P. Koutagiar, Alexandros T. Georgakopoulos, George M. Spyrou, Dimitrios Visvikis, Constantinos D. Anagnostopoulos
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The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements

Auteurs: Petros Patsali, Claudio Mussolino, Petros Ladas, Argyro Floga, Annita Kolnagou, Soteroula Christou, Maria Sitarou, Michael N. Antoniou, Toni Cathomen, Carsten Werner Lederer, Marina Kleanthous
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Genetic Modifiers at the Crossroads of Personalised Medicine for Haemoglobinopathies

Auteurs: Coralea Stephanou, Stella Tamana, Anna Minaidou, Panayiota Papasavva, Marina Kleanthous, Petros Kountouris
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Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status

Auteurs: 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,
Publié dans: Genetic Epidemiology, 2020, ISSN 0741-0395
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Risk factors for breast cancer brain metastases: a systematic review

Auteurs: 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
Publié dans: Oncotarget, Numéro 11/6, 2020, ISSN 1949-2553
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Aldehyde dehydrogenase 3A1 confers oxidative stress resistance accompanied by altered DNA damage response in human corneal epithelial cells

Auteurs: Georgia-Persephoni Voulgaridou, Ilias Tsochantaridis, Christos Tolkas, Rodrigo Franco, Alexandra Giatromanolaki, Mihalis I. Panayiotidis, Aglaia Pappa
Publié dans: Free Radical Biology and Medicine, Numéro 150, 2020, Page(s) 66-74, ISSN 0891-5849
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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

Auteurs: Pinelopi S. Stavrinou, Eleni Andreou, George Aphamis, Marios Pantzaris, Melina Ioannou, Ioannis S. Patrikios, Christoforos D. Giannaki
Publié dans: Nutrients, Numéro 12/2, 2020, Page(s) 325, ISSN 2072-6643
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Functional brain networks of patients with epilepsy exhibit pronounced multiscale periodicities, which correlate with seizure onset

Auteurs: Georgios D. Mitsis, Maria N. Anastasiadou, Manolis Christodoulakis, Eleftherios S. Papathanasiou, Savvas S. Papacostas, Avgis Hadjipapas
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Proteomic Studies for the Investigation of γ-Globin Induction by Decitabine in Human Primary Erythroid Progenitor Cultures

Auteurs: Andria Theodorou, Marios Phylactides, Eleni Katsantoni, Kostas Vougas, Spyros D. Garbis, Pavlos Fanis, Maria Sitarou, Swee Lay Thein, Marina Kleanthous
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A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease

Auteurs: Anna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, Theodoros Georgiou, Lluisa Vilageliu, Marina Moraitou, Helen Michelakakis, Chrystalla Prokopiou, Anthi Drousiotou
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European lipodystrophy registry: background and structure

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

Auteurs: Veronica Montesinos-Cruz, Jordan Rose, Aglaia Pappa, Mihalis I. Panayiotidis, Andrea De Vizcaya-Ruiz, Rodrigo Franco
Publié dans: Chemical Research in Toxicology, Numéro 33/2, 2019, Page(s) 536-552, ISSN 0893-228X
Éditeur: American Chemical Society
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ChemBioServer 2.0: an advanced web server for filtering, clustering and networking of chemical compounds facilitating both drug discovery and repurposing

Auteurs: Evangelos Karatzas, Juan Eiros Zamora, Emmanouil Athanasiadis, Dimitris Dellis, Zoe Cournia, George M Spyrou
Publié dans: Bioinformatics, Numéro 36/8, 2020, Page(s) 2602-2604, ISSN 1367-4803
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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Auteurs: 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
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Chromatin interactome mapping at 139 independent breast cancer risk signals

Auteurs: 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
Publié dans: Genome Biology, Numéro 21/1, 2020, ISSN 1474-760X
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The frequency of central nervous system complications in the Cypriot cohort of ATTRV30M neuropathy transplanted patients

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

Auteurs: Kalia Kyriakou, Carsten W. Lederer, Marina Kleanthous, Anthi Drousiotou, Anna Malekkou
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MicroRNAs as possible biomarkers for screening of aortic aneurysms: a systematic review and validation study

Auteurs: Areti Moushi, Kyriaki Michailidou, Marinos Soteriou, Marios Cariolou, Evy Bashiardes
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Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study

Auteurs: Rena Papachristoforou, Petros P. Petrou, Hilary Sawyer, Maggie Williams, Anthi Drousiotou
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Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

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

Auteurs: Jan Richter, Christina Tryfonos, Aristomenis Tourvas, Dora Floridou, Niki I. Paphitou, Christina Christodoulou
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Sediment microbial taxonomic and functional diversity in a natural salinity gradient challenge Remane’s “species minimum” concept

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

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

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

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

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

Auteurs: 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
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Evolution of GLUD2 Glutamate Dehydrogenase Allows Expression in Human Cortical Neurons

Auteurs: Cleanthe Spanaki, Dimitra Kotzamani, Kleopas Kleopa, Andreas Plaitakis
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A rare cause of pruritic ichthyosis: Sjögren-Larsson syndrome in the first reported patients of Cypriot descent

Auteurs: George A. Tanteles, Michael Nicolaou, Nasia Patsia, Turem Delikurt-Tuncalp, Elena Spanou-Aristidou, Eleni Leonidou, Theodoros Kyriakides, Violetta Christophidou-Anastasiadou
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In vivo monitoring of the inflammatory response in a stented mouse aorta model

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

Auteurs: Costas Koufaris, Angelos Alexandrou, Carolina Sismani, Nicos Skordis
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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

Auteurs: Antonis Ververis, Andri Christodoulou, Maria Christoforou, Christina Kamilari, Carsten W. Lederer, Niovi Santama
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Towards a European consensus for reporting incidental findings during clinical NGS testing

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

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Genetic background modifies amyloidosis in a mouse model of ATTR neuropathy

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

Auteurs: 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
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Seqenv : linking sequences to environments through text mining

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

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

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

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

Auteurs: Orthodoxia Nicolaou, Andreas Kousios, Andreas Hadjisavvas, Bernard Lauwerys, Kleitos Sokratous, Kyriacos Kyriacou
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Diagnosis and management of Silver–Russell syndrome: first international consensus statement

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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

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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)

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Phylogeography of the Koala, (Phascolarctos cinereus), and Harmonising Data to Inform Conservation

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Direct conversion of mouse embryonic fibroblasts into functional keratinocytes through transient expression of pluripotency-related genes

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Idiopathic focal epilepsies: the “lost tribe”

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Mendelian randomization study of adiposity-related traits and risk of breast, ovarian, prostate, lung and colorectal cancer

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The Relationship between Common Genetic Markers of Breast Cancer Risk and Chemotherapy-Induced Toxicity: A Case-Control Study

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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

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Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene

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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

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Vestibular evoked myogenic potentials (VEMPs) for examining vestibular function and dysfunction

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Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis

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Lessons learned — resolving the enigma of genetic factors in IBS

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Therapeutic potential of omega-3 fatty acids supplementation in a mouse model of dry macular degeneration

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

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

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

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

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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]

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

Auteurs: Angelos P. Kassianos, Giorgos Georgiou, Electra P. Papaconstantinou, Angeliki Detzortzi, Rob Horne
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Association analysis identifies 65 new breast cancer risk loci

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

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The effect of l -Arginine on Ciliary Beat Frequency in PCD patients, non-PCD respiratory patients and healthy controls

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Texture Feature Variability in Ultrasound Video of the Atherosclerotic Carotid Plaque

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

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

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

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Restless legs syndrome is contributing to fatigue and low quality of life levels in hemodialysis patients

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Editorial

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

Auteurs: Assimina Galli Tsinopoulou, Anastasios Serbis, Eleni P. Kotanidou, Eleni Litou, Vaia Dokousli, Konstantina Mouzaki, Pavlos Fanis, Vassos Neocleous, Nicos Skordis
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Mycoplasma pneumoniae as a cause of vulvar ulcers in a non-sexually active girl: a case report

Auteurs: Maria G. Koliou, Talia Kakourou, Jan Richter, Christina Christodoulou, Elpidoforos S. Soteriades
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HPV prevalence and type distribution in Cypriot women with cervical cytological abnormalities

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

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

Auteurs: Elena Panayiotou, Eleni Fella, Revekka Papacharalambous, Stavros Malas, Maria Joao Saraiva, Theodoros Kyriakides
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Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

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

Auteurs: 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
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BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

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

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

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

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

Auteurs: Constantia Aristidou, Costas Koufaris, Athina Theodosiou, Mads Bak, Mana M. Mehrjouy, Farkhondeh Behjati, George Tanteles, Violetta Christophidou-Anastasiadou, Niels Tommerup, Carolina Sismani
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Mouse Stbd1 is N -myristoylated and affects ER–mitochondria association and mitochondrial morphology

Auteurs: Anthi Demetriadou, Julia Morales-Sanfrutos, Marianna Nearchou, Otto Baba, Kyriacos Kyriacou, Edward W. Tate, Anthi Drousiotou, Petros P. Petrou
Publié dans: Journal of Cell Science, Numéro 130/5, 2017, Page(s) 903-915, ISSN 0021-9533
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Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations

Auteurs: Charles K. Abrams, Mikhail Goman, Sarah Wong, Steven S. Scherer, Kleopas A. Kleopa, Alejandro Peinado, Mona M. Freidin
Publié dans: Scientific Reports, Numéro 7/1, 2017, ISSN 2045-2322
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Mediterranean diet-gene interactions: A targeted metabolomics study in Greek-Cypriot women

Auteurs: Maria G. Kakkoura, Kleitos Sokratous, Christiana A. Demetriou, Maria A. Loizidou, Giorgos Loucaides, Eleni Kakouri, Andreas Hadjisavvas, Kyriacos Kyriacou
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Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

