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

Deliverables

External Scientific and Ethics Advisory Boards proceedings - RP2

External Scientific and Ethics Advisory Boards proceedings of the second reporting period.

Exploitation Plan

Exploitation Plan

Communication plan: updated (M25)

Communication plan: updated (M25)

CING Bioinformatics workshops manuals

CING Bioinformatics workshops manuals

External Scientific and Ethics Advisory Boards proceedings - RP1

External Scientific and Ethics Advisory Boards proceedings of the first reporting period

Communication plan: updated (M37)

Communication plan: updated (M37)

IP Committee proceedings - RP3

IP Committee proceedings of the third reporting period.

Syllabus of the CSMM Bioinformatics course

Syllabus of the CSMM Bioinformatics course

IP Committee proceedings - RP2

IP Committee proceedings of the second reporting period.

Communication plan: updated (M13)

Communication plan: updated (M13)

Communication plan: initial plan

Communication plan: initial plan

External Scientific and Ethics Advisory Boards proceedings - RP3

External Scientific and Ethics Advisory Boards proceedings for the third reporting period

IP Committee proceedings - RP1

IP Committee proceedings of the first reporting period.

Call for tenders document

Call for tenders document

Communication plan: updated (M49)

Communication plan: updated (M49)

Dissemination Plan

Dissemination Plan

CING Bioinformatics Group vacancies announcement

CING Bioinformatics Group vacancies announcement

Publications

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

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

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

Author(s): Margarita Zachariou, George Minadakis, Anastasis Oulas, Sotiroula Afxenti, George M. Spyrou
Published in: Journal of Proteomics, 2018, ISSN 1874-3919
DOI: 10.1016/j.jprot.2018.03.009

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

Author(s): Anastasis Oulas, George Minadakis, Margarita Zachariou, Kleitos Sokratous, Marilena M Bourdakou, George M Spyrou
Published in: Briefings in Bioinformatics, 2017, ISSN 1467-5463
DOI: 10.1093/bib/bbx151

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

Author(s): Andrea Kakouri, Christiana Christodoulou, Margarita Zachariou, Anastasios Oulas, George Minadakis, Christiana Demetriou, Christina Votsi, Eleni Papanicolaou-Zamba, Christodoulou Kyproula, George Spyrou
Published in: IEEE Journal of Biomedical and Health Informatics, Issue 178.50, 2018, Page(s) 1-1, ISSN 2168-2194
DOI: 10.1109/JBHI.2018.2865569

PathwayConnector: finding complementary pathways to enhance functional analysis

Author(s): George Minadakis, Margarita Zachariou, Anastasis Oulas, George M Spyrou
Published in: Bioinformatics, 2018, ISSN 1367-4803
DOI: 10.1093/bioinformatics/bty693

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

Author(s): 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
Published in: Cell Death & Disease, Issue 9/7, 2018, ISSN 2041-4889
DOI: 10.1038/s41419-018-0772-x

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

Author(s): T. Georgiou, E. Prokopiou, P. Kolovos, M. Kalogerou, A. Neokleous, O. Nicolaou, K. Sokratous, K. Kyriacou
Published in: Acta Ophthalmologica, Issue 95, 2017, ISSN 1755-375X
DOI: 10.1111/j.1755-3768.2017.01181

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

Author(s): Nikolas Dovrolis, George Kolios, George M Spyrou, Ioanna Maroulakou
Published in: Briefings in Bioinformatics, 2017, ISSN 1467-5463
DOI: 10.1093/bib/bbx154

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

Author(s): 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
Published in: Journal of Clinical Lipidology, Issue 12/1, 2018, Page(s) 33-43, ISSN 1933-2874
DOI: 10.1016/j.jacl.2017.10.019

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

Author(s): Marilena M. Bourdakou, George M. Spyrou
Published in: BMC Systems Biology, Issue 11/1, 2017, ISSN 1752-0509
DOI: 10.1186/s12918-017-0473-6

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

Author(s): E. Karatzas, M. M. Bourdakou, G. Kolios, G. M. Spyrou
Published in: Scientific Reports, Issue 7/1, 2017, ISSN 2045-2322
DOI: 10.1038/s41598-017-12849-8

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

Author(s): Nicholas E. Protonotarios, George M. Spyrou, George A. Kastis
Published in: Computers in Biology and Medicine, Issue 85, 2017, Page(s) 43-52, ISSN 0010-4825
DOI: 10.1016/j.compbiomed.2017.04.010

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

Author(s): Nikolas Dovrolis, George Kolios, George Spyrou, Ioanna Maroulakou
Published in: Drug Discovery Today, Issue 22/5, 2017, Page(s) 805-813, ISSN 1359-6446
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

Author(s): Eleni Fella, Kleitos Sokratous, Revekka Papacharalambous, Kyriacos Kyriacou, Joy Phillips, Sam Sanderson, Elena Panayiotou, Theodoros Kyriakides
Published in: Frontiers in Molecular Neuroscience, Issue 10, 2017, ISSN 1662-5099
DOI: 10.3389/fnmol.2017.00138

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

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

Author(s): Chrysanthia A. Leontiou, Michael D. Hadjidaniel, Petros Mina, Pavlos Antoniou, Marios Ioannides, Philippos C. Patsalis
Published in: PLOS ONE, Issue 10/8, 2015, Page(s) e0135058, ISSN 1932-6203
DOI: 10.1371/journal.pone.0135058

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

Author(s): D. Koutalianos, A. Koutsoulidou, N. P. Mastroyiannopoulos, D. Furling, L. A. Phylactou
Published in: Journal of Cell Science, Issue 128/19, 2015, Page(s) 3631-3645, ISSN 0021-9533
DOI: 10.1242/jcs.172288

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

Author(s): Vassos Neocleous, Christos Shammas, Marie M. Phelan, Stella Nicolaou, Leonidas A. Phylactou, Nicos Skordis
Published in: Clinical Endocrinology, Issue 84/1, 2016, Page(s) 80-84, ISSN 0300-0664
DOI: 10.1111/cen.12854

Reversal of dilated cardiomyopathy after glucagonoma excision

Author(s): Ozan Demir, Stavroula Paschou, Huw Christopher Ellis, Michael Fitzpatrick, Andreas Kalogeropoulos, Andrew Davies, Jeremy Thompson, Simon Davies, Julia Grapsa
Published in: HORMONES, 2014, ISSN 1109-3099
DOI: 10.14310/horm.2002.1557

Sex-specific age association with primary DNA transfer

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

Oxidative stress in β-thalassaemia and sickle cell disease

Author(s): S. Voskou, M. Aslan, P. Fanis, M. Phylactides, M. Kleanthous
Published in: Redox Biology, Issue 6, 2015, Page(s) 226-239, ISSN 2213-2317
DOI: 10.1016/j.redox.2015.07.018

Beta testing: preclinical genome editing in β-globin disorders

Author(s): Carsten Lederer, Marina Kleanthous
Published in: Cell and Gene Therapy Insights, Issue 1/2, 2015, ISSN 2059-7800
DOI: 10.18609/cgti.2015.021

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

Author(s): MARIA A. LOIZIDOU, ANDREAS HADJISAVVAS, GEORGE A. TANTELES, ELENA SPANOU-ARISTIDOU, KYRIACOS KYRIACOU, VIOLETTA CHRISTOPHIDOU-ANASTASIADOU
Published in: Oncology Letters, Issue 11/1, 2015, Page(s) 471-473, ISSN 1792-1074
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

Author(s): 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
Published in: Oncogene, Issue 35/21, 2016, Page(s) 2766-2776, ISSN 0950-9232
DOI: 10.1038/onc.2015.333

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

Author(s): 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
Published in: Journal of Genetics, Issue 94/4, 2015, Page(s) 749-754, ISSN 0022-1333
DOI: 10.1007/s12041-015-0564-3

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

Author(s): 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
Published in: BMC Biology, Issue 13/1, 2015, ISSN 1741-7007
DOI: 10.1186/s12915-015-0220-7

Aetiology of Acute Respiratory Tract Infections in Hospitalised Children in Cyprus

Author(s): Jan Richter, Christakis Panayiotou, Christina Tryfonos, Dana Koptides, Maria Koliou, Nikolas Kalogirou, Eleni Georgiou, Christina Christodoulou
Published in: PLOS ONE, Issue 11/1, 2016, Page(s) e0147041, ISSN 1932-6203
DOI: 10.1371/journal.pone.0147041

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

Author(s): 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
Published in: JIMD Reports, 2016, Page(s) 23-31, ISSN 2192-8304
DOI: 10.1007/8904_2016_533

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

Author(s): COSTAS KOUFARIS, ANGELOS ALEXANDROU, GEORGE A. TANTELES, VIOLETTA ANASTASIADOU, CAROLINA SISMANI
Published in: Biomedical Reports, Issue 4/2, 2015, Page(s) 215-218, ISSN 2049-9434
DOI: 10.3892/br.2015.559

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

Author(s): Nikos Konstantinou, Eva Pettemeridou, Ioannis Seimenis, Eleni Eracleous, Savvas S. Papacostas, Andrew C. Papanicolaou, Fofi Constantinidou
Published in: Frontiers in Neurology, Issue 7, 2016, ISSN 1664-2295
DOI: 10.3389/fneur.2016.00029

Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy

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

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

Author(s): 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
Published in: Journal of Medical Genetics, Issue 53/5, 2016, Page(s) 298-309, ISSN 0022-2593
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

Author(s): 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
Published in: BMC Research Notes, Issue 9/1, 2016, ISSN 1756-0500
DOI: 10.1186/s13104-016-2002-x

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

Author(s): Christos Shammas, Stefania Byrou, Marie Phelan, Meropi Toumba, Charilaos Stylianou, Nicos Skordis, Vassos Neocleous, Leonidas Phylactou
Published in: HORMONES, 2016, ISSN 1109-3099
DOI: 10.14310/horm.2002.1651

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

Author(s): 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
Published in: Scientific Reports, Issue 6/1, 2016, ISSN 2045-2322
DOI: 10.1038/srep26371

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

Author(s): Costas Koufaris, Suchira Gallage, Tianlai Yang, Chung-Ho Lau, Gabriel N. Valbuena, Hector C. Keun
Published in: Journal of Proteome Research, Issue 15/8, 2016, Page(s) 2618-2625, ISSN 1535-3893
DOI: 10.1021/acs.jproteome.6b00188

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

Author(s): Vassos Neocleous, Christos Shammas, Marie Phelan, Pavlos Fanis, Maria Pantelidou, Nicos Skordis, Christos Mantzoros, Leonidas Phylactou, Meropi Toumba
Published in: HORMONES, 2016, ISSN 1109-3099
DOI: 10.14310/horm.2002.1686

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

Author(s): COSTAS KOUFARIS, ANGELOS ALEXANDROU, IOANNIS PAPAEVRIPIDOU, IOANNA ALEXANDROU, VIOLETTA CHRISTOPHIDOU-ANASTASIADOU, CAROLINA SISMANI
Published in: Journal of Genetics, Issue 95/3, 2016, Page(s) 621-624, ISSN 0022-1333
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

Author(s): Margarita Olympiou, Irene Sargiannidou, Kyriaki Markoullis, Christos Karaiskos, Alexia Kagiava, Styliana Kyriakoudi, Charles K. Abrams, Kleopas A. Kleopa
Published in: Acta Neuropathologica Communications, Issue 4/1, 2016, ISSN 2051-5960
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

Author(s): 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
Published in: Journal of Genetics, Issue 95/4, 2016, Page(s) 839-845, ISSN 0022-1333
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

Author(s): 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
Published in: Genetics Research, Issue 98, 2016, ISSN 1469-5073
DOI: 10.1017/S0016672316000136

Evidence of digenic inheritance in autoinflammation-associated genes

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

Author(s): Panayiotis Kouis, Panayiotis K. Yiallouros, Nicos Middleton, John S. Evans, Kyriacos Kyriacou, Stefania I. Papatheodorou
Published in: Pediatric Research, Issue 81/3, 2017, Page(s) 398-405, ISSN 0031-3998
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

Author(s): 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
Published in: The American Journal of Human Genetics, Issue 99/4, 2016, Page(s) 903-911, ISSN 0002-9297
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

Author(s): 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
Published in: Oncotarget, Issue 7/49, 2016, ISSN 1949-2553
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

Author(s): 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
Published in: Scientific Reports, Issue 6/1, 2016, ISSN 2045-2322
DOI: 10.1038/srep36874

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

Author(s): 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
Published in: Breast Cancer Research, Issue 18/1, 2016, ISSN 1465-542X
DOI: 10.1186/s13058-016-0758-5

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

Author(s): 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
Published in: Genetics in Medicine, Issue 19/5, 2016, Page(s) 599-603, ISSN 1098-3600
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

Author(s): Maria C. Neofytou, Kyriakos Tsangaras, Elena Kypri, Charalambos Loizides, Marios Ioannides, Achilleas Achilleos, Petros Mina, Anna Keravnou, Carolina Sismani, George Koumbaris, Philippos C. Patsalis
Published in: PLOS ONE, Issue 12/2, 2017, Page(s) e0171319, ISSN 1932-6203
DOI: 10.1371/journal.pone.0171319

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

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

Author(s): Christina Votsi, Costas Toufexis, Kyriaki Michailidou, Athos Antoniades, Nicos Skordis, Minas Karaolis, Constantinos Pattichis, Kyproula Christodoulou
Published in: Genes, Issue 8/1, 2017, Page(s) 16, ISSN 2073-4425
DOI: 10.3390/genes8010016

Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model

Author(s): Elena Georgiou, Kyriaki Sidiropoulou, Jan Richter, Christos Papaneophytou, Irene Sargiannidou, Alexia Kagiava, Georg von Jonquieres, Christina Christodoulou, Matthias Klugmann, Kleopas A. Kleopa
Published in: Brain, 2017, Page(s) aww351, ISSN 0006-8950
DOI: 10.1093/brain/aww351

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

Author(s): 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
Published in: Human Molecular Genetics, Issue 26/17, 2017, Page(s) 3285-3302, ISSN 0964-6906
DOI: 10.1093/hmg/ddx212

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

Author(s): 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
Published in: International Journal of Endocrinology, Issue 2017, 2017, Page(s) 1-8, ISSN 1687-8337
DOI: 10.1155/2017/8984365

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

Author(s): Elena Nikiphorou, Vassos Neocleous, Leonidas A. Phylactou, Savvas Psarelis
Published in: Rheumatology, Issue 56/9, 2017, Page(s) 1627-1628, ISSN 1462-0324
DOI: 10.1093/rheumatology/kex180