Auteurs: 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
Publié dans: The American Journal of Human Genetics, Numéro 104/1, 2019, Page(s) 21-34, ISSN 0002-9297
Éditeur: University of Chicago Press
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Patisiran, an RNAi therapeutic for the treatment of hereditary transthyretin-mediated amyloidosis

Auteurs: Arnt V Kristen, Senda Ajroud-Driss, Isabel Conceição, Peter Gorevic, Theodoros Kyriakides, Laura Obici
Publié dans: Neurodegenerative Disease Management, Numéro 9/1, 2019, Page(s) 5-23, ISSN 1758-2024
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SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits

Auteurs: 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
Publié dans: Nature Neuroscience, Numéro 21/12, 2018, Page(s) 1-13, ISSN 1097-6256
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Replication study of GWAS risk loci in Greek multiple sclerosis patients

Auteurs: 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
Publié dans: Neurological Sciences, Numéro 40/2, 2019, Page(s) 253-260, ISSN 1590-1874
Éditeur: Springer Verlag
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Does Natalizumab Induce or Aggravate Psoriasis? A Case Study and Review of the Literature

Auteurs: Sakis Lambrianides, Evgenios Kinnis, Eleni Leonidou, Marios Pantzaris
Publié dans: Case Reports in Neurology, Numéro 10/3, 2019, Page(s) 286-291, ISSN 1662-680X
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Multiple Integrated Non-clinical Studies Predict the Safety of Lentivirus-Mediated Gene Therapy for β-Thalassemia

Auteurs: 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
Publié dans: Molecular Therapy - Methods & Clinical Development, Numéro 11, 2018, Page(s) 9-28, ISSN 2329-0501
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Adherence to pneumococcal conjugate vaccination schedule and uptake rate as compared to the established diphtheria-tetanus-acellular pertussis vaccination in Cyprus

Auteurs: Adamos Hadjipanayis, Elisavet Efstathiou, Kyriaki Michaelidou, Vasiliki Papaevangelou
Publié dans: Vaccine, Numéro 36/38, 2018, Page(s) 5685-5691, ISSN 0264-410X
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Identification of nine new susceptibility loci for endometrial cancer

Auteurs: 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
Publié dans: Nature Communications, Numéro 9/1, 2018, ISSN 2041-1723
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Degradation and remobilization of endogenous retroviruses by recombination during the earliest stages of a germ-line invasion

Auteurs: 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
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Éditeur: National Academy of Sciences
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Novel Divergent Polar Bear-Associated Mastadenovirus Recovered from a Deceased Juvenile Polar Bear

Auteurs: Anisha Dayaram, Kyriakos Tsangaras, Selvaraj Pavulraj, Walid Azab, Nicole Groenke, Gudrun Wibbelt, Florian Sicks, Nikolaus Osterrieder, Alex D. Greenwood
Publié dans: mSphere, Numéro 3/4, 2018, Page(s) e00171-18, ISSN 2379-5042
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Adaptation and conservation insights from the koala genome

Auteurs: 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
Publié dans: Nature Genetics, Numéro 50/8, 2018, Page(s) 1102-1111, ISSN 1061-4036
Éditeur: Nature Publishing Group
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A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

Auteurs: 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
Publié dans: Nature Genetics, Numéro 50/7, 2018, Page(s) 968-978, ISSN 1061-4036
Éditeur: Nature Publishing Group
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Positioning Europe for the EPITRANSCRIPTOMICS challenge

Auteurs: 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
Publié dans: RNA Biology, 2018, Page(s) 1-3, ISSN 1547-6286
Éditeur: Landes Bioscience
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Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses

Auteurs: 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
Publié dans: Cancer Medicine, Numéro 7/5, 2018, Page(s) 1978-1987, ISSN 2045-7634
Éditeur: Wiley
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Filling the gap between chemical carcinogenesis and the hallmarks of cancer: A temporal perspective

Auteurs: Christiana A. Demetriou, Davide Degli Esposti, Kristi Pullen Fedinick, Federica Russo, Oliver Robinson, Paolo Vineis
Publié dans: European Journal of Clinical Investigation, Numéro 48/6, 2018, Page(s) e12933, ISSN 0014-2972
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Comparative analysis of affected and unaffected areas of systemic sclerosis skin biopsies by high-throughput proteomic approaches

Auteurs: Paraskevi Chairta, Paschalis Nicolaou, Kleitos Sokratous, Christine Galant, Frédéric Houssiau, Anastasis Oulas, George M. Spyrou, Marta E. Alarcon-Riquelme, Bernard R. Lauwerys, Kyproula Christodoulou
Publié dans: Arthritis Research & Therapy, Numéro 22/1, 2020, ISSN 1478-6362
Éditeur: Springer Nature
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PathWalks: Identifying pathway communities using a disease-related map of integrated information

Auteurs: Evangelos Karatzas, Margarita Zachariou, Marilena M Bourdakou, George Minadakis, Anastasis Oulas, George Kolios, Alex Delis, George M Spyrou
Publié dans: Bioinformatics, 2020, ISSN 1367-4803
Éditeur: Oxford University Press
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In Silico Identification of Antimicrobial Peptides in the Proteomes of Goat and Sheep Milk and Feta Cheese

Auteurs: Marios Tomazou, Anastasis Oulas, Athanasios K. Anagnostopoulos, George Th. Tsangaris, George M. Spyrou
Publié dans: Proteomes, Numéro 7/4, 2019, Page(s) 32, ISSN 2227-7382
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A Web Tool for Ranking Candidate Drugs Against a Selected Disease Based on a Combination of Functional and Structural Criteria

Auteurs: Evangelos Karatzas, George Minadakis, George Kolios, Alex Delis, George M. Spyrou
Publié dans: Computational and Structural Biotechnology Journal, Numéro 17, 2019, Page(s) 939-945, ISSN 2001-0370
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Selecting variants of unknown significance through network-based gene-association significantly improves risk prediction for disease-control cohorts

Auteurs: Anastasis Oulas, George Minadakis, Margarita Zachariou, George M. Spyrou
Publié dans: Scientific Reports, Numéro 9/1, 2019, ISSN 2045-2322
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Inhibition of Breast Cancer Cell Invasion by Ras Suppressor-1 (RSU-1) Silencing Is Reversed by Growth Differentiation Factor-15 (GDF-15)

Auteurs: Vasiliki Gkretsi, Maria Louca, Andreas Stylianou, George Minadakis, George M. Spyrou, Triantafyllos Stylianopoulos
Publié dans: International Journal of Molecular Sciences, Numéro 20/1, 2019, Page(s) 163, ISSN 1422-0067
Éditeur: Multidisciplinary Digital Publishing Institute (MDPI)
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Valorization of agricultural wastes could improve soil fertility and mitigate soil direct N2O emissions

Auteurs: Ioannis Anastopoulos, Michalis Omirou, Coralea Stephanou, Anastasios Oulas, Michalis A. Vasiliades, Angelos M. Efstathiou, Ioannis M. Ioannides
Publié dans: Journal of Environmental Management, Numéro 250, 2019, Page(s) 109389, ISSN 0301-4797
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18F-Fluorodeoxyglucose Positron Emission Tomography/Computed Tomographic Imaging Detects Aortic Wall Inflammation in Patients With Repaired Coarctation of Aorta

Auteurs: 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
Publié dans: Circulation: Cardiovascular Imaging, Numéro 11/1, 2018, ISSN 1941-9651
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Omega-3 Fatty Acids Supplementation: Therapeutic Potential in a Mouse Model of Stargardt Disease

Auteurs: Ekatherine Prokopiou, Panagiotis Kolovos, Maria Kalogerou, Anastasia Neokleous, Orthodoxia Nicolaou, Kleitos Sokratous, Kyriacos Kyriacou, Tassos Georgiou
Publié dans: Investigative Opthalmology & Visual Science, Numéro 59/7, 2018, Page(s) 2757, ISSN 1552-5783
Éditeur: ARVO
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Restless legs syndrome in Multiple Sclerosis patients: a contributing factor for fatigue, impaired functional capacity, and diminished health-related quality of life

Auteurs: Christoforos D. Giannaki, Panagiotis Aristotelous, Manos Stefanakis, Georgios M. Hadjigeorgiou, Mauro Manconi, Eleni Leonidou, Giorgos K. Sakkas, Marios Pantzaris
Publié dans: Neurological Research, Numéro 40/7, 2018, Page(s) 588-594, ISSN 0161-6412
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Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Auteurs: 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,
Publié dans: Nature Genetics, Numéro 50/5, 2018, Page(s) 766-767, ISSN 1061-4036
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Monitoring opioid and benzodiazepine use and abuse: Is oral fluid or urine the preferred specimen type?

Auteurs: Athena K. Petrides, Stacy E.F. Melanson, Michalis Kantartjis, Rachel D. Le, Christiana A. Demetriou, James G. Flood
Publié dans: Clinica Chimica Acta, Numéro 481, 2018, Page(s) 75-82, ISSN 0009-8981
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The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

Auteurs: 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
Publié dans: Human Mutation, Numéro 39/5, 2018, Page(s) 729-741, ISSN 1059-7794
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An electroglottographical analysis-based discriminant function model differentiating multiple sclerosis patients from healthy controls

Auteurs: George D. Vavougios, Triantafyllos Doskas, Kostas Konstantopoulos
Publié dans: Neurological Sciences, Numéro 39/5, 2018, Page(s) 847-850, ISSN 1590-1874
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Peripheral neuropathies and the vestibular system: Is there a role for vestibular rehabilitation?

Auteurs: Eleftherios S. Papathanasiou
Publié dans: Clinical Neurophysiology, Numéro 129/4, 2018, Page(s) 847-848, ISSN 1388-2457
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Effects of controlled dehydration on sleep quality and quantity: A polysomnographic study in healthy young adults

Auteurs: Panagiotis Aristotelous, George Aphamis, Giorgos K. Sakkas, Eleni Andreou, Marios Pantzaris, Theodoros Kyprianou, Georgios M. Hadjigeorgiou, Mauro Manconi, Christoforos D. Giannaki
Publié dans: Journal of Sleep Research, Numéro 28/3, 2018, Page(s) e12662, ISSN 0962-1105
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Oral health training, knowledge, attitudes and practices of primary care paediatricians: a European survey

Auteurs: Adamos Hadjipanayis, Zachi Grossman, Stefano del Torso, Kyriaki Michailidou, Diego Van Esso, Rita Cauwels
Publié dans: European Journal of Pediatrics, Numéro 177/5, 2018, Page(s) 675-681, ISSN 0340-6199
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Evaluation of nipple aspirate fluid as a diagnostic tool for early detection of breast cancer

Auteurs: Sadr-ul Shaheed, Catherine Tait, Kyriacos Kyriacou, Richard Linforth, Mohamed Salhab, Chris Sutton
Publié dans: Clinical Proteomics, Numéro 15/1, 2018, ISSN 1542-6416
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Arterial tortuosity syndrome: 40 new families and literature review

Auteurs: 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
Publié dans: Genetics in Medicine, Numéro 20/10, 2018, Page(s) 1236-1245, ISSN 1098-3600
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Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium

Auteurs: 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
Publié dans: International Journal of Epidemiology, Numéro 47/2, 2018, Page(s) 526-536, ISSN 0300-5771
Éditeur: Oxford University Press
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A European multicentre evaluation of detection and typing methods for human enteroviruses and parechoviruses using RNA transcripts

Auteurs: 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
Publié dans: Journal of Medical Virology, 2020, ISSN 0146-6615
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A Mendelian randomization analysis of circulating lipid traits and breast cancer risk

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

Auteurs: 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
Publié dans: Vaccine, Numéro 38/6, 2020, Page(s) 1505-1512, ISSN 0264-410X
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Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

Auteurs: 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
Publié dans: Molecular Cytogenetics, Numéro 12/1, 2019, ISSN 1755-8166
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C5aR agonist enhances phagocytosis of fibrillar and non-fibrillar Aβ amyloid and preserves memory in a mouse model of familial Alzheimer’s disease

Auteurs: Elena Panayiotou, Eleni Fella, Savanna Andreou, Revekka Papacharalambous, Petroula Gerasimou, Paul Costeas, Stella Angeli, Ioanna Kousiappa, Savvas Papacostas, Theodoros Kyriakides
Publié dans: PLOS ONE, Numéro 14/12, 2019, Page(s) e0225417, ISSN 1932-6203
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Gene therapy approaches targeting Schwann cells for demyelinating neuropathies

Auteurs: Irene Sargiannidou, Alexia Kagiava, Kleopas A. Kleopa
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Provider Misinterpretation, Documentation, and Follow-Up of Definitive Urine Drug Testing Results

Auteurs: Isaac Chua, Athena K. Petrides, Gordon D. Schiff, Jaime R. Ransohoff, Michalis Kantartjis, Jocelyn Streid, Christiana A. Demetriou, Stacy E. F. Melanson
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Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

Auteurs: 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
Publié dans: BMC Cardiovascular Disorders, Numéro 19/1, 2019, ISSN 1471-2261
Éditeur: BioMed Central
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Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5′-UTR Region of the Imprinted MKRN3 Gene

Auteurs: Pavlos Fanis, Nicos Skordis, Meropi Toumba, Nikoletta Papaioannou, Anestis Makris, Andreas Kyriakou, Vassos Neocleous, Leonidas A. Phylactou
Publié dans: Frontiers in Endocrinology, Numéro 10, 2019, ISSN 1664-2392
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A novel case of inclusion body myositis and myasthenia gravis

Auteurs: Sakis Lambrianides, Evgenios Kinnis, Michele Cleanthous, Revekka Papacharalambous, Elena Panayiotou, Eleni Zamba-Papanicolaou, Theodoros Kyriakides
Publié dans: Neuromuscular Disorders, Numéro 29/10, 2019, Page(s) 771-775, ISSN 0960-8966
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Evidence for miR-548c-5p regulation of FOXC2 transcription through a distal genomic target site in human podocytes

Auteurs: Andrea Christofides, Gregory Papagregoriou, Harsh Dweep, Neoklis Makrides, Norbert Gretz, Kyriacos Felekkis, Constantinos Deltas
Publié dans: Cellular and Molecular Life Sciences, 2019, ISSN 1420-682X
Éditeur: Birkhauser Verlag
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Retrospective longitudinal study of ALS in Cyprus: Clinical characteristics, management and survival

Auteurs: Christiana A. Demetriou, Petros M. Hadjivasiliou, Kleopas A. Kleopa, Yiolanda P. Christou, Eleni Leonidou, Theodoros Kyriakides, Eleni Zamba-Papanicolaou
Publié dans: PLOS ONE, Numéro 14/9, 2019, Page(s) e0220246, ISSN 1932-6203
Éditeur: Public Library of Science
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Associations between functional capacity, isokinetic leg strength, sleep quality and cognitive function in multiple sclerosis patients: a cross-sectional study

Auteurs: Panayiotis Aristotelous, Manos Stefanakis, Marios Pantzaris, Constantinos Pattichis, Georgios M Hadjigeorgiou, Christoforos D Giannaki
Publié dans: Postgraduate Medicine, Numéro 131/7, 2019, Page(s) 453-460, ISSN 0032-5481
Éditeur: Mcgraw Hill
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TREM2 R47H (rs75932628) variant is unlikely to contribute to Multiple Sclerosis susceptibility and severity in a large Greek MS cohort

Auteurs: 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
Publié dans: Multiple Sclerosis and Related Disorders, Numéro 35, 2019, Page(s) 116-118, ISSN 2211-0348
Éditeur: Elsevier
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A retrospective observational study of rituximab treatment in multiple sclerosis patients in Cyprus

Auteurs: Eleni Leonidou, Marios Pantzaris, Kleopas A. Kleopa, Maria A. Loizidou, Theodoros Kyriakides, Yiolanda P. Christou
Publié dans: Postgraduate Medicine, Numéro 131/7, 2019, Page(s) 486-489, ISSN 0032-5481
Éditeur: Mcgraw Hill
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Association between variants of neuromedin U gene and taste thresholds and food preferences in European children: Results from the IDEFICS study

Auteurs: 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
Publié dans: Appetite, Numéro 142, 2019, Page(s) 104376, ISSN 0195-6663
Éditeur: Elsevier BV
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Smoking does not accelerate leucocyte telomere attrition: a meta-analysis of 18 longitudinal cohorts

Auteurs: 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
Publié dans: Royal Society Open Science, Numéro 6/6, 2019, Page(s) 190420, ISSN 2054-5703
Éditeur: 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

Auteurs: 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
Publié dans: Nature Genetics, Numéro 51/8, 2019, Page(s) 1207-1214, ISSN 1061-4036
Éditeur: Nature Publishing Group
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Why and when to refer patients for vestibular evoked myogenic potentials: A critical review

Auteurs: E.S. Papathanasiou, D. Straumann
Publié dans: Clinical Neurophysiology, Numéro 130/9, 2019, Page(s) 1539-1556, ISSN 1388-2457
Éditeur: Elsevier BV
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Does SCFD1 rs10139154 Polymorphism Decrease Alzheimer’s Disease Risk?

Auteurs: 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
Publié dans: Journal of Molecular Neuroscience, Numéro 69/2, 2019, Page(s) 343-350, ISSN 0895-8696
Éditeur: Humana Press, Inc.
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The role of oligodendrocyte gap junctions in neuroinflammation

Auteurs: Christos Papaneophytou, Elena Georgiou, Kleopas A. Kleopa
Publié dans: Channels, Numéro 13/1, 2019, Page(s) 247-263, ISSN 1933-6950
Éditeur: Landes Bioscience
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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Auteurs: 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
Publié dans: The American Journal of Human Genetics, Numéro 105/1, 2019, Page(s) 132-150, ISSN 0002-9297
Éditeur: 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

Auteurs: 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
Publié dans: International Journal of Epidemiology, Numéro 48/3, 2019, Page(s) 1016-1017, ISSN 0300-5771
Éditeur: Oxford University Press
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Cost-effectiveness analysis of three algorithms for diagnosing primary ciliary dyskinesia: a simulation study

Auteurs: Panayiotis Kouis, Stefania I. Papatheodorou, Nicos Middleton, George Giallouros, Kyriacos Kyriacou, Joshua T. Cohen, John S. Evans, Panayiotis K. Yiallouros
Publié dans: Orphanet Journal of Rare Diseases, Numéro 14/1, 2019, ISSN 1750-1172
Éditeur: BioMed Central
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Assessment of melanoma candidate genes in a meta‐analysis of 16 534 melanoma cases

Auteurs: 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
Publié dans: Journal of the European Academy of Dermatology and Venereology, Numéro 33/10, 2019, ISSN 0926-9959
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The functional ALDH2 polymorphism is associated with breast cancer risk: A pooled analysis from the Breast Cancer Association Consortium

Auteurs: 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
Publié dans: Molecular Genetics & Genomic Medicine, Numéro 7/6, 2019, Page(s) e707, ISSN 2324-9269
Éditeur: Wiley
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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Auteurs: 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,
Publié dans: Nature Communications, Numéro 10/1, 2019, ISSN 2041-1723
Éditeur: Nature Publishing Group
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Montreal Cognitive Assessment in a Greek sample of patients with multiple sclerosis: A validation study

Auteurs: Kostas Konstantopoulos, Paris Vogazianos
Publié dans: Applied Neuropsychology: Adult, 2019, Page(s) 1-5, ISSN 2327-9109
Éditeur: Taylor and Francis
DOI: 10.1080/23279095.2019.1588123

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

Auteurs: Eleftherios S. Papathanasiou
Publié dans: Clinical Neurophysiology Practice, Numéro 4, 2019, Page(s) 37-38, ISSN 2467-981X
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ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population