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

Author(s): Yiolanda-Panayiota Christou, George A. Tanteles, Elena Kkolou, Annita Ormiston, Kostas Konstantopoulos, Maria Beconi, Randall D. Marshall, Horacio Plotkin, Kleopas A. Kleopa
Published in: Case Reports in Neurological Medicine, Issue 2017, 2017, Page(s) 1-6, ISSN 2090-6668
DOI: 10.1155/2017/3247034

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

Author(s): Styliana Kyriakoudi, Irene Sargiannidou, Alexia Kagiava, Margarita Olympiou, Kleopas A. Kleopa
Published in: Human Molecular Genetics, Issue 26/9, 2017, Page(s) 1622-1633, ISSN 0964-6906
DOI: 10.1093/hmg/ddx064

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

Author(s): Alexandros Heraclides, Evy Bashiardes, Eva Fernández-Domínguez, Stefania Bertoncini, Marios Chimonas, Vasilis Christofi, Jonathan King, Bruce Budowle, Panayiotis Manoli, Marios A. Cariolou
Published in: PLOS ONE, Issue 12/6, 2017, Page(s) e0179474, ISSN 1932-6203
DOI: 10.1371/journal.pone.0179474

The “sweet” side of ER-mitochondria contact sites

Author(s): Anthi Demetriadou, Anthi Drousiotou, Petros P. Petrou
Published in: Communicative & Integrative Biology, Issue 10/4, 2017, Page(s) e1329787, ISSN 1942-0889
DOI: 10.1080/19420889.2017.1329787

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

Author(s): 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
Published in: PLOS ONE, Issue 12/9, 2017, Page(s) e0183444, ISSN 1932-6203
DOI: 10.1371/journal.pone.0183444

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

Author(s): Ramona Mögling, Hervé Zeller, Joana Revez, Marion Koopmans, Chantal Reusken
Published in: Eurosurveillance, Issue 22/36, 2017, ISSN 1025-496X
DOI: 10.2807/1560-7917.ES.2017.22.36.30609

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

Author(s): 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
Published in: International Journal of Cancer, Issue 141/9, 2017, Page(s) 1830-1840, ISSN 0020-7136
DOI: 10.1002/ijc.30859

Nipple aspirate fluid-A liquid biopsy for diagnosing breast health

Author(s): Sadr-ul Shaheed, Catherine Tait, Kyriacos Kyriacou, Joanne Mullarkey, Wayne Burrill, Laurence H. Patterson, Richard Linforth, Mohamed Salhab, Chris W. Sutton
Published in: PROTEOMICS - Clinical Applications, Issue 11/9-10, 2017, Page(s) 1700015, ISSN 1862-8346
DOI: 10.1002/prca.201700015

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

Author(s): Nicos Skordis, Eleana Ferrari, Aria Antoniadou, Leonidas A. Phylactou, Pavlos Fanis, Vassos Neocleous
Published in: HORMONES, 2017, ISSN 1109-3099
DOI: 10.14310/horm.2002.1740

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

Author(s): George Charitou, Vlassis Petousis, Charalambos Tsertos, Yannis Parpottas, Marina Kleanthous, Marios Phylactides, Soteroula Christou
Published in: European Biophysics Journal, Issue 47/2, 2018, Page(s) 131-138, ISSN 0175-7571
DOI: 10.1007/s00249-017-1234-6

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

Author(s): 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
Published in: Redox Biology, Issue 13, 2017, Page(s) 94-162, ISSN 2213-2317
DOI: 10.1016/j.redox.2017.05.007

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

Author(s): 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
Published in: Journal of Endocrinological Investigation, Issue 41/10, 2018, Page(s) 1149-1157, ISSN 1720-8386
DOI: 10.1007/s40618-018-0841-0

Selection and Identification of Skeletal-Muscle-Targeted RNA Aptamers

Author(s): Styliana Philippou, Nikolaos P. Mastroyiannopoulos, Neoklis Makrides, Carsten W. Lederer, Marina Kleanthous, Leonidas A. Phylactou
Published in: Molecular Therapy - Nucleic Acids, Issue 10, 2018, Page(s) 199-214, ISSN 2162-2531
DOI: 10.1016/j.omtn.2017.12.004

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

Author(s): 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
Published in: Human Gene Therapy Methods, Issue 29/1, 2018, Page(s) 60-74, ISSN 1946-6536
DOI: 10.1089/hgtb.2017.190

Intrathecal gene therapy in mouse models expressing CMT1X mutations

Author(s): A Kagiava, C Karaiskos, J Richter, C Tryfonos, G Lapathitis, I Sargiannidou, C Christodoulou, K A Kleopa
Published in: Human Molecular Genetics, Issue 27/8, 2018, Page(s) 1460-1473, ISSN 0964-6906
DOI: 10.1093/hmg/ddy056

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

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

Author(s): Stefania Byrou, G. Mike Makrigiorgos, Agathoklis Christofides, Ioannis Kallikas, Thessalia Papasavva, Marina Kleanthous
Published in: PLOS ONE, Issue 13/7, 2018, Page(s) e0200348, ISSN 1932-6203
DOI: 10.1371/journal.pone.0200348

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

Author(s): Andreas Syrimis, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Michael Nicolaou, Eleni Loukianou, Violetta Christophidou-Anastasiadou, Stavros Malas, Carolina Sismani, George A. Tanteles
Published in: Journal of Genetics, Issue 97/2, 2018, Page(s) 555-562, ISSN 0022-1333
DOI: 10.1007/s12041-018-0925-9

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

Author(s): Constantia Aristidou, Athina Theodosiou, Andria Ketoni, Mads Bak, Mana M. Mehrjouy, Niels Tommerup, Carolina Sismani
Published in: Molecular Cytogenetics, Issue 11/1, 2018, ISSN 1755-8166
DOI: 10.1186/s13039-018-0384-2

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

Author(s): Andreas Syrimis, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Michael Nicolaou, Eleni Loukianou, Carolina Sismani, Stavros Malas, Violetta Christophidou‑Anastasiadou, George Tanteles
Published in: Molecular Medicine Reports, 2018, ISSN 1791-2997
DOI: 10.3892/mmr.2018.9126

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

Author(s): 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
Published in: PLOS ONE, Issue 13/6, 2018, Page(s) e0199010, ISSN 1932-6203
DOI: 10.1371/journal.pone.0199010

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

Author(s): Anna Minaidou, Paschalis Nicolaou, Kyproula Christodoulou
Published in: Cell Journal, 2018, ISSN 2228-5806
DOI: 10.22074/cellj.2018.5352

Carpal Tunnel Syndrome

Author(s): Kleopas A. Kleopa
Published in: Annals of Internal Medicine, Issue 163/5, 2015, Page(s) ITC1, ISSN 0003-4819
DOI: 10.7326/AITC201509010

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

Author(s): Maria G. Kakkoura, Christiana A. Demetriou, Maria A. Loizidou, Giorgos Loucaides, Ioanna Neophytou, Simon Malas, Kyriacos Kyriacou, Andreas Hadjisavvas
Published in: European Journal of Nutrition, Issue 55/4, 2016, Page(s) 1535-1544, ISSN 1436-6207
DOI: 10.1007/s00394-015-0971-5

Dementia caregiver burden association with community participation aspect of social capital

Author(s): Evridiki Papastavrou, Panayiota Andreou, Nicos Middleton, Haritini Tsangari, Savvas Papacostas
Published in: Journal of Advanced Nursing, Issue 71/12, 2015, Page(s) 2898-2910, ISSN 0309-2402
DOI: 10.1111/jan.12762

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

Author(s): Michele A. Gatheridge, Jennifer M. Kwon, Jerry M. Mendell, Günter Scheuerbrandt, Stuart J. Moat, François Eyskens, Cheryl Rockman-Greenberg, Anthi Drousiotou, Robert C. Griggs
Published in: JAMA Neurology, Issue 73/1, 2016, Page(s) 111, ISSN 2168-6149
DOI: 10.1001/jamaneurol.2015.3537

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

Author(s): 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
Published in: Journal of Neuroimmunology, Issue 292, 2016, Page(s) 108-115, ISSN 0165-5728
DOI: 10.1016/j.jneuroim.2016.01.018

Cognitive-Linguistic Performance and Quality of Life in Healthy Aging

Author(s): Fofi Constantinidou, Juliana Prokopiou, Maria Nikou, Savvas Papacostas
Published in: Folia Phoniatrica et Logopaedica, Issue 67/3, 2016, Page(s) 145-155, ISSN 1021-7762
DOI: 10.1159/000440835

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

Author(s): Gabriela E. Jones, Lisa Robertson, Amit Maniyar, Christos Shammas, Marie M. Phelan, Pradeep C. Vasudevan, George A. Tanteles
Published in: American Journal of Medical Genetics Part A, Issue 170/3, 2016, Page(s) 754-759, ISSN 1552-4825
DOI: 10.1002/ajmg.a.37511

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

Author(s): Eleftherios S. Papathanasiou
Published in: Clinical Neurophysiology, Issue 127/6, 2016, Page(s) 2520-2521, ISSN 1388-2457
DOI: 10.1016/j.clinph.2016.03.004

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

Author(s): Costas Koufaris
Published in: BioEssays, Issue 38/3, 2016, Page(s) 286-294, ISSN 0265-9247
DOI: 10.1002/bies.201500135

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

Author(s): 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
Published in: Clinical Chemistry and Laboratory Medicine (CCLM), Issue 54/12, 2016, ISSN 1434-6621
DOI: 10.1515/cclm-2016-0125

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

Author(s): 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
Published in: British Journal of Haematology, Issue 180/1, 2018, Page(s) 160-164, ISSN 0007-1048
DOI: 10.1111/bjh.14294

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

Author(s): Carsten W. Lederer, Eleni Pavlou, George A. Tanteles, Paola Evangelidou, Carolina Sismani, Annita Kolnagou, Maria Sitarou, Soteroulla Christou, Michael Hadjigavriel, Marina Kleanthous
Published in: Hematology, Issue 22/5, 2016, Page(s) 304-309, ISSN 1607-8454
DOI: 10.1080/10245332.2016.1265043

Genomic and genetic studies of systemic sclerosis: A systematic review

Author(s): Paraskevi Chairta, Paschalis Nicolaou, Kyproula Christodoulou
Published in: Human Immunology, Issue 78/2, 2017, Page(s) 153-165, ISSN 0198-8859
DOI: 10.1016/j.humimm.2016.10.017

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

Author(s): 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
Published in: Clinical Genetics, Issue 91/4, 2017, Page(s) 611-615, ISSN 0009-9163
DOI: 10.1111/cge.12886

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

Author(s): Christina Hadjichristou, Violetta Christophidou-Anastasiadou, Athina Bakopoulou, George Tanteles, Maria Loizidou, Kyriacos Kyriacou, Andreas Hadjisavvas, Konstantinos Michalakis, Argyris Pissiotis, Petros Koidis
Published in: The International Journal of Prosthodontics, Issue 30/3, 2017, Page(s) 280-285, ISSN 0893-2174
DOI: 10.11607/ijp.5130

A novel MKRN3 nonsense mutation causing familial central precocious puberty

Author(s): Athanasios Christoforidis, Nicos Skordis, Pavlos Fanis, Meropi Dimitriadou, Maria Sevastidou, Marie M. Phelan, Vassos Neocleous, Leonidas A. Phylactou
Published in: Endocrine, Issue 56/2, 2017, Page(s) 446-449, ISSN 1355-008X
DOI: 10.1007/s12020-017-1232-6

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

Author(s): Eleni Vrontaki, Georgia Melagraki, Stella Voskou, Marios Phylactides, Thomas Mavromoustakos, Marina Kleanthous, Antreas Afantitis
Published in: Mini-Reviews in Medicinal Chemistry, Issue 17/3, 2017, Page(s) 188-204, ISSN 1389-5575
DOI: 10.2174/1389557516999160629101709

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

Author(s): 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
Published in: Cytotherapy, Issue 19/2, 2017, Page(s) 311-326, ISSN 1465-3249
DOI: 10.1016/j.jcyt.2016.11.007

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

Author(s): Christiana A. Demetriou, Petros M. Hadjivasiliou, Kleopas A. Kleopa, Yiolanda P. Christou, Eleni Leonidou, Theodoros Kyriakides, Eleni Zamba-Papanicolaou
Published in: Neuroepidemiology, Issue 48/1-2, 2017, Page(s) 79-85, ISSN 0251-5350
DOI: 10.1159/000477126

A quantitative method for the assessment of dysarthrophonia in myasthenia gravis

Author(s): Kostas Konstantopoulos, Yiolanda-Panayiota Christou, Paris Vogazianos, Eleni Zamba-Papanicolaou, Kleopas A. Kleopa
Published in: Journal of the Neurological Sciences, Issue 377, 2017, Page(s) 42-46, ISSN 0022-510X
DOI: 10.1016/j.jns.2017.03.045

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

Author(s): Maria N. Anastasiadou, Manolis Christodoulakis, Eleftherios S. Papathanasiou, Savvas S. Papacostas, Georgios D. Mitsis
Published in: Clinical Neurophysiology, Issue 128/9, 2017, Page(s) 1755-1769, ISSN 1388-2457
DOI: 10.1016/j.clinph.2017.06.247

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

Author(s): Evangelos C. Karademas, Maria Karekla, Magdalini Flouri, Vasilis S. Vasiliou, Orestis Kasinopoulos, Savvas S. Papacostas
Published in: Psychology & Health, 2017, Page(s) 1-16, ISSN 0887-0446
DOI: 10.1080/08870446.2017.1346193

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

Author(s): C.A. Demetriou, A. Heraclides, C. Salafori, G.A. Tanteles, K. Christodoulou, Y. Christou, E. Zamba-Papanicolaou
Published in: Clinical Genetics, Issue 93/3, 2018, Page(s) 656-664, ISSN 0009-9163
DOI: 10.1111/cge.13168

Recommendations for enterovirus diagnostics and characterisation within and beyond Europe

Author(s): 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
Published in: Journal of Clinical Virology, Issue 101, 2018, Page(s) 11-17, ISSN 1386-6532
DOI: 10.1016/j.jcv.2018.01.008

De novo unbalanced translocations have a complex history/aetiology

Author(s): 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,
Published in: Human Genetics, Issue 137/10, 2018, Page(s) 817-829, ISSN 0340-6717
DOI: 10.1007/s00439-018-1941-9

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

Author(s): Kostas Konstantopoulos, Eleni Zamba-Papanicolaou, Kyproula Christodoulou
Published in: Neurological Sciences, Issue 39/9, 2018, Page(s) 1547-1550, ISSN 1590-1874
DOI: 10.1007/s10072-018-3453-8