Auteurs: Efthimios Dardiotis, Emmanouil Karampinis, Vasileios Siokas, Athina-Maria Aloizou, Dimitrios Rikos, Styliani Ralli, Dimitra Papadimitriou, Dimitrios P. Bogdanos, Georgios M. Hadjigeorgiou
Publié dans: Neurological Sciences, Numéro 40/6, 2019, Page(s) 1237-1244, ISSN 1590-1874
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Vestibular evoked myogenic potentials (VEMPs) in systemic disease

Auteurs: Eleftherios S. Papathanasiou
Publié dans: Clinical Neurophysiology, Numéro 130/5, 2019, Page(s) 789-790, ISSN 1388-2457
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Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

Auteurs: 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
Publié dans: Nature Genetics, Numéro 51/3, 2019, Page(s) 452-469, ISSN 1061-4036
Éditeur: Nature Publishing Group
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Shared heritability and functional enrichment across six solid cancers

Auteurs: 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.
Publié dans: Nature Communications, Numéro 10/1, 2019, ISSN 2041-1723
Éditeur: Nature Publishing Group
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Transthyretin deposition in the eye in the era of effective therapy for hereditary ATTRV30M amyloidosis

Auteurs: 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
Publié dans: Amyloid, Numéro 26/1, 2019, Page(s) 10-14, ISSN 1350-6129
Éditeur: Parthenon Publishing Group
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Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci

Auteurs: 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
Publié dans: Molecular Psychiatry, 2019, ISSN 1359-4184
Éditeur: Nature Publishing Group
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Correction: Arterial tortuosity syndrome: 40 new families and literature review

Auteurs: 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
Publié dans: Genetics in Medicine, Numéro 21/8, 2019, Page(s) 1894-1895, ISSN 1098-3600
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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

Auteurs: 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
Publié dans: International Journal of Cancer, 2020, ISSN 0020-7136
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First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature

Auteurs: Kritioti Evie, Theodosiou Athina, Nicolaou Nayia, Alexandrou Angelos, Papaevripidou Ioannis, Efstathiou Elisavet, Christophidou-Anastasiadou Violetta, Sismani Carolina, Tanteles A. George
Publié dans: European Journal of Medical Genetics, 2020, Page(s) 103939, ISSN 1769-7212
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Combined associations of a polygenic risk score and classical risk factors with breast cancer risk

Auteurs: 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
Publié dans: JNCI: Journal of the National Cancer Institute, 2020, ISSN 0027-8874
Éditeur: Oxford University Press
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Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

Auteurs: 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
Publié dans: Nature Genetics, Numéro 52/5, 2020, Page(s) 494-504, ISSN 1061-4036
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Genetic Susceptibility to Systemic Sclerosis in the Greek-Cypriot Population: A Pilot Study

Auteurs: Paraskevi Chairta, Savvas Psarelis, Kyriaki Michailidou, Christiana Demetriou, Sofia Symeonidou, Paschalis Nicolaou, Kyproula Christodoulou
Publié dans: Genetic Testing and Molecular Biomarkers, Numéro 24/5, 2020, Page(s) 309-317, ISSN 1945-0265
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Prospective Risk Assessment of Medicine Shortages in Europe and Israel: Findings and Implications

Auteurs: 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
Publié dans: Frontiers in Pharmacology, Numéro 11, 2020, ISSN 1663-9812
Éditeur: Frontiers Media S.A.
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Sulforaphane and iberin are potent epigenetic modulators of histone acetylation and methylation in malignant melanoma

Auteurs: Melina Mitsiogianni, Dimitrios T. Trafalis, Rodrigo Franco, Vasilis Zoumpourlis, Aglaia Pappa, Mihalis I. Panayiotidis
Publié dans: European Journal of Nutrition, 2020, ISSN 1436-6207
Éditeur: Dr. Dietrich Steinkopff Verlag
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Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

Auteurs: 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
Publié dans: Addiction Biology, 2020, Page(s) e12880, ISSN 1355-6215
Éditeur: Taylor & Francis
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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

Auteurs: 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
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Morvan syndrome: Clinical and serological observations in 29 cases

Auteurs: Sarosh R. Irani, Philippa Pettingill, Kleopas A. Kleopa, Natasa Schiza, Patrick Waters, Claudio Mazia, Luigi Zuliani, Osamu Watanabe, Bethan Lang, Camilla Buckley, Angela Vincent
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Early treatment with glucocorticoids or cyclophosphamide retains the slit diaphragm proteins nephrin and podocin in experimental lupus nephritis

Auteurs: D. Moysiadis, G. Perysinaki, G. Bertsias, S. Stratakis, K. Kyriacou, L. Nakopoulou, D. Boumpas, E. Daphnis
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Proteomic Profiling of Breast Tissue Collagens and Site-specific Characterization of Hydroxyproline Residues of Collagen Alpha-1-(I)

Auteurs: Helen Montgomery, Nitin Rustogi, Andreas Hadjisavvas, Koichi Tanaka, Kyriacos Kyriacou, Chris W. Sutton
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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

Auteurs: 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
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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

Auteurs: Collaborative Group on Hormonal Factors in Breast Cancer
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KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients

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

Auteurs: G. Christopoulos, G.M. Ezzat, M. Kleanthous
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Disruption of oligodendrocyte gap junctions in experimental autoimmune encephalomyelitis

Auteurs: Kyriaki Markoullis, Irene Sargiannidou, Christopher Gardner, Andreas Hadjisavvas, Richard Reynolds, Kleopas A. Kleopa
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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

Auteurs: Franz Fazekas
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How do mutations in GJB1 cause X-linked Charcot–Marie–Tooth disease?

Auteurs: Kleopas A. Kleopa, Charles K. Abrams, Steven S. Scherer
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Cationic star polymer siRNA transfectants interconnected with a piperazine-based cationic cross-linker

Auteurs: Kyriaki S. Pafiti, Costas S. Patrickios, Theoni K. Georgiou, Edna N. Yamasaki, Nikolaos P. Mastroyiannopoulos, Leonidas A. Phylactou
Publié dans: European Polymer Journal, Numéro 00143057, 2012, Page(s) 1422-1430, ISSN 0014-3057
Éditeur: Pergamon Press Ltd.
DOI: 10.1016/j.eurpolymj.2012.05.008

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

Auteurs: 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
Publié dans: Human Mutation, Numéro 10597794, 2012, Page(s) 1513-1519, ISSN 1059-7794
Éditeur: John Wiley & Sons Inc.
DOI: 10.1002/humu.22147

Effects of growth hormone on heart structure and function in adolescence

Auteurs: Meropi Toumba, Vassos Neocleous, Christos Shammas, Antonis Jossif, Nicos Skordis
Publié dans: Georgian Medical News, Numéro 210, 2012, Page(s) 34-39, ISSN 1512-0112
Éditeur: Assotsiatsiia delovoi pressy Gruzii

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

Auteurs: Vassos Neocleous, Christos Shammas, Alexia A. Phedonos, Evaggelia Karaoli, Andreas Kyriakou, Meropi Toumba, Leonidas A. Phylactou, Nicos Skordis
Publié dans: Georgian Medical News, Numéro 210, 2012, Page(s) 40-47, ISSN 1512-0112
Éditeur: Assotsiatsiia delovoi pressy Gruzii

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

Auteurs: I.S. Patrikios, M.C. Pantzaris, G.N. Loukaides, E.E. Ntzani
Publié dans: Clinical Nutrition Supplements, Numéro 17441161, 2012, Page(s) 266, ISSN 1744-1161
Éditeur: Elsevier BV
DOI: 10.1016/S1744-1161(12)70661-0

Segmentation of the Common Carotid Intima-Media Complex in Ultrasound Images Using Active Contours

Auteurs: S. Petroudi, C. Loizou, M. Pantziaris, C. Pattichis
Publié dans: IEEE Transactions on Biomedical Engineering, Numéro 00189294, 2012, Page(s) 3060-3069, ISSN 0018-9294
Éditeur: Institute of Electrical and Electronics Engineers
DOI: 10.1109/TBME.2012.2214387

Psychosocial adjustment of epilepsy patients in Cyprus

Auteurs: Panayiotis Stavrinides, Fofi Constantinidou, Irena Anastassiou, Antri Malikides, Savvas Papacostas
Publié dans: Epilepsy & Behavior, Numéro 15255050, 2012, Page(s) 98-104, ISSN 1525-5050
Éditeur: Academic Press
DOI: 10.1016/j.yebeh.2012.05.022

Overview of Genetic Defects in Endocrinopathies in the Island of Cyprus; Evidence of a Founder Effect

Auteurs: Christos Shammas, Vassos Neocleous, Meropi Toumba, Constantina Costi, Alexia A.P. Phedonos, Elisavet Efstathiou, Andreas Kyriakou, Leonidas A. Phylactou, Nicos Skordis
Publié dans: Genetic Testing and Molecular Biomarkers, Numéro 19450265, 2012, Page(s) 1073-1079, ISSN 1945-0265
Éditeur: Mary Ann Liebert Inc.
DOI: 10.1089/gtmb.2011.0381

A comparison between disposable and reusable single fiber needle electrodes in relation to stimulated single fiber studies

Auteurs: Eleftherios S. Papathanasiou, Eleni Zamba-Papanicolaou
Publié dans: Clinical Neurophysiology, Numéro 13882457, 2012, Page(s) 1437-1439, ISSN 1388-2457
Éditeur: Elsevier BV
DOI: 10.1016/j.clinph.2011.10.046

X-linked Charcot-Marie-Tooth disease

Auteurs: Steven S. Scherer, Kleopas A. Kleopa
Publié dans: Journal of the Peripheral Nervous System, Numéro 10859489, 2012, Page(s) 9-13, ISSN 1085-9489
Éditeur: 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