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

Author(s): Savvas Dalitis, Natalia Filippidou, George Krashias, Christina Christodoulou, Marios Pantzaris, Anastasia Lambrianides
Published in: Journal of Clinical Neuroscience, Issue 54, 2018, Page(s) 63-68, ISSN 0967-5868
DOI: 10.1016/j.jocn.2018.06.004

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

Author(s): 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
Published in: International Journal of Epidemiology, 2018, ISSN 0300-5771
DOI: 10.1093/ije/dyy201

Two unrelated individuals carrying rare mosaic deletions in TCF4 gene

Author(s): Ludmila Kousoulidou, Angelos Alexandrou, Ioannis Papaevripidou, Paola Evangelidou, George Tanteles, Violetta C. Anastasiadou, Carolina Sismani
Published in: American Journal of Medical Genetics Part A, Issue 179/1, 2019, Page(s) 134-138, ISSN 1552-4825
DOI: 10.1002/ajmg.a.60692

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

Author(s): 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
Published in: Amyloid, Issue 25/4, 2018, Page(s) 220-226, ISSN 1350-6129
DOI: 10.1080/13506129.2018.1534731

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

Author(s): Anna Malekkou, Maura Samarani, Anthi Drousiotou, Christina Votsi, Sandro Sonnino, Marios Pantzaris, Elena Chiricozzi, Eleni Zamba-Papanicolaou, Massimo Aureli, Nicoletta Loberto, Kyproula Christodoulou
Published in: International Journal of Molecular Sciences, Issue 19/10, 2018, Page(s) 3099, ISSN 1422-0067
DOI: 10.3390/ijms19103099

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

Author(s): 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
Published in: PLOS ONE, Issue 13/10, 2018, Page(s) e0205298, ISSN 1932-6203
DOI: 10.1371/journal.pone.0205298

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

Author(s): 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
Published in: Nanomedicine: Nanotechnology, Biology and Medicine, Issue 18, 2019, Page(s) 391-401, ISSN 1549-9634
DOI: 10.1016/j.nano.2018.10.014

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

Author(s): Anna Keravnou, Evy Bashiardes, Kyriaki Michailidou, Marinos Soteriou, Areti Moushi, Marios Cariolou
Published in: BMC Medical Genetics, Issue 19/1, 2018, ISSN 1471-2350
DOI: 10.1186/s12881-018-0728-0

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

Author(s): Vassos Neocleous, Pavlos Fanis, Leonidas A. Phylactou, Nicos Skordis
Published in: Frontiers in Endocrinology, Issue 9, 2018, ISSN 1664-2392
DOI: 10.3389/fendo.2018.00733

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

Author(s): 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,
Published in: JCO Precision Oncology, Issue 2, 2018, Page(s) 1-42, ISSN 2473-4284
DOI: 10.1200/po.18.00091

Electrophysiological testing in concussion: A guide to clinical applications

Author(s): Eleftherios S Papathanasiou, Thomas Cronin, Barry Seemungal, Jaswinder Sandhu
Published in: Journal of Concussion, Issue 2, 2018, Page(s) 205970021881263, ISSN 2059-7002
DOI: 10.1177/2059700218812634

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

Author(s): Neoklis Makrides, Elena Panayiotou, Pavlos Fanis, Christos Karaiskos, George Lapathitis, Stavros Malas
Published in: Frontiers in Molecular Neuroscience, Issue 11, 2018, ISSN 1662-5099
DOI: 10.3389/fnmol.2018.00152

Regulatory role of oligodendrocyte gap junctions in inflammatory demyelination

Author(s): Christos P. Papaneophytou, Elena Georgiou, Christos Karaiskos, Irene Sargiannidou, Kyriaki Markoullis, Mona M. Freidin, Charles K. Abrams, Kleopas A. Kleopa
Published in: Glia, Issue 66/12, 2018, Page(s) 2589-2603, ISSN 0894-1491
DOI: 10.1002/glia.23513

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

Author(s): Elie Deeba, Dana Koptides, Efthychia Gaglia, Astero Constantinou, Anastasia Lambrianides, Marios Pantzaris, Georges Krashias, Christina Christodoulou
Published in: Molecular Immunology, Issue 105, 2019, Page(s) 270-275, ISSN 0161-5890
DOI: 10.1016/j.molimm.2018.12.010

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

Author(s): Anna Minaidou, Paschalis Nicolaou, Kyproula Christodoulou
Published in: PLOS ONE, Issue 14/2, 2019, Page(s) e0211814, ISSN 1932-6203
DOI: 10.1371/journal.pone.0211814

De novo mosaic MECP2 mutation in a female with Rett syndrome

Author(s): Angelos Alexandrou, Ioannis Papaevripidou, Ioanna Maria Alexandrou, Athina Theodosiou, Paola Evangelidou, Ludmila Kousoulidou, George Tanteles, Violetta Christophidou-Anastasiadou, Carolina Sismani
Published in: Clinical Case Reports, Issue 7/2, 2019, Page(s) 366-370, ISSN 2050-0904
DOI: 10.1002/ccr3.1985

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

Author(s): Efthimios Dardiotis, Elena Panayiotou, Vasileios Siokas, Athina-Maria Aloizou, Kyproula Christodoulou, Andreas Hadjisavvas, Marios Pantzaris, Nikolaos Grigoriadis, Georgios M. Hadjigeorgiou, Theodoros Kyriakides
Published in: Neurology Genetics, Issue 5/1, 2019, Page(s) e304, ISSN 2376-7839
DOI: 10.1212/nxg.0000000000000304

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

Author(s): Eleftherios Stelios Papathanasiou, Stelios Georgiades, Savvas Symeon Papacostas
Published in: Journal of Pediatric Epilepsy, Issue 08/01, 2019, Page(s) 011-014, ISSN 2146-457X
DOI: 10.1055/s-0039-1677788

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

Author(s): Johan Zelano, Judith Klecki, Jakob Christensen, Torbjörn Tomson, Kristina Malmgren
Published in: Epilepsia Open, Issue 4/1, 2019, Page(s) 144-152, ISSN 2470-9239
DOI: 10.1002/epi4.12306

Theranostics of Genetic Diseases

Author(s): Roberto Gambari, Marina Kleanthous
Published in: Molecular Diagnosis & Therapy, Issue 23/2, 2019, Page(s) 153-154, ISSN 1177-1062
DOI: 10.1007/s40291-019-00395-0

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

Author(s): Panayiota Papasavva, Marina Kleanthous, Carsten W. Lederer
Published in: Molecular Diagnosis & Therapy, Issue 23/2, 2019, Page(s) 201-222, ISSN 1177-1062
DOI: 10.1007/s40291-019-00392-3

Disruptive Technology: CRISPR/Cas-Based Tools and Approaches

Author(s): Petros Patsali, Marina Kleanthous, Carsten W. Lederer
Published in: Molecular Diagnosis & Therapy, Issue 23/2, 2019, Page(s) 187-200, ISSN 1177-1062
DOI: 10.1007/s40291-019-00391-4

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

Author(s): 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
Published in: British Journal of Haematology, Issue 183/4, 2018, Page(s) 648-660, ISSN 0007-1048
DOI: 10.1111/bjh.15600

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

Author(s): 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
Published in: Human Gene Therapy, Issue 30/5, 2019, Page(s) 601-617, ISSN 1043-0342
DOI: 10.1089/hum.2018.022

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

Author(s): Vassos Neocleous, Pavlos Fanis, Feride Cinarli, Vasilis Kokotsis, Anastasios Oulas, Meropi Toumba, George M. Spyrou, Leonidas A. Phylactou, Nicos Skordis
Published in: Hormones, Issue 18/3, 2019, Page(s) 315-320, ISSN 1109-3099
DOI: 10.1007/s42000-019-00116-6

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

Author(s): Pavlos Fanis, Elisavet Efstathiou, Vassos Neocleous, Leonidas A. Phylactou, Adamos Hadjipanayis
Published in: Journal of Genetics, Issue 98/1, 2019, ISSN 0022-1333
DOI: 10.1007/s12041-019-1056-7

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

Author(s): 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
Published in: Annals of Neurology, Issue 86/2, 2019, Page(s) 225-240, ISSN 0364-5134
DOI: 10.1002/ana.25524

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

Author(s): Pavlos P. Kafouris, Iosif P. Koutagiar, Alexandros T. Georgakopoulos, Nikoletta K. Pianou, Marinos G. Metaxas, George M. Spyrou, Constantinos D. Anagnostopoulos
Published in: The International Journal of Cardiovascular Imaging, Issue 35/5, 2019, Page(s) 955-964, ISSN 1569-5794
DOI: 10.1007/s10554-018-01514-4

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

Author(s): Maria Gazouli, Nikolas Dovrolis, Andre Franke, George M. Spyrou, Leonardo A. Sechi, George Kolios
Published in: Gut Pathogens, Issue 11/1, 2019, ISSN 1757-4749
DOI: 10.1186/s13099-019-0312-y

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

Author(s): 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
Published in: Nephrology Dialysis Transplantation, Issue 34/10, 2019, Page(s) 1780-1788, ISSN 0931-0509
DOI: 10.1093/ndt/gfz021

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

Author(s): Panayiotis K. Yiallouros, Panayiotis Kouis, Panayiota Pirpa, Kyriaki Michailidou, Maria A. Loizidou, Louiza Potamiti, Margarita Kalyva, Giorgos Koutras, Kyriacos Kyriacou, Andreas Hadjisavvas
Published in: Journal of Thoracic Disease, Issue 11/5, 2019, Page(s) 2067-2075, ISSN 2072-1439
DOI: 10.21037/jtd.2019.04.71

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

Author(s): Maria N. Anastasiadou, Manolis Christodoulakis, Eleftherios S. Papathanasiou, Savvas S. Papacostas, Avgis Hadjipapas, Georgios D. Mitsis
Published in: Frontiers in Neuroscience, Issue 13, 2019, ISSN 1662-453X
DOI: 10.3389/fnins.2019.00221

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

Author(s): 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
Published in: The American Journal of Human Genetics, Issue 105/2, 2019, Page(s) 267-282, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2019.05.020

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

Author(s): Charalambos Yiannakkaras,Nikos Konstantinou, Fofi Constantinidou, Eva Pettemeridou, Eleni Eracleous, Savvas S. Papacostas, Ioannis Seimenis
Published in: Journal of Integrative Neuroscience, Issue 18/2, 2019, Page(s) 95, ISSN 1757-448X
DOI: 10.31083/j.jin.2019.02.144

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Author(s): 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,
Published in: Nature Communications, Issue 10/1, 2019, ISSN 2041-1723
DOI: 10.1038/s41467-019-10910-w

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

Author(s): Natalia Filippidou, George Krashias, Christina Christodoulou, Marios Pantzaris, Anastasia Lambrianides
Published in: Journal of Immunological Methods, Issue 474, 2019, Page(s) 112663, ISSN 0022-1759
DOI: 10.1016/j.jim.2019.112663

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

Author(s): Elie Deeba, Dana Koptides, Anastasia Lambrianides, Marios Pantzaris, George Krashias, Christina Christodoulou
Published in: Multiple Sclerosis and Related Disorders, Issue 33, 2019, Page(s) 100-106, ISSN 2211-0348
DOI: 10.1016/j.msard.2019.05.027

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

Author(s): 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
Published in: Human Molecular Genetics, Issue 28/21, 2019, Page(s) 3528-3542, ISSN 0964-6906
DOI: 10.1093/hmg/ddz199

Molecular epidemiology of enteroviruses in Cyprus 2008-2017

Author(s): Jan Richter, Christina Tryfonos, Christina Christodoulou
Published in: PLOS ONE, Issue 14/8, 2019, Page(s) e0220938, ISSN 1932-6203
DOI: 10.1371/journal.pone.0220938

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

Author(s): Stephanie Christoforou, Kyproula Christodoulou, Violetta Anastasiadou, Paola Nicolaides
Published in: European Journal of Medical Genetics, Issue 63/3, 2020, Page(s) 103765, ISSN 1769-7212
DOI: 10.1016/j.ejmg.2019.103765

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

Author(s): 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
Published in: Journal of Medical Genetics, Issue 57/3, 2020, Page(s) 178-186, ISSN 0022-2593
DOI: 10.1136/jmedgenet-2019-106108

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Author(s): 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
Published in: Brain, Issue 142/10, 2019, Page(s) 2948-2964, ISSN 0006-8950
DOI: 10.1093/brain/awz248

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

Author(s): 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
Published in: Neurology Research International, Issue 2019, 2019, Page(s) 1-5, ISSN 2090-1852
DOI: 10.1155/2019/3741260

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

Author(s): George Charitou, Charalambos Tsertos, Yannis Parpottas, Marina Kleanthous, Carsten W. Lederer, Marios Phylactides
Published in: European Biophysics Journal, Issue 48/7, 2019, Page(s) 635-643, ISSN 0175-7571
DOI: 10.1007/s00249-019-01389-w

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

Author(s): Stella Voskou, Marios Phylactides, Andreas Afantitis, Georgia Melagraki, Andreas Tsoumanis, Panayotis A. Koutentis, Tina Mitsidi, Styliana I. Mirallai, Marina Kleanthous
Published in: Hemoglobin, Issue 43/2, 2019, Page(s) 116-121, ISSN 0363-0269
DOI: 10.1080/03630269.2019.1626740

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

Author(s): Pavlos Fanis, Ioanna Kousiappa, Marios Phylactides, Andreani Kyrri, Michael Hadjigavriel, Soteroula Christou, Maria Sitarou, Marina Kleanthous
Published in: Human Mutation, Issue 40/10, 2019, Page(s) 1768-1780, ISSN 1059-7794
DOI: 10.1002/humu.23817

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

Author(s): 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
Published in: Haematologica, Issue 104/11, 2019, Page(s) e497-e501, ISSN 0390-6078
DOI: 10.3324/haematol.2018.215178

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

Author(s): 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
Published in: International Journal of Cancer, Issue 146/8, 2019, Page(s) 2130-2138, ISSN 0020-7136
DOI: 10.1002/ijc.32542

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

Author(s): 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
Published in: Hormone and Metabolic Research, Issue 51/09, 2019, Page(s) 586-594, ISSN 0018-5043
DOI: 10.1055/a-0957-3297

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

Author(s): Melina Christou, Jesper Wengel, Kleitos Sokratous, Kyriacos Kyriacou, Georgios Nikolaou, Leonidas A. Phylactou, Nikolaos P. Mastroyiannopoulos
Published in: Nucleic Acid Therapeutics, Issue 30/2, 2020, Page(s) 80-93, ISSN 2159-3337
DOI: 10.1089/nat.2019.0811