Auteurs: Philippos C. Patsalis
Publié dans: Applied & Translational Genomics, Numéro 22120661, 2012, Page(s) 3-8, ISSN 2212-0661
Éditeur: Elsevier BV
DOI: 10.1016/j.atg.2012.04.001

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

Auteurs: 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
Publié dans: Prenatal Diagnosis, Numéro 01973851, 2012, Page(s) 996-1001, ISSN 0197-3851
Éditeur: John Wiley & Sons Inc.
DOI: 10.1002/pd.3947

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

Auteurs: Christina Votsi, Eleni Zamba-Papanicolaou, Anthi Georghiou, Theodoros Kyriakides, Savvas Papacostas, Kleopas A. Kleopa, Marios Pantzaris, Kyproula Christodoulou
Publié dans: Journal of the Neurological Sciences, Numéro 0022510X, 2012, Page(s) 154-157, ISSN 0022-510X
Éditeur: 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

Auteurs: G. Christopoulou, C. Sismani, M. Sakellariou, M. Saklamaki, V. Athanassiou, V. Velissariou
Publié dans: Gene, Numéro 03781119, 2013, Page(s) 694-697, ISSN 0378-1119
Éditeur: Elsevier BV
DOI: 10.1016/j.gene.2013.02.044

BRCA1 and Its Network of Interacting Partners

Auteurs: Charita Christou, Kyriacos Kyriacou
Publié dans: Biology, Numéro 20797737, 2013, Page(s) 40-63, ISSN 2079-7737
Éditeur: 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

Auteurs: Efthimios Dardiotis, Elena Panayiotou, Marianne L. Feldman, Andreas Hadjisavvas, Stavros Malas, Ilia Vonta, Georgios Hadjigeorgiou, Kyriakos Kyriakou, Theodoros Kyriakides
Publié dans: Neuroscience Letters, Numéro 03043940, 2013, Page(s) 170-175, ISSN 0304-3940
Éditeur: Elsevier BV
DOI: 10.1016/j.neulet.2013.05.058

Methylome Analysis and Epigenetic Changes Associated with Menarcheal Age

Auteurs: 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
Publié dans: PLoS ONE, Numéro 19326203, 2013, Page(s) e79391, ISSN 1932-6203
Éditeur: 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

Auteurs: Paola Evangelidou, Angelos Alexandrou, Maria Moutafi, Marios Ioannides, Pavlos Antoniou, George Koumbaris, Ioannis Kallikas, Voula Velissariou, Carolina Sismani, Philippos C. Patsalis
Publié dans: BioMed Research International, Numéro 23146133, 2013, Page(s) 1-14, ISSN 2314-6133
Éditeur: Hindawi Publishing Corporation
DOI: 10.1155/2013/346762

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

Auteurs: 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
Publié dans: Frontiers in Neurology, Numéro 16642295, 2013, ISSN 1664-2295
Éditeur: 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

Auteurs: Christoforos D Giannaki, Giorgos K Sakkas, Christina Karatzaferi, Georgios M Hadjigeorgiou, Eleftherios Lavdas, Theodoros Kyriakides, Yiannis Koutedakis, Ioannis Stefanidis
Publié dans: BMC Nephrology, Numéro 14712369, 2013, Page(s) 194, ISSN 1471-2369
Éditeur: BioMed Central
DOI: 10.1186/1471-2369-14-194

Connexin pathology in chronic multiple sclerosis and experimental autoimmune encephalomyelitis

Auteurs: Kleopas A. Kleopa, Irene Sargiannidou, Kyriaki Markoullis
Publié dans: Clinical and Experimental Neuroimmunology, Numéro 17591961, 2013, Page(s) 45-58, ISSN 1759-1961
Éditeur: 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

Auteurs: C. Henquell, A. Mirand, J. Richter, I. Schuffenecker, B. Bottiger, S. Diedrich, E. Terletskaia-Ladwig, C. Christodoulou, H. Peigue-Lafeuille, J.-L. Bailly
Publié dans: Journal of Virology, Numéro 0022538X, 2013, Page(s) 12249-12259, ISSN 0022-538X
Éditeur: 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

Auteurs: Ludmila Kousoulidou, Maria Moutafi, Paola Nicolaides, Stavros Hadjiloizou, Christos Christofi, Anna Paradesiotou, Violetta Anastasiadou, Carolina Sismani, Philippos C. Patsalis
Publié dans: BioMed Research International, Numéro 23146133, 2013, Page(s) 1-5, ISSN 2314-6133
Éditeur: 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

Auteurs: Ludmila Kousoulidou, George Tanteles, Maria Moutafi, Carolina Sismani, Philippos C. Patsalis, Violetta Anastasiadou
Publié dans: European Journal of Medical Genetics, Numéro 17697212, 2013, Page(s) 314-318, ISSN 1769-7212
Éditeur: Elsevier BV
DOI: 10.1016/j.ejmg.2013.03.005

Prevalence of Helicobacter pylori cagA and vacA genes in Cypriot patients

Auteurs: George Krashias, Stavros Bashiardes, Alexia Potamitou, George S Potamitis, Christina Christodoulou
Publié dans: The Journal of Infection in Developing Countries, Numéro 19722680, 2013, ISSN 1972-2680
Éditeur: 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

Auteurs: Skevi Kyriakou, Elena Kypri, Christiana Spyrou, Evdokia Tsaliki, Voula Velissariou, Elisavet A. Papageorgiou, Philippos C. Patsalis
Publié dans: Prenatal Diagnosis, Numéro 01973851, 2013, Page(s) 650-655, ISSN 0197-3851
Éditeur: John Wiley & Sons Inc.
DOI: 10.1002/pd.4140

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

Auteurs: 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
Publié dans: European Journal of Neurology, Numéro 13515101, 2013, Page(s) 997-1005, ISSN 1351-5101
Éditeur: Blackwell Publishing Inc.
DOI: 10.1111/ene.12174

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

Auteurs: Andreani R. Kyrri, Eleni Kalogerou, Dena Loizidou, Christina Ioannou, Christina Makariou, Loukas Kythreotis, Marios Phylactides, Petros Kountouris, Michael Angastiniotis, Bernadette Modell, Marina Kleanthous
Publié dans: Hemoglobin, Numéro 03630269, 2013, Page(s) 435-443, ISSN 0363-0269
Éditeur: Marcel Dekker Inc.
DOI: 10.3109/03630269.2013.801851

Brain MR image normalization in texture analysis of multiple sclerosis

Auteurs: Chritos P. Loizou, Marios Pantziaris, Constandinos S. Pattichis, Ioannis Seimenis
Publié dans: Journal of Biomedical Graphics and Computing, Numéro 19254016, 2012, Page(s) 20-33, ISSN 1925-4016
Éditeur: Sciedu Press
DOI: 10.5430/jbgc.v3n1p20

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

Auteurs: Nikolaos P. Mastroyiannopoulos, Antonis A. Antoniou, Andrie Koutsoulidou, James B. Uney, Leonidas A. Phylactou
Publié dans: Bioscience Reports, Numéro 01448463, 2013, Page(s) 903-911, ISSN 0144-8463
Éditeur: Kluwer Academic Publishers
DOI: 10.1042/BSR20130068

Despeckle Filtering Toolbox for Medical Ultrasound Video

Auteurs: Christos P. Loizou, Charoula Theofanous, Marios Pantziaris, Takis Kasparis, Paul Christodoulides, Andrew N. Nicolaides, Constantinos S. Pattichis
Publié dans: International Journal of Monitoring and Surveillance Technologies Research, Numéro 21667241, 2013, Page(s) 61-79, ISSN 2166-7241
Éditeur: IGI Global
DOI: 10.4018/ijmstr.2013100106

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

Auteurs: Paschalis Nicolaou, Carlo Cianchetti, Anna Minaidou, Giovanni Marrosu, Eleni Zamba-Papanicolaou, Lefkos Middleton, Kyproula Christodoulou
Publié dans: European Journal of Human Genetics, Numéro 10184813, 2012, Page(s) 190-194, ISSN 1018-4813
Éditeur: Natue Publishing Group
DOI: 10.1038/ejhg.2012.146

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

Auteurs: Paschalis Nicolaou, Kyproula Christodoulou
Publié dans: World Journal of Neurology, Numéro 22186212, 2013, Page(s) 42-55, ISSN 2218-6212
Éditeur: Baishideng Publishing Group
DOI: 10.5316/wjn.v3.i3.42

Infection and Cancer: Revaluation of the Hygiene Hypothesis

Auteurs: K. Oikonomopoulou, D. Brinc, K. Kyriacou, E. P. Diamandis
Publié dans: Clinical Cancer Research, Numéro 10780432, 2013, Page(s) 2834-2841, ISSN 1078-0432
Éditeur: American Association for Cancer Research
DOI: 10.1158/1078-0432.CCR-12-3661

Open-Source Telemedicine Platform for Wireless Medical Video Communication

Auteurs: A. Panayides, I. Eleftheriou, M. Pantziaris
Publié dans: International Journal of Telemedicine and Applications, Numéro 16876415, 2013, Page(s) 1-12, ISSN 1687-6415
Éditeur: Hindawi Publishing Corporation
DOI: 10.1155/2013/457491

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

Auteurs: Elisavet A Papageorgiou, Philippos C Patsalis
Publié dans: BMC Medicine, Numéro 17417015, 2013, Page(s) 56, ISSN 1741-7015
Éditeur: 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

Auteurs: 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
Publié dans: European Journal of Human Genetics, Numéro 10184813, 2013, Page(s) 1403-1410, ISSN 1018-4813
Éditeur: Natue Publishing Group
DOI: 10.1038/ejhg.2013.47

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

Auteurs: Thessalia E. Papasavva, Carsten W. Lederer, Jan Traeger-Synodinos, Ariadne Mavrou, Emmanuel Kanavakis, Christiana Ioannou, Christiana Makariou, Marina Kleanthous
Publié dans: Annals of Human Genetics, Numéro 00034800, 2013, Page(s) 115-124, ISSN 0003-4800
Éditeur: 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.