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

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

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

Author(s): Ekatherine Prokopiou, Panagiotis Kolovos, Christos Georgiou, Maria Kalogerou, Louiza Potamiti, Kleitos Sokratous, Kyriacos Kyriacou, Tassos Georgiou
Published in: BMJ Open Ophthalmology, Issue 4/1, 2019, Page(s) e000326, ISSN 2397-3269
DOI: 10.1136/bmjophth-2019-000326

A Deep Learning Framework for Predicting Response to Therapy in Cancer

Author(s): 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
Published in: Cell Reports, Issue 29/11, 2019, Page(s) 3367-3373.e4, ISSN 2211-1247
DOI: 10.1016/j.celrep.2019.11.017

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

Author(s): 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,
Published in: Human Mutation, Issue 40/11, 2019, ISSN 1059-7794
DOI: 10.1002/humu.23842

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

Author(s): 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
Published in: npj Breast Cancer, Issue 5/1, 2019, ISSN 2374-4677
DOI: 10.1038/s41523-019-0127-5

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

Author(s): 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
Published in: Frontiers in Neurology, Issue 10, 2019, ISSN 1664-2295
DOI: 10.3389/fneur.2019.01047

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

Author(s): Valery N. Kozhevnikov, Michael E. Deary, Theodora Mantso, Mihalis I. Panayiotidis, Mark T. Sims
Published in: Chemical Communications, Issue 55/95, 2019, Page(s) 14283-14286, ISSN 1359-7345
DOI: 10.1039/c9cc06828g

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

Author(s): Pavlos P. Kafouris, Iosif P. Koutagiar, Alexandros T. Georgakopoulos, George M. Spyrou, Dimitrios Visvikis, Constantinos D. Anagnostopoulos
Published in: Journal of Nuclear Cardiology, 2019, ISSN 1071-3581
DOI: 10.1007/s12350-019-01943-1

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

Author(s): Petros Patsali, Claudio Mussolino, Petros Ladas, Argyro Floga, Annita Kolnagou, Soteroula Christou, Maria Sitarou, Michael N. Antoniou, Toni Cathomen, Carsten Werner Lederer, Marina Kleanthous
Published in: Journal of Clinical Medicine, Issue 8/11, 2019, Page(s) 1959, ISSN 2077-0383
DOI: 10.3390/jcm8111959

Genetic Modifiers at the Crossroads of Personalised Medicine for Haemoglobinopathies

Author(s): Coralea Stephanou, Stella Tamana, Anna Minaidou, Panayiota Papasavva, Marina Kleanthous, Petros Kountouris
Published in: Journal of Clinical Medicine, Issue 8/11, 2019, Page(s) 1927, ISSN 2077-0383
DOI: 10.3390/jcm8111927

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

Author(s): 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,
Published in: Genetic Epidemiology, 2020, ISSN 0741-0395
DOI: 10.1002/gepi.22288

Risk factors for breast cancer brain metastases: a systematic review

Author(s): 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
Published in: Oncotarget, Issue 11/6, 2020, ISSN 1949-2553
DOI: 10.18632/oncotarget.27453

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

Author(s): Georgia-Persephoni Voulgaridou, Ilias Tsochantaridis, Christos Tolkas, Rodrigo Franco, Alexandra Giatromanolaki, Mihalis I. Panayiotidis, Aglaia Pappa
Published in: Free Radical Biology and Medicine, Issue 150, 2020, Page(s) 66-74, ISSN 0891-5849
DOI: 10.1016/j.freeradbiomed.2020.01.183

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

Author(s): Pinelopi S. Stavrinou, Eleni Andreou, George Aphamis, Marios Pantzaris, Melina Ioannou, Ioannis S. Patrikios, Christoforos D. Giannaki
Published in: Nutrients, Issue 12/2, 2020, Page(s) 325, ISSN 2072-6643
DOI: 10.3390/nu12020325

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

Author(s): Georgios D. Mitsis, Maria N. Anastasiadou, Manolis Christodoulakis, Eleftherios S. Papathanasiou, Savvas S. Papacostas, Avgis Hadjipapas
Published in: Human Brain Mapping, Issue 41/8, 2020, Page(s) 2059-2076, ISSN 1065-9471
DOI: 10.1002/hbm.24930

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

Author(s): Andria Theodorou, Marios Phylactides, Eleni Katsantoni, Kostas Vougas, Spyros D. Garbis, Pavlos Fanis, Maria Sitarou, Swee Lay Thein, Marina Kleanthous
Published in: Journal of Clinical Medicine, Issue 9/1, 2020, Page(s) 134, ISSN 2077-0383
DOI: 10.3390/jcm9010134

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

Author(s): Anna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, Theodoros Georgiou, Lluisa Vilageliu, Marina Moraitou, Helen Michelakakis, Chrystalla Prokopiou, Anthi Drousiotou
Published in: Molecular Genetics & Genomic Medicine, Issue 8/3, 2020, ISSN 2324-9269
DOI: 10.1002/mgg3.1090

European lipodystrophy registry: background and structure

Author(s): 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
Published in: Orphanet Journal of Rare Diseases, Issue 15/1, 2020, ISSN 1750-1172
DOI: 10.1186/s13023-020-1295-y

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

Author(s): Veronica Montesinos-Cruz, Jordan Rose, Aglaia Pappa, Mihalis I. Panayiotidis, Andrea De Vizcaya-Ruiz, Rodrigo Franco
Published in: Chemical Research in Toxicology, Issue 33/2, 2019, Page(s) 536-552, ISSN 0893-228X
DOI: 10.1021/acs.chemrestox.9b00398

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

Author(s): Evangelos Karatzas, Juan Eiros Zamora, Emmanouil Athanasiadis, Dimitris Dellis, Zoe Cournia, George M Spyrou
Published in: Bioinformatics, Issue 36/8, 2020, Page(s) 2602-2604, ISSN 1367-4803
DOI: 10.1093/bioinformatics/btz976

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

Author(s): 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
Published in: Nature Genetics, Issue 52/1, 2020, Page(s) 56-73, ISSN 1061-4036
DOI: 10.1038/s41588-019-0537-1

Chromatin interactome mapping at 139 independent breast cancer risk signals

Author(s): 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
Published in: Genome Biology, Issue 21/1, 2020, ISSN 1474-760X
DOI: 10.1186/s13059-019-1877-y

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

Author(s): 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
Published in: Neurological Sciences, Issue 41/5, 2020, Page(s) 1163-1170, ISSN 1590-1874
DOI: 10.1007/s10072-019-04176-9

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

Author(s): Kalia Kyriakou, Carsten W. Lederer, Marina Kleanthous, Anthi Drousiotou, Anna Malekkou
Published in: International Journal of Molecular Sciences, Issue 21/5, 2020, Page(s) 1607, ISSN 1422-0067
DOI: 10.3390/ijms21051607

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

Author(s): Areti Moushi, Kyriaki Michailidou, Marinos Soteriou, Marios Cariolou, Evy Bashiardes
Published in: Biomarkers, Issue 23/3, 2017, Page(s) 253-264, ISSN 1354-750X
DOI: 10.1080/1354750x.2018.1423704

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

Author(s): Rena Papachristoforou, Petros P. Petrou, Hilary Sawyer, Maggie Williams, Anthi Drousiotou
Published in: Annals of Human Genetics, Issue 83/5, 2019, Page(s) 291-298, ISSN 0003-4800
DOI: 10.1111/ahg.12318

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

Author(s): 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
Published in: Case Reports in Genetics, Issue 2016, 2016, Page(s) 1-6, ISSN 2090-6544
DOI: 10.1155/2016/5208312

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

Author(s): Jan Richter, Christina Tryfonos, Aristomenis Tourvas, Dora Floridou, Niki I. Paphitou, Christina Christodoulou
Published in: Genome Announcements, Issue 5/43, 2017, ISSN 2169-8287
DOI: 10.1128/genomea.01110-17

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

Author(s): Christina Pavloudi, Jon B. Kristoffersen, Anastasis Oulas, Marleen De Troch, Christos Arvanitidis
Published in: PeerJ, Issue 5, 2017, Page(s) e3687, ISSN 2167-8359
DOI: 10.7717/peerj.3687

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

Author(s): Leonidas Phylactou
Published in: Molecules, Issue 20/7, 2015, Page(s) 12944-12945, ISSN 1420-3049
DOI: 10.3390/molecules200712944

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

Author(s): Kyriakos Tsangaras, Jens Mayer, David Alquezar-Planas, Alex Greenwood
Published in: Viruses, Issue 7/11, 2015, Page(s) 6089-6107, ISSN 1999-4915
DOI: 10.3390/v7112927

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

Author(s): Maria G. Kakkoura, Maria A. Loizidou, Christiana A. Demetriou, Giorgos Loucaides, Maria Daniel, Kyriacos Kyriacou, Andreas Hadjisavvas
Published in: European Journal of Nutrition, Issue 56/2, 2017, Page(s) 545-555, ISSN 1436-6207
DOI: 10.1007/s00394-015-1099-3

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

Author(s): C. Ruffmann, F. C. F. Calboli, I. Bravi, D. Gveric, L. K. Curry, A. de Smith, S. Pavlou, J. L. Buxton, A. I. F. Blakemore, P. Takousis, S. Molloy, P. Piccini, D. T. Dexter, F. Roncaroli, S. M. Gentleman, L. T. Middleton
Published in: Neuropathology and Applied Neurobiology, Issue 42/5, 2016, Page(s) 436-450, ISSN 0305-1846
DOI: 10.1111/nan.12294

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

Author(s): 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
Published in: Clinical Cancer Research, Issue 22/6, 2016, Page(s) 1413-1420, ISSN 1078-0432
DOI: 10.1158/1078-0432.ccr-15-1080

Evolution of GLUD2 Glutamate Dehydrogenase Allows Expression in Human Cortical Neurons

Author(s): Cleanthe Spanaki, Dimitra Kotzamani, Kleopas Kleopa, Andreas Plaitakis
Published in: Molecular Neurobiology, Issue 53/8, 2016, Page(s) 5140-5148, ISSN 0893-7648
DOI: 10.1007/s12035-015-9429-2

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

Author(s): George A. Tanteles, Michael Nicolaou, Nasia Patsia, Turem Delikurt-Tuncalp, Elena Spanou-Aristidou, Eleni Leonidou, Theodoros Kyriakides, Violetta Christophidou-Anastasiadou
Published in: European Journal of Dermatology, Issue 25/5, 2015, Page(s) 495-496, ISSN 1167-1122
DOI: 10.1684/ejd.2015.2615

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

Author(s): 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
Published in: Journal of Biomedical Materials Research Part A, Issue 104/1, 2016, Page(s) 227-238, ISSN 1549-3296
DOI: 10.1002/jbm.a.35560

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

Author(s): Costas Koufaris, Angelos Alexandrou, Carolina Sismani, Nicos Skordis
Published in: HORMONES, 2015, ISSN 1109-3099
DOI: 10.14310/horm.2002.1604

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

Author(s): Antonis Ververis, Andri Christodoulou, Maria Christoforou, Christina Kamilari, Carsten W. Lederer, Niovi Santama
Published in: Cellular and Molecular Life Sciences, Issue 73/1, 2016, Page(s) 163-184, ISSN 1420-682X
DOI: 10.1007/s00018-015-1980-5

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

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

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

Author(s): Eleftherios S. Papathanasiou
Published in: Clinical Neurophysiology, Issue 126/10, 2015, Page(s) 1843-1844, ISSN 1388-2457
DOI: 10.1016/j.clinph.2015.01.007

Genetic background modifies amyloidosis in a mouse model of ATTR neuropathy

Author(s): E. Panayiotou, R. Papacharalambous, A. Antoniou, G. Christophides, L. Papageorgiou, E. Fella, S. Malas, T. Kyriakides
Published in: Biochemistry and Biophysics Reports, Issue 8, 2016, Page(s) 48-54, ISSN 2405-5808
DOI: 10.1016/j.bbrep.2016.08.005

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

Author(s): 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
Published in: Frontiers in Molecular Neuroscience, Issue 9, 2016, ISSN 1662-5099
DOI: 10.3389/fnmol.2016.00145

Seqenv : linking sequences to environments through text mining

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

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

Author(s): Eleftherios S. Papathanasiou
Published in: Clinical Neurophysiology, Issue 128/1, 2017, Page(s) 260-261, ISSN 1388-2457
DOI: 10.1016/j.clinph.2016.11.011

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

Author(s): Eleni Varda, Christiana A. Demetriou, Alexandros Heraclides, Yiolanda P. Christou, Eleni Zamba-Papanicolaou
Published in: PLoS Currents, 2016, ISSN 2157-3999
DOI: 10.1371/currents.hd.270776c4fdd7776499dd45bf47049a75

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

Author(s): 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
Published in: The Lancet Diabetes & Endocrinology, Issue 5/2, 2017, Page(s) 97-105, ISSN 2213-8587
DOI: 10.1016/s2213-8587(16)30396-5

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

Author(s): Orthodoxia Nicolaou, Andreas Kousios, Andreas Hadjisavvas, Bernard Lauwerys, Kleitos Sokratous, Kyriacos Kyriacou
Published in: Journal of Cellular and Molecular Medicine, Issue 21/5, 2017, Page(s) 993-1012, ISSN 1582-1838
DOI: 10.1111/jcmm.13031

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

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

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

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

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

Author(s): Marlen I. Vasquez, Maria Tarapoulouzi, Nancy Lambrianides, Evroula Hapeshi, Kyriakos Felekkis, Maria Saile, Carsten Sticht, Norbert Gretz, Despo Fatta-Kassinos
Published in: Environmental Toxicology and Chemistry, Issue 35/11, 2016, Page(s) 2753-2764, ISSN 0730-7268
DOI: 10.1002/etc.3444

Detection of a Yersinia pestis gene homologue in rodent samples

Author(s): Timothy A. Giles, Alex D. Greenwood, Kyriakos Tsangaras, Tom C. Giles, Paul A. Barrow, Duncan Hannant, Abu-Bakr Abu-Median, Lisa Yon
Published in: PeerJ, Issue 4, 2016, Page(s) e2216, ISSN 2167-8359
DOI: 10.7717/peerj.2216

Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)

Author(s): Hatef Darabi, Jonathan Beesley, Arnaud Droit, Siddhartha Kar, Silje Nord, Mahdi Moradi Marjaneh, Penny Soucy, Kyriaki Michailidou, Maya Ghoussaini, Hanna Fues Wahl, Manjeet K. Bolla, Qin Wang, Joe Dennis, M. Rosario Alonso, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W. Beckmann, Javier Benitez, Natalia V. Bogdanova, Stig E. Bojesen, Hiltrud Brauch, Hermann Brenner, Annegien Broek
Published in: Scientific Reports, Issue 6/1, 2016, ISSN 2045-2322
DOI: 10.1038/srep32512