Auteurs: Eleftherios S. Papathanasiou, Savvas S. Papacostas, Marios Pantzaris
Publié dans: Multiple Sclerosis Journal, Numéro 19/supp 11, 2013, Page(s) 185-194, ISSN 1352-4585
Éditeur: SAGE Publications

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

Auteurs: Eleftherios S. Papathanasiou, Savvas S. Papacostas
Publié dans: Clinical Neurophysiology, Numéro 13882457, 2013, Page(s) 1926-1927, ISSN 1388-2457
Éditeur: 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

Auteurs: Christos P. Loizou, Efthyvoulos C. Kyriacou, Ioannis Seimenis, Marios Pantziaris, Styliani Petroudi, Minas Karaolis, Constantinos S. Pattichis
Publié dans: Intelligent Decision Technologies, Numéro 18724981, 2013, Page(s) 3-10, ISSN 1872-4981
Éditeur: IOS Press
DOI: 10.3233/IDT-120147

Identification of Stage-Specific Breast Markers Using Quantitative Proteomics

Auteurs: 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
Publié dans: Journal of Proteome Research, Numéro 15353893, 2013, Page(s) 5696-5708, ISSN 1535-3893
Éditeur: American Chemical Society
DOI: 10.1021/pr400662k

High carrier frequency of 21-hydroxylase deficiency in Cyprus

Auteurs: AAP Phedonos, C Shammas, N Skordis, TC Kyriakides, V Neocleous, LA Phylactou
Publié dans: Clinical Genetics, Numéro 00099163, 2013, Page(s) 585-588, ISSN 0009-9163
Éditeur: Blackwell Publishing Inc.
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Newly emerging C group enteroviruses may elude diagnosis due to a divergent 5′-UTR

Auteurs: Jan Richter, Christina Tryfonos, Christakis Panagiotou, Elpiniki Nikolaou, Maria Koliou, Christina Christodoulou
Publié dans: International Journal of Infectious Diseases, Numéro 12019712, 2013, Page(s) e1245-e1248, ISSN 1201-9712
Éditeur: 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

Auteurs: Christos Shammas, Vassos Neocleous, Marie M. Phelan, Lu-Yun Lian, Nicos Skordis, Leonidas A. Phylactou
Publié dans: Metabolism, Numéro 00260495, 2013, Page(s) 1535-1542, ISSN 0026-0495
Éditeur: 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

Auteurs: George A Tanteles, Abhijit Dixit, Sunil Dhar, Mohnish Suri
Publié dans: American Journal of Medical Genetics Part A, Numéro 15524825, 2013, Page(s) n/a-n/a, ISSN 1552-4825
Éditeur: 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

Auteurs: C. Sismani, J. Donoghue, A Alexandrou, M. Karkaletsi, S. Christopoulou, A.E. Konstantinidou, P. Livanos, P.C. Patsalis, V. Velissariou
Publié dans: Gene, Numéro 03781119, 2013, Page(s) 138-142, ISSN 0378-1119
Éditeur: 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

Auteurs: Meropi Toumba, Vassos Neocleous, Christos Shammas, Violetta Anastasiadou, Jeremy Allgrove, Leonidas A. Phylactou, Nicos Skordis
Publié dans: Journal of Pediatric Endocrinology and Metabolism, Numéro 0334018X, 2013, Page(s) 987-993, ISSN 0334-018X
Éditeur: Freund Publishing House Ltd.
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Molecular diagnosis of autosomal recessive cerebellar ataxia in the whole exome/genome sequencing era

Auteurs: Christina Votsi
Publié dans: World Journal of Neurology, Numéro 22186212, 2013, Page(s) 115, ISSN 2218-6212
Éditeur: Baishideng Publishing Group
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Alterations of juxtaparanodal domains in two rodent models of CNS demyelination

Auteurs: Lida Zoupi, Kyriaki Markoullis, Kleopas A. Kleopa, Domna Karagogeos
Publié dans: Glia, Numéro 08941491, 2013, Page(s) 1236-1249, ISSN 0894-1491
Éditeur: John Wiley & Sons Inc.
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miR-186 Inhibits Muscle Cell Differentiation through Myogenin Regulation

Auteurs: Antonis Antoniou, Nikolaos P. Mastroyiannopoulos, James B. Uney, Leonidas A. Phylactou
Publié dans: Journal of Biological Chemistry, Numéro 00219258, 2014, Page(s) 3923-3935, ISSN 0021-9258
Éditeur: 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

Auteurs: Charita M. Christou, Andreas Hadjisavvas, Maria Kyratzi, Christina Flouri, Ioanna Neophytou, Violetta Anastasiadou, Maria A. Loizidou, Kyriacos Kyriacou
Publié dans: PLoS ONE, Numéro 19326203, 2014, Page(s) e93400, ISSN 1932-6203
Éditeur: Public Library of Science
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Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach

Auteurs: Pavlos Fanis, Ioanna Kousiappa, Marios Phylactides, Marina Kleanthous
Publié dans: BMC Genomics, Numéro 14712164, 2014, Page(s) 108, ISSN 1471-2164
Éditeur: BioMed Central
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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

Auteurs: Theodoros Georgiou, George Christopoulos, Violetta Anastasiadou, Stavros Hadjiloizou, David Cregeen, Marie Jackson, Gavriella Mavrikiou, Marina Kleanthous, Anthi Drousiotou
Publié dans: Meta Gene, Numéro 22145400, 2014, Page(s) 200-205, ISSN 2214-5400
Éditeur: Elsevier BV
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Epidemiology, impact, and treatment options of restless legs syndrome in end-stage renal disease patients: an evidence-based review

Auteurs: Christoforos D. Giannaki, Georgios M. Hadjigeorgiou, Christina Karatzaferi, Marios C. Pantzaris, Ioannis Stefanidis, Giorgos K. Sakkas
Publié dans: Kidney International, Numéro 00852538, 2014, Page(s) 1275-1282, ISSN 0085-2538
Éditeur: Blackwell Publishing Inc.
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Molecular analysis of Cypriot patients with Glutaric aciduria type I: Identification of two novel mutations

Auteurs: Theodoros Georgiou, Paola Nicolaidou, Anastasia Hadjichristou, Rodothea Ioannou, Maria Dionysiou, Elli Siama, Georgia Chappa, Violetta Anastasiadou, Anthi Drousiotou
Publié dans: Clinical Biochemistry, Numéro 00099120, 2014, Page(s) 1300-1305, ISSN 0009-9120
Éditeur: 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

Auteurs: Marios Ioannides, Elisavet A Papageorgiou, Anna Keravnou, Evdokia Tsaliki, Christiana Spyrou, Michael Hadjidaniel, Carolina Sismani, George Koumbaris, Philippos C Patsalis
Publié dans: Molecular Cytogenetics, Numéro 17558166, 2014, Page(s) 1-8, ISSN 1755-8166
Éditeur: BioMed Central
DOI: 10.1186/s13039-014-0073-8

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

Auteurs: Maria Koliou, Evaggelia Karaoli, Elpidoforos S Soteriades, Sylvie Pavlides, Stavros Bashiardes, Christina Christodoulou
Publié dans: BMC Pediatrics, Numéro 14712431, 2014, Page(s) 6, ISSN 1471-2431
Éditeur: BioMed Central
DOI: 10.1186/1471-2431-14-6

Gene delivery targeted to oligodendrocytes using a lentiviral vector

Auteurs: Alexia Kagiava, Irene Sargiannidou, Stavros Bashiardes, Jan Richter, Natasa Schiza, Christina Christodoulou, Angela Gritti, Kleopas A. Kleopa
Publié dans: The Journal of Gene Medicine, Numéro 1099498X, 2014, Page(s) 364-373, ISSN 1099-498X
Éditeur: John Wiley & Sons Inc.
DOI: 10.1002/jgm.2813

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

Auteurs: Georgios Koutsis, Athina Kladi, Georgia Karadima, Henry Houlden, Nicholas W. Wood, Kyproula Christodoulou, Marios Panas
Publié dans: Journal of the Neurological Sciences, Numéro 0022510X, 2014, Page(s) 87-92, ISSN 0022-510X
Éditeur: Elsevier BV
DOI: 10.1016/j.jns.2013.10.012

IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology

Auteurs: Petros Kountouris, Carsten W. Lederer, Pavlos Fanis, Xenia Feleki, John Old, Marina Kleanthous
Publié dans: PLoS ONE, Numéro 19326203, 2014, Page(s) e103020, ISSN 1932-6203
Éditeur: Public Library of Science
DOI: 10.1371/journal.pone.0103020

A study of hereditary ataxias in the Greek population

Auteurs: Georgios Koutsis, Athina Kladi, Georgia Karadima, Henry Houlden, Nicholas W. Wood, Kyproula Christodoulou, Marios Panas
Publié dans: Archives of Hellenic Medicine (Greek), Numéro 31/4, 2014, Page(s) 433-445, ISSN 11-05-3992
Éditeur: The Athens Medical Society

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

Auteurs: Elena Kypri, Andri Christodoulou, Giannis Maimaris, Mette Lethan, Maria Markaki, Costas Lysandrou, Carsten W. Lederer, Nektarios Tavernarakis, Stefan Geimer, Lotte B. Pedersen, Niovi Santama
Publié dans: Cellular and Molecular Life Sciences, Numéro 1420682X, 2014, Page(s) 517-538, ISSN 1420-682X
Éditeur: 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

Auteurs: Carsten W. Lederer, Eleni Pavlou, Christiana Makariou, Georgia Hadjilambi, Nicoletta Andreou, Michael Hadjigavriel, Annita Kolnagou, Maria Sitarou, Soteroulla Christou, Marina Kleanthous
Publié dans: Annals of Hematology, Numéro 09395555, 2014, Page(s) 1625-1627, ISSN 0939-5555
Éditeur: Springer Verlag
DOI: 10.1007/s00277-013-1996-6