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

Author(s): Linda E. Neaves, Greta J. Frankham, Siobhan Dennison, Sean FitzGibbon, Cheyne Flannagan, Amber Gillett, Emily Hynes, Kathrine Handasyde, Kristofer M. Helgen, Kyriakos Tsangaras, Alex D. Greenwood, Mark D. B. Eldridge, Rebecca N. Johnson
Published in: PLOS ONE, Issue 11/9, 2016, Page(s) e0162207, ISSN 1932-6203
DOI: 10.1371/journal.pone.0162207

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

Author(s): Demetris Iacovides, Gizem Rizki, Georgios Lapathitis, Katerina Strati
Published in: Stem Cell Research & Therapy, Issue 7/1, 2016, ISSN 1757-6512
DOI: 10.1186/s13287-016-0357-5

Idiopathic focal epilepsies: the “lost tribe”

Author(s): Deb K. Pal, Colin Ferrie, Laura Addis, Tomoyuki Akiyama, Giuseppe Capovilla, Roberto Caraballo, Anne de Saint-Martin, Natalio Fejerman, Renzo Guerrini, Khalid Hamandi, Ingo Helbig, Andreas A. Ioannides, Katsuhiro Kobayashi, Dennis Lal, Gaetan Lesca, Hiltrud Muhle, Bernd A. Neubauer, Tiziana Pisano, Gabrielle Rudolf, Caroline Seegmuller, Takashi Shibata, Anna Smith, Pasquale Striano, Lisa J. Strug,
Published in: Epileptic Disorders, Issue 18/3, 2016, Page(s) 252-288, ISSN 1294-9361
DOI: 10.1684/epd.2016.0839

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

Author(s): Chi Gao, Chirag J Patel, Kyriaki Michailidou, Ulrike Peters, Jian Gong, Joellen Schildkraut, Fredrick R Schumacher, Wei Zheng, Paolo Boffetta, Isabelle Stucker, Walter Willett, Stephen Gruber, Douglas F Easton, David J Hunter, Thomas A Sellers, Christopher Haiman, Brian E Henderson, Rayjean J Hung, Christopher Amos, Brandon L Pierce, Sara Lindström, Peter Kraft
Published in: International Journal of Epidemiology, Issue 45/3, 2016, Page(s) 896-908, ISSN 0300-5771
DOI: 10.1093/ije/dyw129

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

Author(s): Leila Dorling, Siddhartha Kar, Kyriaki Michailidou, Louise Hiller, Anne-Laure Vallier, Susan Ingle, Richard Hardy, Sarah J. Bowden, Janet A. Dunn, Chris Twelves, Christopher J. Poole, Carlos Caldas, Helena M. Earl, Paul D. P. Pharoah, Jean E. Abraham
Published in: PLOS ONE, Issue 11/7, 2016, Page(s) e0158984, ISSN 1932-6203
DOI: 10.1371/journal.pone.0158984

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

Author(s): Natalia Filippidou, George Krashias, Charis Pericleous, Anisur Rahman, Yiannis Ioannou, Ian Giles, Christiana Demetriou, Afroditi Anatolitou, Christina Christodoulou, Marios Pantzaris, Anastasia Lambrianides
Published in: Molecular Immunology, Issue 75, 2016, Page(s) 161-167, ISSN 0161-5890
DOI: 10.1016/j.molimm.2016.05.022

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

Author(s): Gavriella Mavrikiou, Petros Petrou, Theodoros Georgiou, Anthi Drousiotou
Published in: Clinical Biochemistry, Issue 49/12, 2016, Page(s) 885-889, ISSN 0009-9120
DOI: 10.1016/j.clinbiochem.2016.03.013

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

Author(s): George Koumbaris, Elena Kypri, Kyriakos Tsangaras, Achilleas Achilleos, Petros Mina, Maria Neofytou, Voula Velissariou, Georgia Christopoulou, Ioannis Kallikas, Alicia González-Liñán, Egle Benusiene, Anna Latos-Bielenska, Pietryga Marek, Alfredo Santana, Nikoletta Nagy, Márta Széll, Piotr Laudanski, Elisavet A Papageorgiou, Marios Ioannides, Philippos C Patsalis
Published in: Clinical Chemistry, Issue 62/6, 2016, Page(s) 848-855, ISSN 0009-9147
DOI: 10.1373/clinchem.2015.252502

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

Author(s): Eleftherios S. Papathanasiou
Published in: Clinical Neurophysiology, Issue 127/5, 2016, Page(s) 2237-2239, ISSN 1388-2457
DOI: 10.1016/j.clinph.2016.02.015

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Author(s): Daniel J Klionsky, Kotb Abdelmohsen, Akihisa Abe, Md Joynal Abedin, Hagai Abeliovich, Abraham Acevedo Arozena, Hiroaki Adachi, Christopher M Adams, Peter D Adams, Khosrow Adeli, Peter J Adhihetty, Sharon G Adler, Galila Agam, Rajesh Agarwal, Manish K Aghi, Maria Agnello, Patrizia Agostinis, Patricia V Aguilar, Julio Aguirre-Ghiso, Edoardo M Airoldi, Slimane Ait-Si-Ali, Takahiko Akematsu, Emmanuel
Published in: Autophagy, Issue 12/1, 2016, Page(s) 1-222, ISSN 1554-8627
DOI: 10.1080/15548627.2015.1100356

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

Author(s): Laura Obici, Jan B. Kuks, Juan Buades, David Adams, Ole B. Suhr, Teresa Coelho, Theodore Kyriakides
Published in: Current Opinion in Neurology, Issue 29, 2016, Page(s) S27-S35, ISSN 1350-7540
DOI: 10.1097/wco.0000000000000290

Lessons learned — resolving the enigma of genetic factors in IBS

Author(s): Maria Gazouli, Mira M. Wouters, Lejla Kapur-Pojskić, May-Bente Bengtson, Eitan Friedman, Gordana Nikčević, Christiana A. Demetriou, Agata Mulak, Javier Santos, Beate Niesler
Published in: Nature Reviews Gastroenterology & Hepatology, Issue 13/2, 2016, Page(s) 77-87, ISSN 1759-5045
DOI: 10.1038/nrgastro.2015.206

Measurement of lentiviral vector titre and copy number by cross-species duplex quantitative PCR

Author(s): I Christodoulou, P Patsali, C Stephanou, M Antoniou, M Kleanthous, C W Lederer
Published in: Gene Therapy, Issue 23/1, 2016, Page(s) 113-118, ISSN 0969-7128
DOI: 10.1038/gt.2015.60

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

Author(s): Ekatherine Prokopiou, Panagiotis Kolovos, Maria Kalogerou, Anastasia Neokleous, Gregory Papagregoriou, Constantinos Deltas, Stavros Malas, Tassos Georgiou
Published in: BMJ Open Ophthalmology, Issue 1/1, 2017, Page(s) e000056, ISSN 2397-3269
DOI: 10.1136/bmjophth-2016-000056

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

Author(s): 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,
Published in: Nature Genetics, Issue 50/1, 2018, Page(s) 26-41, ISSN 1061-4036
DOI: 10.1038/s41588-017-0011-x

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

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

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

Author(s): Maria Kalogerou, Panagiotis Kolovos, Ekatherine Prokopiou, Gregory Papagregoriou, Constantinos Deltas, Stavros Malas, Tassos Georgiou
Published in: Experimental Eye Research, Issue 167, 2018, Page(s) 128-139, ISSN 0014-4835
DOI: 10.1016/j.exer.2017.12.005

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

Author(s): Matthew Hobbs, Andrew King, Ryan Salinas, Zhiliang Chen, Kyriakos Tsangaras, Alex D. Greenwood, Rebecca N. Johnson, Katherine Belov, Marc R. Wilkins, Peter Timms
Published in: Scientific Reports, Issue 7/1, 2017, ISSN 2045-2322
DOI: 10.1038/s41598-017-16171-1

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

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

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

Author(s): Angelos P. Kassianos, Giorgos Georgiou, Electra P. Papaconstantinou, Angeliki Detzortzi, Rob Horne
Published in: Frontiers in Psychology, Issue 8, 2017, ISSN 1664-1078
DOI: 10.3389/fpsyg.2017.01769

Association analysis identifies 65 new breast cancer risk loci

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

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

Author(s): Roger L Milne, Karoline B Kuchenbaecker, Kyriaki Michailidou, Jonathan Beesley, Siddhartha Kar, Sara Lindström, Shirley Hui, Audrey Lemaçon, Penny Soucy, Joe Dennis, Xia Jiang, Asha Rostamianfar, Hilary Finucane, Manjeet K Bolla, Lesley McGuffog, Qin Wang, Cora M Aalfs, Marcia Adams, Julian Adlard, Simona Agata, Shahana Ahmed, Habibul Ahsan, Kristiina Aittomäki, Fares Al-Ejeh, Jamie Allen, Chri
Published in: Nature Genetics, Issue 49/12, 2017, Page(s) 1767-1778, ISSN 1061-4036
DOI: 10.1038/ng.3785

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

Author(s): Panayiotis Kouis, Andreas Hadjisavvas, Nicos Middleton, Stefania I. Papatheodorou, Kyriacos Kyriacou, Panayiotis K. Yiallouros
Published in: Pulmonary Pharmacology & Therapeutics, Issue 48, 2018, Page(s) 15-21, ISSN 1094-5539
DOI: 10.1016/j.pupt.2017.10.010

Texture Feature Variability in Ultrasound Video of the Atherosclerotic Carotid Plaque

Author(s): Christos P. Loizou, Constantinos S. Pattichis, Marios Pantziaris, Efthyvoulos Kyriacou, Andrew Nicolaides
Published in: IEEE Journal of Translational Engineering in Health and Medicine, Issue 5, 2017, Page(s) 1-9, ISSN 2168-2372
DOI: 10.1109/jtehm.2017.2728662

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

Author(s): Emmanouil Saloustros, Daniel P Stark, Kyriaki Michailidou, Giannis Mountzios, Laurence Brugieres, Fedro Alessandro Peccatori, Svetlana Jezdic, Samira Essiaf, Jean-Yves Douillard, Stefan Bielack
Published in: ESMO Open, Issue 2/4, 2017, Page(s) e000252, ISSN 2059-7029
DOI: 10.1136/esmoopen-2017-000252

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

Author(s): Christoforos D. Giannaki, Georgios M. Hadjigeorgiou, George Aphamis, Marios Pantzaris, Giorgos K. Sakkas
Published in: Sleep Science, Issue 10/1, 2017, ISSN 1984-0063
DOI: 10.5935/1984-0063.20170002

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

Author(s): Sara Ruiz-Pinto, Guillermo Pita, Ana Patiño-García, Javier Alonso, Antonio Pérez-Martínez, Antonio J. Cartón, Federico Gutiérrez-Larraya, María R. Alonso, Daniel R. Barnes, Joe Dennis, Kyriaki Michailidou, Carmen Gómez-Santos, Deborah J. Thompson, Douglas F. Easton, Javier Benítez, Anna González-Neira
Published in: Pharmacogenetics and Genomics, Issue 27/12, 2017, Page(s) 445-453, ISSN 1744-6872
DOI: 10.1097/fpc.0000000000000309

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

Author(s): Christoforos D Giannaki, Michael Hadjigavriel, Akis Lazarou, Aristos Michael, Loukas Damianou, Efthimios Atmatzidis, Ioannis Stefanidis, Georgios M Hadjigeorgiou, Giorgos K Sakkas, Marios Pantzaris
Published in: World Journal of Nephrology, Issue 6/5, 2017, Page(s) 236, ISSN 2220-6124
DOI: 10.5527/wjn.v6.i5.236

Editorial

Author(s): K. Kyriacou, Panayiotis Yiallouros
Published in: Ultrastructural Pathology, Issue 41/6, 2017, Page(s) 370-372, ISSN 0191-3123
DOI: 10.1080/01913123.2017.1367361

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

Author(s): Assimina Galli Tsinopoulou, Anastasios Serbis, Eleni P. Kotanidou, Eleni Litou, Vaia Dokousli, Konstantina Mouzaki, Pavlos Fanis, Vassos Neocleous, Nicos Skordis
Published in: Journal of Clinical Research in Pediatric Endocrinology, Issue 10/1, 2018, Page(s) 74-78, ISSN 1308-5727
DOI: 10.4274/jcrpe.4829

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

Author(s): Maria G. Koliou, Talia Kakourou, Jan Richter, Christina Christodoulou, Elpidoforos S. Soteriades
Published in: Journal of Medical Case Reports, Issue 11/1, 2017, ISSN 1752-1947
DOI: 10.1186/s13256-017-1345-9

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

Author(s): George Krashias, Dana Koptides, Christina Christodoulou
Published in: BMC Infectious Diseases, Issue 17/1, 2017, ISSN 1471-2334
DOI: 10.1186/s12879-017-2439-0

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

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

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

Author(s): Elena Panayiotou, Eleni Fella, Revekka Papacharalambous, Stavros Malas, Maria Joao Saraiva, Theodoros Kyriakides
Published in: PLOS ONE, Issue 12/4, 2017, Page(s) e0175767, ISSN 1932-6203
DOI: 10.1371/journal.pone.0175767

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

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

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

Author(s): 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
Published in: Orphanet Journal of Rare Diseases, Issue 12/1, 2017, ISSN 1750-1172
DOI: 10.1186/s13023-017-0608-2

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

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

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

Author(s): Niki I. Paphitou, Aristomenis Tourvas, Dora Floridou, Jan Richter, Christina Tryfonos, Christina Christodoulou
Published in: Journal of Infection and Public Health, Issue 10/6, 2017, Page(s) 891-893, ISSN 1876-0341
DOI: 10.1016/j.jiph.2017.02.003

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

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

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

Author(s): George A. Tanteles, Nayia Nicolaou, Andreas Syrimis, Rafaella Metaxa, Michael Nicolaou, Violetta Christophidou-Anastasiadou, Nicos Skordis
Published in: Clinical Dysmorphology, Issue 26/2, 2017, Page(s) 61-65, ISSN 0962-8827
DOI: 10.1097/mcd.0000000000000170

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

Author(s): Constantia Aristidou, Costas Koufaris, Athina Theodosiou, Mads Bak, Mana M. Mehrjouy, Farkhondeh Behjati, George Tanteles, Violetta Christophidou-Anastasiadou, Niels Tommerup, Carolina Sismani
Published in: PLOS ONE, Issue 12/1, 2017, Page(s) e0169935, ISSN 1932-6203
DOI: 10.1371/journal.pone.0169935

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

Author(s): Anthi Demetriadou, Julia Morales-Sanfrutos, Marianna Nearchou, Otto Baba, Kyriacos Kyriacou, Edward W. Tate, Anthi Drousiotou, Petros P. Petrou
Published in: Journal of Cell Science, Issue 130/5, 2017, Page(s) 903-915, ISSN 0021-9533
DOI: 10.1242/jcs.195263

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

Author(s): Charles K. Abrams, Mikhail Goman, Sarah Wong, Steven S. Scherer, Kleopas A. Kleopa, Alejandro Peinado, Mona M. Freidin
Published in: Scientific Reports, Issue 7/1, 2017, ISSN 2045-2322
DOI: 10.1038/srep40166

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

Author(s): Maria G. Kakkoura, Kleitos Sokratous, Christiana A. Demetriou, Maria A. Loizidou, Giorgos Loucaides, Eleni Kakouri, Andreas Hadjisavvas, Kyriacos Kyriacou
Published in: Molecular Nutrition & Food Research, Issue 61/4, 2017, Page(s) 1600558, ISSN 1613-4125
DOI: 10.1002/mnfr.201600558

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

Author(s): 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
Published in: The American Journal of Human Genetics, Issue 104/1, 2019, Page(s) 21-34, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2018.11.002

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

Author(s): Arnt V Kristen, Senda Ajroud-Driss, Isabel Conceição, Peter Gorevic, Theodoros Kyriakides, Laura Obici
Published in: Neurodegenerative Disease Management, Issue 9/1, 2019, Page(s) 5-23, ISSN 1758-2024
DOI: 10.2217/nmt-2018-0033

SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits

Author(s): 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
Published in: Nature Neuroscience, Issue 21/12, 2018, Page(s) 1-13, ISSN 1097-6256
DOI: 10.1038/s41593-018-0268-0

Replication study of GWAS risk loci in Greek multiple sclerosis patients

Author(s): 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
Published in: Neurological Sciences, Issue 40/2, 2019, Page(s) 253-260, ISSN 1590-1874
DOI: 10.1007/s10072-018-3617-6

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

Author(s): Sakis Lambrianides, Evgenios Kinnis, Eleni Leonidou, Marios Pantzaris
Published in: Case Reports in Neurology, Issue 10/3, 2019, Page(s) 286-291, ISSN 1662-680X
DOI: 10.1159/000492891

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

Author(s): 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
Published in: Molecular Therapy - Methods & Clinical Development, Issue 11, 2018, Page(s) 9-28, ISSN 2329-0501
DOI: 10.1016/j.omtm.2018.09.001

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

Author(s): Adamos Hadjipanayis, Elisavet Efstathiou, Kyriaki Michaelidou, Vasiliki Papaevangelou
Published in: Vaccine, Issue 36/38, 2018, Page(s) 5685-5691, ISSN 0264-410X
DOI: 10.1016/j.vaccine.2018.08.021

Identification of nine new susceptibility loci for endometrial cancer

Author(s): 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
Published in: Nature Communications, Issue 9/1, 2018, ISSN 2041-1723
DOI: 10.1038/s41467-018-05427-7

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

Author(s): 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
Published in: Proceedings of the National Academy of Sciences, Issue 115/34, 2018, Page(s) 8609-8614, ISSN 0027-8424
DOI: 10.1073/pnas.1807598115

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

Author(s): Anisha Dayaram, Kyriakos Tsangaras, Selvaraj Pavulraj, Walid Azab, Nicole Groenke, Gudrun Wibbelt, Florian Sicks, Nikolaus Osterrieder, Alex D. Greenwood
Published in: mSphere, Issue 3/4, 2018, Page(s) e00171-18, ISSN 2379-5042
DOI: 10.1128/msphere.00171-18

Adaptation and conservation insights from the koala genome

Author(s): 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
Published in: Nature Genetics, Issue 50/8, 2018, Page(s) 1102-1111, ISSN 1061-4036
DOI: 10.1038/s41588-018-0153-5

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

Author(s): 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
Published in: Nature Genetics, Issue 50/7, 2018, Page(s) 968-978, ISSN 1061-4036
DOI: 10.1038/s41588-018-0132-x

Positioning Europe for the EPITRANSCRIPTOMICS challenge

Author(s): 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
Published in: RNA Biology, 2018, Page(s) 1-3, ISSN 1547-6286
DOI: 10.1080/15476286.2018.1460996

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

Author(s): 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
Published in: Cancer Medicine, Issue 7/5, 2018, Page(s) 1978-1987, ISSN 2045-7634
DOI: 10.1002/cam4.1445

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

Author(s): Christiana A. Demetriou, Davide Degli Esposti, Kristi Pullen Fedinick, Federica Russo, Oliver Robinson, Paolo Vineis
Published in: European Journal of Clinical Investigation, Issue 48/6, 2018, Page(s) e12933, ISSN 0014-2972
DOI: 10.1111/eci.12933

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

Author(s): Paraskevi Chairta, Paschalis Nicolaou, Kleitos Sokratous, Christine Galant, Frédéric Houssiau, Anastasis Oulas, George M. Spyrou, Marta E. Alarcon-Riquelme, Bernard R. Lauwerys, Kyproula Christodoulou
Published in: Arthritis Research & Therapy, Issue 22/1, 2020, ISSN 1478-6362
DOI: 10.1186/s13075-020-02196-x

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

Author(s): Evangelos Karatzas, Margarita Zachariou, Marilena M Bourdakou, George Minadakis, Anastasis Oulas, George Kolios, Alex Delis, George M Spyrou
Published in: Bioinformatics, 2020, ISSN 1367-4803
DOI: 10.1093/bioinformatics/btaa291

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

Author(s): Marios Tomazou, Anastasis Oulas, Athanasios K. Anagnostopoulos, George Th. Tsangaris, George M. Spyrou
Published in: Proteomes, Issue 7/4, 2019, Page(s) 32, ISSN 2227-7382
DOI: 10.3390/proteomes7040032

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

Author(s): Evangelos Karatzas, George Minadakis, George Kolios, Alex Delis, George M. Spyrou
Published in: Computational and Structural Biotechnology Journal, Issue 17, 2019, Page(s) 939-945, ISSN 2001-0370
DOI: 10.1016/j.csbj.2019.05.010

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

Author(s): Anastasis Oulas, George Minadakis, Margarita Zachariou, George M. Spyrou
Published in: Scientific Reports, Issue 9/1, 2019, ISSN 2045-2322
DOI: 10.1038/s41598-019-39796-w

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

Author(s): Vasiliki Gkretsi, Maria Louca, Andreas Stylianou, George Minadakis, George M. Spyrou, Triantafyllos Stylianopoulos
Published in: International Journal of Molecular Sciences, Issue 20/1, 2019, Page(s) 163, ISSN 1422-0067
DOI: 10.3390/ijms20010163

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

Author(s): Ioannis Anastopoulos, Michalis Omirou, Coralea Stephanou, Anastasios Oulas, Michalis A. Vasiliades, Angelos M. Efstathiou, Ioannis M. Ioannides
Published in: Journal of Environmental Management, Issue 250, 2019, Page(s) 109389, ISSN 0301-4797
DOI: 10.1016/j.jenvman.2019.109389

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

Author(s): 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
Published in: Circulation: Cardiovascular Imaging, Issue 11/1, 2018, ISSN 1941-9651
DOI: 10.1161/circimaging.117.007002

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

Author(s): Ekatherine Prokopiou, Panagiotis Kolovos, Maria Kalogerou, Anastasia Neokleous, Orthodoxia Nicolaou, Kleitos Sokratous, Kyriacos Kyriacou, Tassos Georgiou
Published in: Investigative Opthalmology & Visual Science, Issue 59/7, 2018, Page(s) 2757, ISSN 1552-5783
DOI: 10.1167/iovs.17-23523

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

Author(s): Christoforos D. Giannaki, Panagiotis Aristotelous, Manos Stefanakis, Georgios M. Hadjigeorgiou, Mauro Manconi, Eleni Leonidou, Giorgos K. Sakkas, Marios Pantzaris
Published in: Neurological Research, Issue 40/7, 2018, Page(s) 588-594, ISSN 0161-6412
DOI: 10.1080/01616412.2018.1454719

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

Author(s): 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,
Published in: Nature Genetics, Issue 50/5, 2018, Page(s) 766-767, ISSN 1061-4036
DOI: 10.1038/s41588-018-0082-3

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

Author(s): Athena K. Petrides, Stacy E.F. Melanson, Michalis Kantartjis, Rachel D. Le, Christiana A. Demetriou, James G. Flood
Published in: Clinica Chimica Acta, Issue 481, 2018, Page(s) 75-82, ISSN 0009-8981
DOI: 10.1016/j.cca.2018.02.034

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

Author(s): 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
Published in: Human Mutation, Issue 39/5, 2018, Page(s) 729-741, ISSN 1059-7794
DOI: 10.1002/humu.23411

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

Author(s): George D. Vavougios, Triantafyllos Doskas, Kostas Konstantopoulos
Published in: Neurological Sciences, Issue 39/5, 2018, Page(s) 847-850, ISSN 1590-1874
DOI: 10.1007/s10072-018-3267-8

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

Author(s): Eleftherios S. Papathanasiou
Published in: Clinical Neurophysiology, Issue 129/4, 2018, Page(s) 847-848, ISSN 1388-2457
DOI: 10.1016/j.clinph.2018.01.013

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

Author(s): Panagiotis Aristotelous, George Aphamis, Giorgos K. Sakkas, Eleni Andreou, Marios Pantzaris, Theodoros Kyprianou, Georgios M. Hadjigeorgiou, Mauro Manconi, Christoforos D. Giannaki
Published in: Journal of Sleep Research, Issue 28/3, 2018, Page(s) e12662, ISSN 0962-1105
DOI: 10.1111/jsr.12662

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

Author(s): Adamos Hadjipanayis, Zachi Grossman, Stefano del Torso, Kyriaki Michailidou, Diego Van Esso, Rita Cauwels
Published in: European Journal of Pediatrics, Issue 177/5, 2018, Page(s) 675-681, ISSN 0340-6199
DOI: 10.1007/s00431-018-3108-z

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

Author(s): Sadr-ul Shaheed, Catherine Tait, Kyriacos Kyriacou, Richard Linforth, Mohamed Salhab, Chris Sutton
Published in: Clinical Proteomics, Issue 15/1, 2018, ISSN 1542-6416
DOI: 10.1186/s12014-017-9179-4

Arterial tortuosity syndrome: 40 new families and literature review

Author(s): 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
Published in: Genetics in Medicine, Issue 20/10, 2018, Page(s) 1236-1245, ISSN 1098-3600
DOI: 10.1038/gim.2017.253

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

Author(s): 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
Published in: International Journal of Epidemiology, Issue 47/2, 2018, Page(s) 526-536, ISSN 0300-5771
DOI: 10.1093/ije/dyx242

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

Author(s): 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
Published in: Journal of Medical Virology, 2020, ISSN 0146-6615
DOI: 10.1002/jmv.25659

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

Author(s): 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
Published in: International Journal of Epidemiology, 2019, ISSN 0300-5771
DOI: 10.1093/ije/dyz242

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

Author(s): 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
Published in: Vaccine, Issue 38/6, 2020, Page(s) 1505-1512, ISSN 0264-410X
DOI: 10.1016/j.vaccine.2019.11.068

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

Author(s): 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
Published in: Molecular Cytogenetics, Issue 12/1, 2019, ISSN 1755-8166
DOI: 10.1186/s13039-019-0459-8

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

Author(s): Elena Panayiotou, Eleni Fella, Savanna Andreou, Revekka Papacharalambous, Petroula Gerasimou, Paul Costeas, Stella Angeli, Ioanna Kousiappa, Savvas Papacostas, Theodoros Kyriakides
Published in: PLOS ONE, Issue 14/12, 2019, Page(s) e0225417, ISSN 1932-6203
DOI: 10.1371/journal.pone.0225417

Gene therapy approaches targeting Schwann cells for demyelinating neuropathies

Author(s): Irene Sargiannidou, Alexia Kagiava, Kleopas A. Kleopa
Published in: Brain Research, Issue 1728, 2020, Page(s) 146572, ISSN 0006-8993
DOI: 10.1016/j.brainres.2019.146572

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

Author(s): Isaac Chua, Athena K. Petrides, Gordon D. Schiff, Jaime R. Ransohoff, Michalis Kantartjis, Jocelyn Streid, Christiana A. Demetriou, Stacy E. F. Melanson
Published in: Journal of General Internal Medicine, Issue 35/1, 2020, Page(s) 283-290, ISSN 0884-8734
DOI: 10.1007/s11606-019-05514-5

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

Author(s): 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
Published in: BMC Cardiovascular Disorders, Issue 19/1, 2019, ISSN 1471-2261
DOI: 10.1186/s12872-019-1187-z

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

Author(s): Pavlos Fanis, Nicos Skordis, Meropi Toumba, Nikoletta Papaioannou, Anestis Makris, Andreas Kyriakou, Vassos Neocleous, Leonidas A. Phylactou
Published in: Frontiers in Endocrinology, Issue 10, 2019, ISSN 1664-2392
DOI: 10.3389/fendo.2019.00677

A novel case of inclusion body myositis and myasthenia gravis

Author(s): Sakis Lambrianides, Evgenios Kinnis, Michele Cleanthous, Revekka Papacharalambous, Elena Panayiotou, Eleni Zamba-Papanicolaou, Theodoros Kyriakides
Published in: Neuromuscular Disorders, Issue 29/10, 2019, Page(s) 771-775, ISSN 0960-8966
DOI: 10.1016/j.nmd.2019.09.004

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

Author(s): Andrea Christofides, Gregory Papagregoriou, Harsh Dweep, Neoklis Makrides, Norbert Gretz, Kyriacos Felekkis, Constantinos Deltas
Published in: Cellular and Molecular Life Sciences, 2019, ISSN 1420-682X
DOI: 10.1007/s00018-019-03294-z

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

Author(s): Christiana A. Demetriou, Petros M. Hadjivasiliou, Kleopas A. Kleopa, Yiolanda P. Christou, Eleni Leonidou, Theodoros Kyriakides, Eleni Zamba-Papanicolaou
Published in: PLOS ONE, Issue 14/9, 2019, Page(s) e0220246, ISSN 1932-6203
DOI: 10.1371/journal.pone.0220246

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

Author(s): Panayiotis Aristotelous, Manos Stefanakis, Marios Pantzaris, Constantinos Pattichis, Georgios M Hadjigeorgiou, Christoforos D Giannaki
Published in: Postgraduate Medicine, Issue 131/7, 2019, Page(s) 453-460, ISSN 0032-5481
DOI: 10.1080/00325481.2019.1662271

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

Author(s): 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
Published in: Multiple Sclerosis and Related Disorders, Issue 35, 2019, Page(s) 116-118, ISSN 2211-0348
DOI: 10.1016/j.msard.2019.07.007

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

Author(s): Eleni Leonidou, Marios Pantzaris, Kleopas A. Kleopa, Maria A. Loizidou, Theodoros Kyriakides, Yiolanda P. Christou
Published in: Postgraduate Medicine, Issue 131/7, 2019, Page(s) 486-489, ISSN 0032-5481
DOI: 10.1080/00325481.2019.1649975

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

Author(s): 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
Published in: Appetite, Issue 142, 2019, Page(s) 104376, ISSN 0195-6663
DOI: 10.1016/j.appet.2019.104376

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

Author(s): 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
Published in: Royal Society Open Science, Issue 6/6, 2019, Page(s) 190420, ISSN 2054-5703
DOI: 10.1098/rsos.190420

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

Author(s): 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
Published in: Nature Genetics, Issue 51/8, 2019, Page(s) 1207-1214, ISSN 1061-4036
DOI: 10.1038/s41588-019-0439-2

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

Author(s): E.S. Papathanasiou, D. Straumann
Published in: Clinical Neurophysiology, Issue 130/9, 2019, Page(s) 1539-1556, ISSN 1388-2457
DOI: 10.1016/j.clinph.2019.04.719

Does SCFD1 rs10139154 Polymorphism Decrease Alzheimer’s Disease Risk?