The Mutational Spectrum of Lynch Syndrome in Cyprus

Auteurs: 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
Publié dans: PLoS ONE, Numéro 19326203, 2014, Page(s) e105501, ISSN 1932-6203
Éditeur: Public Library of Science
DOI: 10.1371/journal.pone.0105501

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

Auteurs: Kyriaki Markoullis, Irene Sargiannidou, Natasa Schiza, Federico Roncaroli, Richard Reynolds, Kleopas A. Kleopa
Publié dans: Journal of Neuropathology & Experimental Neurology, Numéro 00223069, 2014, Page(s) 865-879, ISSN 0022-3069
Éditeur: American Association of Neuropathologists, Inc.
DOI: 10.1097/NEN.0000000000000106

Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects

Auteurs: Vassos Neocleous, Constantina Costi, Christos Shammas, Elena Spanou, Violetta Anastasiadou, George A. Tanteles, Leonidas A. Phylactou
Publié dans: Journal of Genetics, Numéro 93/2, 2014, Page(s) 471-476, ISSN 0022-1333
Éditeur: Indian Academy of Sciences

Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations

Auteurs: Vassos Neocleous, Christos Shammas, AlexiaAP Phedonos, LeonidasA Phylactou, Nicos Skordis
Publié dans: Indian Journal of Endocrinology and Metabolism, Numéro 22308210, 2014, Page(s) 72, ISSN 2230-8210
Éditeur: 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

Auteurs: Vassos Neocleous, Panayiotis K. Yiallouros, George A. Tanteles, Constantina Costi, Maria Moutafi, Phivos Ioannou, Philippos C. Patsalis, Carolina Sismani, Leonidas A. Phylactou
Publié dans: Case Reports in Genetics, Numéro 20906544, 2014, Page(s) 1-4, ISSN 2090-6544
Éditeur: Hindawi Publishing Corporation
DOI: 10.1155/2014/613863

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

Auteurs: C. PANAYIOTOU, J. RICHTER, S. BASHIARDES, D. KOPTIDES, C. TRYFONOS, C. CHRISTODOULOU
Publié dans: Epidemiology and Infection, Numéro 09502688, 2014, Page(s) 975-983, ISSN 0950-2688
Éditeur: 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

Auteurs: C. PANAYIOTOU, J. RICHTER, M. KOLIOU, N. KALOGIROU, E. GEORGIOU, C. CHRISTODOULOU
Publié dans: Epidemiology and Infection, Numéro 09502688, 2014, Page(s) 2406-2411, ISSN 0950-2688
Éditeur: Cambridge University Press
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The bifacial role of helminths in cancer: Involvement of immune and non-immune mechanisms

Auteurs: Katerina Oikonomopoulou, Davor Brinc, Andreas Hadjisavvas, Georgios Christofi, Kyriacos Kyriacou, Eleftherios P. Diamandis
Publié dans: Critical Reviews in Clinical Laboratory Sciences, Numéro 10408363, 2014, Page(s) 138-148, ISSN 1040-8363
Éditeur: Taylor & Francis
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Pharmacoresistant partial-onset epilepsy misdiagnosed as panic disorder: a case report

Auteurs: Savvas S. Papacostas, Panayiota Myrianthopoulou, Stelios Georgiades, Eleftherios S. Papathanasiou
Publié dans: Psychiatriki, Numéro 25/3, 2014, Page(s) 217-221, ISSN 1105-2333
Éditeur: Hellenike Psychiatrike Hetaireia

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

Auteurs: Evridiki Papastavrou, Panayiota Andreou, Nicos Middleton, Savvas Papacostas, Irini Kyriacou Georgiou
Publié dans: International Psychogeriatrics, Numéro 10416102, 2014, Page(s) 443-452, ISSN 1041-6102
Éditeur: Cambridge University Press
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Cervical Vestibular Evoked Myogenic Potentials in Cerebellar Lesions

Auteurs: Savvas S. Papacostas, Eleftherios Stelios Papathanasiou, Theodoros Kyriakides, Marios Pantzaris
Publié dans: Otology & Neurotology, Numéro 15317129, 2014, Page(s) 1633-1637, ISSN 1531-7129
Éditeur: Lippincott Williams & Wilkins Ltd.
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The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis

Auteurs: Elisavet Papageorgiou, George Koumbaris, Elena Kypri, Michael Hadjidaniel, Philippos Patsalis
Publié dans: Genes, Numéro 20734425, 2014, Page(s) 310-329, ISSN 2073-4425
Éditeur: Multidisciplinary Digital Publishing Institute (MDPI)
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The exhaustibility of Lambert-Eaton myasthenic syndrome

Auteurs: Eleftherios S. Papathanasiou, Eleni Zamba-Papanicolaou
Publié dans: Clinical Neurophysiology, Numéro 13882457, 2014, Page(s) 220, ISSN 1388-2457
Éditeur: Elsevier BV
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The role of ubiquitin-binding domains in human pathophysiology

Auteurs: Kleitos Sokratous, Andreas Hadjisavvas, Eleftherios P. Diamandis, Kyriacos Kyriacou
Publié dans: Critical Reviews in Clinical Laboratory Sciences, Numéro 10408363, 2014, Page(s) 280-290, ISSN 1040-8363
Éditeur: Taylor & Francis
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A Novel GBA2 Gene Missense Mutation in Spastic Ataxia

Auteurs: Christina Votsi, Eleni Zamba-Papanicolaou, Lefkos T. Middleton, Marios Pantzaris, Kyproula Christodoulou
Publié dans: Annals of Human Genetics, Numéro 00034800, 2014, Page(s) 13-22, ISSN 0003-4800
Éditeur: Blackwell Publishing Inc.
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Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family

Auteurs: George A. Tanteles, Elena Spanou-Aristidou, Chloe Antoniou, Violetta Christophidou-Anastasiadou, Kleopas A. Kleopa
Publié dans: Journal of the Neurological Sciences, Numéro 0022510X, 2014, Page(s) 233-236, ISSN 0022-510X
Éditeur: Elsevier BV
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Ocular phenotype of Mowat–Wilson syndrome in the first reported Cypriot patients

Auteurs: George A. Tanteles, Violetta Christophidou-Anastasiadou
Publié dans: Clinical Dysmorphology, Numéro 09628827, 2014, Page(s) 20-23, ISSN 0962-8827
Éditeur: Lippincott Williams and Wilkins
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Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X)

Auteurs: 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
Publié dans: Clinical Genetics, Numéro 00099163, 2015, Page(s) 461-466, ISSN 0009-9163
Éditeur: Blackwell Publishing Inc.
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A comprehensive analysis of the epidemiology and clinical characteristics of anti-LRP4 in myasthenia gravis

Auteurs: 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
Publié dans: Journal of Autoimmunity, Numéro 08968411, 2014, Page(s) 139-145, ISSN 0896-8411
Éditeur: Academic Press
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Biological embedding of early-life exposures and disease risk in humans: a role for DNA methylation

Auteurs: Christiana A. Demetriou, Karin van Veldhoven, Caroline Relton, Silvia Stringhini, Kyriacos Kyriacou, Paolo Vineis
Publié dans: European Journal of Clinical Investigation, Numéro 00142972, 2015, Page(s) 303-332, ISSN 0014-2972
Éditeur: Blackwell Publishing Inc.
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Recent trends in the gene therapy of β-thalassemia

Auteurs: Roberto Gambari, Alessia Finotti, Laura Breda, Carsten Lederer, Nicoletta Bianchi, Cristina Zuccato, Marina Klenathous, Stefano Rivella
Publié dans: Journal of Blood Medicine, Numéro 11792736, 2015, Page(s) 69, ISSN 1179-2736
Éditeur: Dove Press
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Oxaliplatin-induced neurotoxicity is mediated through gap junction channels and hemichannels and can be prevented by octanol

Auteurs: Alexia Kagiava, George Theophilidis, Irene Sargiannidou, Kyriacos Kyriacou, Kleopas A. Kleopa
Publié dans: Neuropharmacology, Numéro 00283908, 2015, Page(s) 289-305, ISSN 0028-3908
Éditeur: Pergamon Press Ltd.
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Single-nucleotide polymorphisms in one-carbon metabolism genes, Mediterranean diet and breast cancer risk: a case–control study in the Greek-Cypriot female population

Auteurs: Maria G. Kakkoura, Christiana A. Demetriou, Maria A. Loizidou, Giorgos Loucaides, Ioanna Neophytou, Yiola Marcou, Andreas Hadjisavvas, Kyriacos Kyriacou
Publié dans: Genes & Nutrition, Numéro 15558932, 2015, Page(s) 453, ISSN 1555-8932
Éditeur: New Century Health Publishers
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Molecular Basis of  -Thalassemia in Qatari Pediatric Population

Auteurs: M. Kamal, R. Badii, S. Abu Sariya, A. Abu-Dayya, M. Kleanthous, A. Amer, H. Abdulrahman
Publié dans: PEDIATRICS, Numéro 00314005, 2015, Page(s) S18-S19, ISSN 0031-4005
Éditeur: American Academy of Pediatrics
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Plerixafor+G-CSF-mobilized CD34+ cells represent an optimal graft source for thalassemia gene therapy

Auteurs: 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
Publié dans: Blood, Numéro 00064971, 2015, Page(s) 616-619, ISSN 0006-4971
Éditeur: American Society of Hematology
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Differential modulation of the juxtaparanodal complex in Multiple Sclerosis

Auteurs: Maria E. Kastriti, Irene Sargiannidou, Kleopas A. Kleopa, Domna Karagogeos
Publié dans: Molecular and Cellular Neuroscience, Numéro 10447431, 2015, Page(s) 93-103, ISSN 1044-7431
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Dysbetalipoproteinemia: Two cases report and a diagnostic algorithm