Author(s): 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
Published in: Journal of Molecular Neuroscience, Issue 69/2, 2019, Page(s) 343-350, ISSN 0895-8696
DOI: 10.1007/s12031-019-01363-3

The role of oligodendrocyte gap junctions in neuroinflammation

Author(s): Christos Papaneophytou, Elena Georgiou, Kleopas A. Kleopa
Published in: Channels, Issue 13/1, 2019, Page(s) 247-263, ISSN 1933-6950
DOI: 10.1080/19336950.2019.1631107

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

Author(s): 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
Published in: The American Journal of Human Genetics, Issue 105/1, 2019, Page(s) 132-150, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2019.05.015

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

Author(s): 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
Published in: International Journal of Epidemiology, Issue 48/3, 2019, Page(s) 1016-1017, ISSN 0300-5771
DOI: 10.1093/ije/dyz015

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

Author(s): Panayiotis Kouis, Stefania I. Papatheodorou, Nicos Middleton, George Giallouros, Kyriacos Kyriacou, Joshua T. Cohen, John S. Evans, Panayiotis K. Yiallouros
Published in: Orphanet Journal of Rare Diseases, Issue 14/1, 2019, ISSN 1750-1172
DOI: 10.1186/s13023-019-1116-3

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

Author(s): 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
Published in: Journal of the European Academy of Dermatology and Venereology, Issue 33/10, 2019, ISSN 0926-9959
DOI: 10.1111/jdv.15662

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

Author(s): 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
Published in: Molecular Genetics & Genomic Medicine, Issue 7/6, 2019, Page(s) e707, ISSN 2324-9269
DOI: 10.1002/mgg3.707

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

Author(s): 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,
Published in: Nature Communications, Issue 10/1, 2019, ISSN 2041-1723
DOI: 10.1038/s41467-018-08053-5

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

Author(s): Kostas Konstantopoulos, Paris Vogazianos
Published in: Applied Neuropsychology: Adult, 2019, Page(s) 1-5, ISSN 2327-9109
DOI: 10.1080/23279095.2019.1588123

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

Author(s): Eleftherios S. Papathanasiou
Published in: Clinical Neurophysiology Practice, Issue 4, 2019, Page(s) 37-38, ISSN 2467-981X
DOI: 10.1016/j.cnp.2019.02.001

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

Author(s): Efthimios Dardiotis, Emmanouil Karampinis, Vasileios Siokas, Athina-Maria Aloizou, Dimitrios Rikos, Styliani Ralli, Dimitra Papadimitriou, Dimitrios P. Bogdanos, Georgios M. Hadjigeorgiou
Published in: Neurological Sciences, Issue 40/6, 2019, Page(s) 1237-1244, ISSN 1590-1874
DOI: 10.1007/s10072-019-03825-3

Vestibular evoked myogenic potentials (VEMPs) in systemic disease

Author(s): Eleftherios S. Papathanasiou
Published in: Clinical Neurophysiology, Issue 130/5, 2019, Page(s) 789-790, ISSN 1388-2457
DOI: 10.1016/j.clinph.2019.02.009

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

Author(s): 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
Published in: Nature Genetics, Issue 51/3, 2019, Page(s) 452-469, ISSN 1061-4036
DOI: 10.1038/s41588-018-0334-2

Shared heritability and functional enrichment across six solid cancers

Author(s): 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.
Published in: Nature Communications, Issue 10/1, 2019, ISSN 2041-1723
DOI: 10.1038/s41467-018-08054-4

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

Author(s): 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
Published in: Amyloid, Issue 26/1, 2019, Page(s) 10-14, ISSN 1350-6129
DOI: 10.1080/13506129.2018.1554563

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

Author(s): 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
Published in: Molecular Psychiatry, 2019, ISSN 1359-4184
DOI: 10.1038/s41380-018-0313-0

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

Author(s): 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
Published in: Genetics in Medicine, Issue 21/8, 2019, Page(s) 1894-1895, ISSN 1098-3600
DOI: 10.1038/s41436-018-0035-3

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

Author(s): 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
Published in: International Journal of Cancer, 2020, ISSN 0020-7136
DOI: 10.1002/ijc.33039

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

Author(s): Kritioti Evie, Theodosiou Athina, Nicolaou Nayia, Alexandrou Angelos, Papaevripidou Ioannis, Efstathiou Elisavet, Christophidou-Anastasiadou Violetta, Sismani Carolina, Tanteles A. George
Published in: European Journal of Medical Genetics, 2020, Page(s) 103939, ISSN 1769-7212
DOI: 10.1016/j.ejmg.2020.103939

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

Author(s): 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
Published in: JNCI: Journal of the National Cancer Institute, 2020, ISSN 0027-8874
DOI: 10.1093/jnci/djaa056

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

Author(s): 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
Published in: Nature Genetics, Issue 52/5, 2020, Page(s) 494-504, ISSN 1061-4036
DOI: 10.1038/s41588-020-0611-8

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

Author(s): Paraskevi Chairta, Savvas Psarelis, Kyriaki Michailidou, Christiana Demetriou, Sofia Symeonidou, Paschalis Nicolaou, Kyproula Christodoulou
Published in: Genetic Testing and Molecular Biomarkers, Issue 24/5, 2020, Page(s) 309-317, ISSN 1945-0265
DOI: 10.1089/gtmb.2019.0255

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

Author(s): 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
Published in: Frontiers in Pharmacology, Issue 11, 2020, ISSN 1663-9812
DOI: 10.3389/fphar.2020.00357

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

Author(s): Melina Mitsiogianni, Dimitrios T. Trafalis, Rodrigo Franco, Vasilis Zoumpourlis, Aglaia Pappa, Mihalis I. Panayiotidis
Published in: European Journal of Nutrition, 2020, ISSN 1436-6207
DOI: 10.1007/s00394-020-02227-y

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

Author(s): 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
Published in: Addiction Biology, 2020, Page(s) e12880, ISSN 1355-6215
DOI: 10.1111/adb.12880

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

Author(s): 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
Published in: International Journal of Epidemiology, Issue 49/1, 2019, Page(s) 216-232, ISSN 0300-5771
DOI: 10.1093/ije/dyz193

Morvan syndrome: Clinical and serological observations in 29 cases

Author(s): Sarosh R. Irani, Philippa Pettingill, Kleopas A. Kleopa, Natasa Schiza, Patrick Waters, Claudio Mazia, Luigi Zuliani, Osamu Watanabe, Bethan Lang, Camilla Buckley, Angela Vincent
Published in: Annals of Neurology, Issue 72/2, 2012, Page(s) 241-255, ISSN 0364-5134
DOI: 10.1002/ana.23577

Early treatment with glucocorticoids or cyclophosphamide retains the slit diaphragm proteins nephrin and podocin in experimental lupus nephritis

Author(s): D. Moysiadis, G. Perysinaki, G. Bertsias, S. Stratakis, K. Kyriacou, L. Nakopoulou, D. Boumpas, E. Daphnis
Published in: Lupus, Issue 21/11, 2012, Page(s) 1196-1207, ISSN 0961-2033
DOI: 10.1177/0961203312451784

Proteomic Profiling of Breast Tissue Collagens and Site-specific Characterization of Hydroxyproline Residues of Collagen Alpha-1-(I)

Author(s): Helen Montgomery, Nitin Rustogi, Andreas Hadjisavvas, Koichi Tanaka, Kyriacos Kyriacou, Chris W. Sutton
Published in: Journal of Proteome Research, 2012, Page(s) 121114071755009, ISSN 1535-3893
DOI: 10.1021/pr300656r

Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone

Author(s): 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
Published in: Clinica Chimica Acta, Issue 414, 2012, Page(s) 211-214, ISSN 0009-8981
DOI: 10.1016/j.cca.2012.09.013

Menarche, menopause, and breast cancer risk: individual participant meta-analysis, including 118 964 women with breast cancer from 117 epidemiological studies

Author(s): Collaborative Group on Hormonal Factors in Breast Cancer
Published in: The Lancet Oncology, Issue 13/11, 2012, Page(s) 1141-1151, ISSN 1470-2045
DOI: 10.1016/S1470-2045(12)70425-4

KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients

Author(s): 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
Published in: Pharmacogenomics, Issue 13/13, 2012, Page(s) 1487-1500, ISSN 1462-2416
DOI: 10.2217/pgs.12.125

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

Author(s): G. Christopoulos, G.M. Ezzat, M. Kleanthous
Published in: Egyptian Journal of Medical Human Genetics, Issue 13/3, 2012, Page(s) 343-349, ISSN 1110-8630
DOI: 10.1016/j.ejmhg.2012.06.008

Disruption of oligodendrocyte gap junctions in experimental autoimmune encephalomyelitis

Author(s): Kyriaki Markoullis, Irene Sargiannidou, Christopher Gardner, Andreas Hadjisavvas, Richard Reynolds, Kleopas A. Kleopa
Published in: Glia, Issue 60/7, 2012, Page(s) 1053-1066, ISSN 0894-1491
DOI: 10.1002/glia.22334

Fingolimod in the treatment algorithm of relapsing remitting multiple sclerosis: a statement of the Central and East European (CEE) MS Expert Group

Author(s): Franz Fazekas
Published in: Wiener Medizinische Wochenschrift, Issue 162/15-16, 2012, Page(s) 354-366, ISSN 0043-5341
DOI: 10.1007/s10354-012-0123-y

How do mutations in GJB1 cause X-linked Charcot–Marie–Tooth disease?

Author(s): Kleopas A. Kleopa, Charles K. Abrams, Steven S. Scherer
Published in: Brain Research, Issue 1487, 2012, Page(s) 198-205, ISSN 0006-8993
DOI: 10.1016/j.brainres.2012.03.068

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

Author(s): Kyriaki S. Pafiti, Costas S. Patrickios, Theoni K. Georgiou, Edna N. Yamasaki, Nikolaos P. Mastroyiannopoulos, Leonidas A. Phylactou
Published in: European Polymer Journal, Issue 48/8, 2012, Page(s) 1422-1430, ISSN 0014-3057
DOI: 10.1016/j.eurpolymj.2012.05.008

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

Author(s): 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, W
Published in: Human Mutation, Issue 33/11, 2012, Page(s) 1513-1519, ISSN 1059-7794
DOI: 10.1002/humu.22147

Effects of growth hormone on heart structure and function in adolescence

Author(s): Meropi Toumba, Vassos Neocleous, Christos Shammas, Antonis Jossif, Nicos Skordis
Published in: Georgian Medical News, Issue 210, 2012, Page(s) 34-39, ISSN 1512-0112

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

Author(s): Vassos Neocleous, Christos Shammas, Alexia A. Phedonos, Evaggelia Karaoli, Andreas Kyriakou, Meropi Toumba, Leonidas A. Phylactou, Nicos Skordis
Published in: Georgian Medical News, Issue 210, 2012, Page(s) 40-47, ISSN 1512-0112

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

Author(s): I.S. Patrikios, M.C. Pantzaris, G.N. Loukaides, E.E. Ntzani
Published in: Clinical Nutrition Supplements, Issue 7/1, 2012, Page(s) 266, ISSN 1744-1161
DOI: 10.1016/S1744-1161(12)70661-0

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

Author(s): S. Petroudi, C. Loizou, M. Pantziaris, C. Pattichis
Published in: IEEE Transactions on Biomedical Engineering, Issue 59/11, 2012, Page(s) 3060-3069, ISSN 0018-9294
DOI: 10.1109/TBME.2012.2214387

Psychosocial adjustment of epilepsy patients in Cyprus

Author(s): Panayiotis Stavrinides, Fofi Constantinidou, Irena Anastassiou, Antri Malikides, Savvas Papacostas
Published in: Epilepsy & Behavior, Issue 25/1, 2012, Page(s) 98-104, ISSN 1525-5050
DOI: 10.1016/j.yebeh.2012.05.022

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

Author(s): Christos Shammas, Vassos Neocleous, Meropi Toumba, Constantina Costi, Alexia A.P. Phedonos, Elisavet Efstathiou, Andreas Kyriakou, Leonidas A. Phylactou, Nicos Skordis
Published in: Genetic Testing and Molecular Biomarkers, Issue 16/9, 2012, Page(s) 1073-1079, ISSN 1945-0265
DOI: 10.1089/gtmb.2011.0381

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

Author(s): Eleftherios S. Papathanasiou, Eleni Zamba-Papanicolaou
Published in: Clinical Neurophysiology, Issue 123/7, 2012, Page(s) 1437-1439, ISSN 1388-2457
DOI: 10.1016/j.clinph.2011.10.046

X-linked Charcot-Marie-Tooth disease

Author(s): Steven S. Scherer, Kleopas A. Kleopa
Published in: Journal of the Peripheral Nervous System, Issue 17/s3, 2012, Page(s) 9-13, ISSN 1085-9489
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

Author(s): Philippos C. Patsalis
Published in: Applied & Translational Genomics, Issue 1, 2012, Page(s) 3-8, ISSN 2212-0661
DOI: 10.1016/j.atg.2012.04.001

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

Author(s): 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
Published in: Prenatal Diagnosis, Issue 32/10, 2012, Page(s) 996-1001, ISSN 0197-3851
DOI: 10.1002/pd.3947