Auteurs: Anastazia Kei
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Éditeur: Baishideng Publishing Group
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Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities

Auteurs: 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
Publié dans: Gene, Numéro 03781119, 2015, Page(s) 95-100, ISSN 0378-1119
Éditeur: Elsevier BV
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Connexins, gap junctions and peripheral neuropathy

Auteurs: Kleopas A. Kleopa, Irene Sargiannidou
Publié dans: Neuroscience Letters, Numéro 03043940, 2015, Page(s) 27-32, ISSN 0304-3940
Éditeur: Elsevier BV
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Familial Mediterranean Fever Associated with MEFV Mutations in a Large Cohort of Cypriot Patients

Auteurs: 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
Publié dans: Annals of Human Genetics, Numéro 00034800, 2015, Page(s) 20-27, ISSN 0003-4800
Éditeur: Blackwell Publishing Inc.
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Elevated Muscle-Specific miRNAs in Serum of Myotonic Dystrophy Patients Relate to Muscle Disease Progress

Auteurs: Andrie Koutsoulidou, Tassos C. Kyriakides, George K. Papadimas, Yiolanda Christou, Evangelia Kararizou, Eleni Zamba Papanicolaou, Leonidas A. Phylactou
Publié dans: PLOS ONE, Numéro 19326203, 2015, Page(s) e0125341, ISSN 1932-6203
Éditeur: Public Library of Science
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Modulation of the Genome and Epigenome of Individuals Susceptible to Autism by Environmental Risk Factors

Auteurs: Costas Koufaris, Carolina Sismani
Publié dans: International Journal of Molecular Sciences, Numéro 14220067, 2015, Page(s) 8699-8718, ISSN 1422-0067
Éditeur: Multidisciplinary Digital Publishing Institute (MDPI)
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Status epilepticus developing during lacosamide monotherapy

Auteurs: S. S. Papacostas
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Éditeur: BMJ Publishing Group
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MicroRNA responses to environmental liver carcinogens: Biological and clinical significance

Auteurs: Vicky Nicolaidou, Costas Koufaris
Publié dans: Clinica Chimica Acta, Numéro 00098981, 2015, Page(s) 25-33, ISSN 0009-8981
Éditeur: Elsevier BV
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Minimally symptomatic mcardle disease, expanding the genotype-phenotype spectrum

Auteurs: Petros Petrou, Marios Pantzaris, Maria Dionysiou, Anthi Drousiotou, Theodoros Kyriakides
Publié dans: Muscle & Nerve, Numéro 0148639X, 2015, Page(s) 891-895, ISSN 0148-639X
Éditeur: John Wiley & Sons Inc.
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Molecular epidemiology of rhinoviruses in Cyprus over three consecutive seasons

Auteurs: J. RICHTER, E. NIKOLAOU, C. PANAYIOTOU, C. TRYFONOS, M. KOLIOU, C. CHRISTODOULOU
Publié dans: Epidemiology and Infection, Numéro 09502688, 2015, Page(s) 1876-1883, ISSN 0950-2688
Éditeur: Cambridge University Press
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Intraneural GJB 1 gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease

Auteurs: Irene Sargiannidou, Alexia Kagiava, Stavros Bashiardes, Jan Richter, Christina Christodoulou, Steven S. Scherer, Kleopas A. Kleopa
Publié dans: Annals of Neurology, Numéro 03645134, 2015, Page(s) 303-316, ISSN 0364-5134
Éditeur: John Wiley & Sons Inc.
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A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32

Auteurs: Irene Sargiannidou, Gun-Ha Kim, Styliana Kyriakoudi, Baik-Lin Eun, Kleopas A. Kleopa
Publié dans: neurogenetics, Numéro 13646745, 2015, Page(s) 193-200, ISSN 1364-6745
Éditeur: Springer Verlag
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A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus

Auteurs: Carolina Sismani, Georgia Christopoulou, Angelos Alexandrou, Paola Evangelidou, Jacqueline Donoghue, Anastasia E. Konstantinidou, Voula Velissariou
Publié dans: Case Reports in Genetics, Numéro 20906544, 2015, Page(s) 1-6, ISSN 2090-6544
Éditeur: Hindawi Publishing Corporation
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Transgenic replacement of Cx32 in gap junction-deficient oligodendrocytes rescues the phenotype of a hypomyelinating leukodystrophy model

Auteurs: N. Schiza, I. Sargiannidou, A. Kagiava, C. Karaiskos, M. Nearchou, K. A. Kleopa
Publié dans: Human Molecular Genetics, Numéro 09646906, 2015, Page(s) 2049-2064, ISSN 0964-6906
Éditeur: Oxford University Press
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Effects of treatment with androgen receptor ligands on microRNA expression of prostate cancer cells

Auteurs: Corrinne V. Segal, Costas Koufaris, Chris Powell, Nigel J. Gooderham
Publié dans: Toxicology, Numéro 0300483X, 2015, Page(s) 45-52, ISSN 0300-483X
Éditeur: Elsevier BV
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Genetic defects of the CYP21A2 gene in girls with premature adrenarche

Auteurs: N. Skordis, C. Shammas, A. A. P. Phedonos, A. Kyriakou, M. Toumba, V. Neocleous, L. A. Phylactou
Publié dans: Journal of Endocrinological Investigation, Numéro 17208386, 2015, Page(s) 535-539, ISSN 1720-8386
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Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: Review of the literature

Auteurs: George A. Tanteles, Angelos Alexandrou, Paola Evangelidou, Marina Gavatha, Violetta Anastasiadou, Carolina Sismani
Publié dans: American Journal of Medical Genetics Part A, Numéro 15524825, 2015, Page(s) 664-669, ISSN 1552-4825
Éditeur: Wiley-Liss Inc
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Novel GLI3 mutation in a Greek–Cypriot patient with Greig cephalopolysyndactyly syndrome

Auteurs: George A. Tanteles, Sofia Michaelidou, Eleni Loukianou, Violetta Christophidou-Anastasiadou, Kleopas A. Kleopa
Publié dans: Clinical Dysmorphology, Numéro 09628827, 2015, Page(s) 102-105, ISSN 0962-8827
Éditeur: Lippincott Williams and Wilkins
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Genetic findings of Cypriot spinal muscular atrophy patients

Auteurs: L. Theodorou, P. Nicolaou, P. Koutsou, A. Georghiou, V. Anastasiadou, G. Tanteles, T. Kyriakides, E. Zamba-Papanicolaou, K. Christodoulou
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Connexin43 and connexin47 alterations after neural precursor cells transplantation in experimental autoimmune encephalomyelitis

Auteurs: 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
Publié dans: Glia, Numéro 08941491, 2015, Page(s) 1772-1783, ISSN 0894-1491
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MuSK autoantibodies in myasthenia gravis detected by cell based assay — A multinational study

Auteurs: 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
Publié dans: Journal of Neuroimmunology, Numéro 01655728, 2015, Page(s) 10-17, ISSN 0165-5728
Éditeur: 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

Auteurs: Stavroulla Xenophontos, Vasilis Christofi, George Iosif, Pavlos Polycarpou, Panayiotis Manoli, Nafsika Demetriou, Marios A. Cariolou
Publié dans: Forensic Science International: Genetics, Numéro 18724973, 2015, Page(s) e8-e10, ISSN 1872-4973
Éditeur: Elsevier BV
DOI: 10.1016/j.fsigen.2014.10.020

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

Auteurs: Panayiotis K. Yiallouros, Panayiotis Kouis, Nicos Middleton, Marianna Nearchou, Tonia Adamidi, Andreas Georgiou, Adonis Eleftheriou, Phivos Ioannou, Andreas Hadjisavvas, Kyriacos Kyriacou
Publié dans: Respiratory Medicine, Numéro 09546111, 2015, Page(s) 347-356, ISSN 0954-6111
Éditeur: W. B. Saunders Co., Ltd.
DOI: 10.1016/j.rmed.2015.01.015

Computational Drug Repurposing for Neurodegenerative Diseases

Auteurs: Kyriaki Savva, Margarita Zachariou, Anastasis Oulas, George Minadakis, Kleitos Socratous, Nikolas Dietis and George M. Spyrou
Publié dans: 2019
Éditeur: Elselvier S&T Book Series

An application of computational drug repurposing based on transcriptomic signatures

Auteurs: E. Karatzas, G. Kolios and G. M. Spyrou
Publié dans: Computational Methods for Drug Repurposing, 2019
Éditeur: Springer Methods in Molecular Biology Series

Detecting and targeting RNA: Biomarkers and therapy for Myotonic Dystrophy

Auteurs: Nikolaos P. Mastroyiannopoulos, Andrie Koutsoulidou and Leonidas A. Phylactou
Publié dans: 2015
Éditeur: Nova Science, Inc

Intrathecal Delivery of Viral Vectors for Gene Therapy

Auteurs: Alexia Kagiava, Kleopas A. Kleopa
Publié dans: Myelin - Methods and Protocols, Numéro 1791, 2018, Page(s) 277-285, ISBN 978-1-4939-7861-8
Éditeur: Springer New York
DOI: 10.1007/978-1-4939-7862-5_22

Meta-Analysis of Common and Rare Variants

Auteurs: Kyriaki Michailidou
Publié dans: Genetic Epidemiology, Numéro 1793, 2018, Page(s) 73-88, ISBN 978-1-4939-7867-0
Éditeur: 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

Auteurs: Rena Papachristoforou, Petros P. Petrou, Hilary Sawyer, Maggie Williams, Anthi Drousiotou
Publié dans: JIMD Reports - Volume 12, 2014, Page(s) 91-98, ISBN 978-3-319-03461-4
Éditeur: Springer International Publishing
DOI: 10.1007/8904_2013_249

Genomic Arrayis in Prenatal Diagnosis

Auteurs: Paola Evangelidou, Carolina Sismani
Publié dans: 2017
Éditeur: John Wiley & Sons, Ltd

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

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

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