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

Author(s): Christina Votsi, Eleni Zamba-Papanicolaou, Anthi Georghiou, Theodoros Kyriakides, Savvas Papacostas, Kleopas A. Kleopa, Marios Pantzaris, Kyproula Christodoulou
Published in: Journal of the Neurological Sciences, Issue 323/1-2, 2012, Page(s) 154-157, ISSN 0022-510X
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

Author(s): G. Christopoulou, C. Sismani, M. Sakellariou, M. Saklamaki, V. Athanassiou, V. Velissariou
Published in: Gene, Issue 527/2, 2013, Page(s) 694-697, ISSN 0378-1119
DOI: 10.1016/j.gene.2013.02.044

BRCA1 and Its Network of Interacting Partners

Author(s): Charita Christou, Kyriacos Kyriacou
Published in: Biology, Issue 2/1, 2013, Page(s) 40-63, ISSN 2079-7737
DOI: 10.3390/biology2010040

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

Author(s): Efthimios Dardiotis, Elena Panayiotou, Marianne L. Feldman, Andreas Hadjisavvas, Stavros Malas, Ilia Vonta, Georgios Hadjigeorgiou, Kyriakos Kyriakou, Theodoros Kyriakides
Published in: Neuroscience Letters, Issue 548, 2013, Page(s) 170-175, ISSN 0304-3940
DOI: 10.1016/j.neulet.2013.05.058

Methylome Analysis and Epigenetic Changes Associated with Menarcheal Age

Author(s): 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
Published in: PLoS ONE, Issue 8/11, 2013, Page(s) e79391, ISSN 1932-6203
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

Author(s): Paola Evangelidou, Angelos Alexandrou, Maria Moutafi, Marios Ioannides, Pavlos Antoniou, George Koumbaris, Ioannis Kallikas, Voula Velissariou, Carolina Sismani, Philippos C. Patsalis
Published in: BioMed Research International, Issue 2013, 2013, Page(s) 1-14, ISSN 2314-6133
DOI: 10.1155/2013/346762

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

Author(s): 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 Volosh
Published in: Frontiers in Neurology, Issue 4, 2013, ISSN 1664-2295
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

Author(s): Christoforos D Giannaki, Giorgos K Sakkas, Christina Karatzaferi, Georgios M Hadjigeorgiou, Eleftherios Lavdas, Theodoros Kyriakides, Yiannis Koutedakis, Ioannis Stefanidis
Published in: BMC Nephrology, Issue 14/1, 2013, Page(s) 194, ISSN 1471-2369
DOI: 10.1186/1471-2369-14-194

Connexin pathology in chronic multiple sclerosis and experimental autoimmune encephalomyelitis

Author(s): Kleopas A. Kleopa, Irene Sargiannidou, Kyriaki Markoullis
Published in: Clinical and Experimental Neuroimmunology, Issue 4, 2013, Page(s) 45-58, ISSN 1759-1961
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

Author(s): C. Henquell, A. Mirand, J. Richter, I. Schuffenecker, B. Bottiger, S. Diedrich, E. Terletskaia-Ladwig, C. Christodoulou, H. Peigue-Lafeuille, J.-L. Bailly
Published in: Journal of Virology, Issue 87/22, 2013, Page(s) 12249-12259, ISSN 0022-538X
DOI: 10.1128/JVI.02075-13

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

Author(s): Ludmila Kousoulidou, Maria Moutafi, Paola Nicolaides, Stavros Hadjiloizou, Christos Christofi, Anna Paradesiotou, Violetta Anastasiadou, Carolina Sismani, Philippos C. Patsalis
Published in: BioMed Research International, Issue 2013, 2013, Page(s) 1-5, ISSN 2314-6133
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

Author(s): Ludmila Kousoulidou, George Tanteles, Maria Moutafi, Carolina Sismani, Philippos C. Patsalis, Violetta Anastasiadou
Published in: European Journal of Medical Genetics, Issue 56/6, 2013, Page(s) 314-318, ISSN 1769-7212
DOI: 10.1016/j.ejmg.2013.03.005

Prevalence of Helicobacter pylori cagA and vacA genes in Cypriot patients

Author(s): George Krashias, Stavros Bashiardes, Alexia Potamitou, George S Potamitis, Christina Christodoulou
Published in: The Journal of Infection in Developing Countries, Issue 7/09, 2013, ISSN 1972-2680
DOI: 10.3855/jidc.2923

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

Author(s): Skevi Kyriakou, Elena Kypri, Christiana Spyrou, Evdokia Tsaliki, Voula Velissariou, Elisavet A. Papageorgiou, Philippos C. Patsalis
Published in: Prenatal Diagnosis, Issue 33/7, 2013, Page(s) 650-655, ISSN 0197-3851
DOI: 10.1002/pd.4140

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

Author(s): 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
Published in: European Journal of Neurology, Issue 20/7, 2013, Page(s) 997-1005, ISSN 1351-5101
DOI: 10.1111/ene.12174

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

Author(s): Andreani R. Kyrri, Eleni Kalogerou, Dena Loizidou, Christina Ioannou, Christina Makariou, Loukas Kythreotis, Marios Phylactides, Petros Kountouris, Michael Angastiniotis, Bernadette Modell, Marina Kleanthous
Published in: Hemoglobin, Issue 37/5, 2013, Page(s) 435-443, ISSN 0363-0269
DOI: 10.3109/03630269.2013.801851

Brain MR image normalization in texture analysis of multiple sclerosis

Author(s): Chritos P. Loizou, Marios Pantziaris, Constandinos S. Pattichis, Ioannis Seimenis
Published in: Journal of Biomedical Graphics and Computing, Issue 3/1, 2012, Page(s) 20-33, ISSN 1925-4016
DOI: 10.5430/jbgc.v3n1p20

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

Author(s): Nikolaos P. Mastroyiannopoulos, Antonis A. Antoniou, Andrie Koutsoulidou, James B. Uney, Leonidas A. Phylactou
Published in: Bioscience Reports, Issue 33/6, 2013, Page(s) 903-911, ISSN 0144-8463
DOI: 10.1042/BSR20130068

Despeckle Filtering Toolbox for Medical Ultrasound Video

Author(s): Christos P. Loizou, Charoula Theofanous, Marios Pantziaris, Takis Kasparis, Paul Christodoulides, Andrew N. Nicolaides, Constantinos S. Pattichis
Published in: International Journal of Monitoring and Surveillance Technologies Research, Issue 1 10.4018/IJMSTR.2013 http://services.igi-global.com/resolvedoi/resolve.aspx?doi=10.4018/IJMSTR.2013/4, 2013, Page(s) 61-79, ISSN 2166-7241
DOI: 10.4018/ijmstr.2013100106

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

Author(s): Paschalis Nicolaou, Carlo Cianchetti, Anna Minaidou, Giovanni Marrosu, Eleni Zamba-Papanicolaou, Lefkos Middleton, Kyproula Christodoulou
Published in: European Journal of Human Genetics, Issue 21/2, 2012, Page(s) 190-194, ISSN 1018-4813
DOI: 10.1038/ejhg.2012.146

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

Author(s): Paschalis Nicolaou, Kyproula Christodoulou
Published in: World Journal of Neurology, Issue 3/3, 2013, Page(s) 42-55, ISSN 2218-6212
DOI: 10.5316/wjn.v3.i3.42

Infection and Cancer: Revaluation of the Hygiene Hypothesis

Author(s): K. Oikonomopoulou, D. Brinc, K. Kyriacou, E. P. Diamandis
Published in: Clinical Cancer Research, Issue 19/11, 2013, Page(s) 2834-2841, ISSN 1078-0432
DOI: 10.1158/1078-0432.CCR-12-3661

Open-Source Telemedicine Platform for Wireless Medical Video Communication

Author(s): A. Panayides, I. Eleftheriou, M. Pantziaris
Published in: International Journal of Telemedicine and Applications, Issue 2013, 2013, Page(s) 1-12, ISSN 1687-6415
DOI: 10.1155/2013/457491

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

Author(s): Elisavet A Papageorgiou, Philippos C Patsalis
Published in: BMC Medicine, Issue 11/1, 2013, Page(s) 56, ISSN 1741-7015
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

Author(s): 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
Published in: European Journal of Human Genetics, Issue 21/12, 2013, Page(s) 1403-1410, ISSN 1018-4813
DOI: 10.1038/ejhg.2013.47

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

Author(s): Thessalia E. Papasavva, Carsten W. Lederer, Jan Traeger-Synodinos, Ariadne Mavrou, Emmanuel Kanavakis, Christiana Ioannou, Christiana Makariou, Marina Kleanthous
Published in: Annals of Human Genetics, Issue 77/2, 2013, Page(s) 115-124, ISSN 0003-4800
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.

Author(s): Eleftherios S. Papathanasiou, Savvas S. Papacostas, Marios Pantzaris
Published in: Multiple Sclerosis Journal, Issue 19/supp 11, 2013, Page(s) 185-194, ISSN 1352-4585

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

Author(s): Eleftherios S. Papathanasiou, Savvas S. Papacostas
Published in: Clinical Neurophysiology, Issue 124/10, 2013, Page(s) 1926-1927, ISSN 1388-2457
DOI: 10.1016/j.clinph.2013.05.005

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

Author(s): Christos P. Loizou, Efthyvoulos C. Kyriacou, Ioannis Seimenis, Marios Pantziaris, Styliani Petroudi, Minas Karaolis, Constantinos S. Pattichis
Published in: Intelligent Decision Technologies, Issue 7/1, 2013, Page(s) 3-10, ISSN 1872-4981
DOI: 10.3233/IDT-120147

Identification of Stage-Specific Breast Markers Using Quantitative Proteomics

Author(s): 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
Published in: Journal of Proteome Research, Issue 12/12, 2013, Page(s) 5696-5708, ISSN 1535-3893
DOI: 10.1021/pr400662k

High carrier frequency of 21-hydroxylase deficiency in Cyprus

Author(s): AAP Phedonos, C Shammas, N Skordis, TC Kyriakides, V Neocleous, LA Phylactou
Published in: Clinical Genetics, Issue 84/6, 2013, Page(s) 585-588, ISSN 0009-9163
DOI: 10.1111/cge.12153

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

Author(s): Jan Richter, Christina Tryfonos, Christakis Panagiotou, Elpiniki Nikolaou, Maria Koliou, Christina Christodoulou
Published in: International Journal of Infectious Diseases, Issue 17/12, 2013, Page(s) e1245-e1248, ISSN 1201-9712
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

Author(s): Christos Shammas, Vassos Neocleous, Marie M. Phelan, Lu-Yun Lian, Nicos Skordis, Leonidas A. Phylactou
Published in: Metabolism, Issue 62/11, 2013, Page(s) 1535-1542, ISSN 0026-0495
DOI: 10.1016/j.metabol.2013.06.007

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

Author(s): George A Tanteles, Abhijit Dixit, Sunil Dhar, Mohnish Suri
Published in: American Journal of Medical Genetics Part A, Issue 161A/10, 2013, Page(s) n/a-n/a, ISSN 1552-4825
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

Author(s): C. Sismani, J. Donoghue, A Alexandrou, M. Karkaletsi, S. Christopoulou, A.E. Konstantinidou, P. Livanos, P.C. Patsalis, V. Velissariou
Published in: Gene, Issue 530/1, 2013, Page(s) 138-142, ISSN 0378-1119
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

Author(s): Meropi Toumba, Vassos Neocleous, Christos Shammas, Violetta Anastasiadou, Jeremy Allgrove, Leonidas A. Phylactou, Nicos Skordis
Published in: Journal of Pediatric Endocrinology and Metabolism, Issue 26/9-10, 2013, Page(s) 987-993, ISSN 0334-018X
DOI: 10.1515/jpem-2013-0019

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

Author(s): Christina Votsi
Published in: World Journal of Neurology, Issue 3/4, 2013, Page(s) 115, ISSN 2218-6212
DOI: 10.5316/wjn.v3.i4.115

Alterations of juxtaparanodal domains in two rodent models of CNS demyelination

Author(s): Lida Zoupi, Kyriaki Markoullis, Kleopas A. Kleopa, Domna Karagogeos
Published in: Glia, Issue 61/8, 2013, Page(s) 1236-1249, ISSN 0894-1491
DOI: 10.1002/glia.22511

miR-186 Inhibits Muscle Cell Differentiation through Myogenin Regulation

Author(s): Antonis Antoniou, Nikolaos P. Mastroyiannopoulos, James B. Uney, Leonidas A. Phylactou
Published in: Journal of Biological Chemistry, Issue 289/7, 2014, Page(s) 3923-3935, ISSN 0021-9258
DOI: 10.1074/jbc.M113.507343

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

Author(s): Charita M. Christou, Andreas Hadjisavvas, Maria Kyratzi, Christina Flouri, Ioanna Neophytou, Violetta Anastasiadou, Maria A. Loizidou, Kyriacos Kyriacou
Published in: PLoS ONE, Issue 9/4, 2014, Page(s) e93400, ISSN 1932-6203
DOI: 10.1371/journal.pone.0093400

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

Author(s): Pavlos Fanis, Ioanna Kousiappa, Marios Phylactides, Marina Kleanthous
Published in: BMC Genomics, Issue 15/1, 2014, Page(s) 108, ISSN 1471-2164
DOI: 10.1186/1471-2164-15-108

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

Author(s): Theodoros Georgiou, George Christopoulos, Violetta Anastasiadou, Stavros Hadjiloizou, David Cregeen, Marie Jackson, Gavriella Mavrikiou, Marina Kleanthous, Anthi Drousiotou
Published in: Meta Gene, Issue 2, 2014, Page(s) 200-205, ISSN 2214-5400
DOI: 10.1016/j.mgene.2014.01.007

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

Author(s): Christoforos D. Giannaki, Georgios M. Hadjigeorgiou, Christina Karatzaferi, Marios C. Pantzaris, Ioannis Stefanidis, Giorgos K. Sakkas
Published in: Kidney International, Issue 85/6, 2014, Page(s) 1275-1282, ISSN 0085-2538
DOI: 10.1038/ki.2013.394

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

Author(s): Theodoros Georgiou, Paola Nicolaidou, Anastasia Hadjichristou, Rodothea Ioannou, Maria Dionysiou, Elli Siama, Georgia Chappa, Violetta Anastasiadou, Anthi Drousiotou
Published in: Clinical Biochemistry, Issue 47/13-14, 2014, Page(s) 1300-1305, ISSN 0009-9120
DOI: 10.1016/j.clinbiochem.2014.06.017

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

Author(s): Marios Ioannides, Elisavet A Papageorgiou, Anna Keravnou, Evdokia Tsaliki, Christiana Spyrou, Michael Hadjidaniel, Carolina Sismani, George Koumbaris, Philippos C Patsalis
Published in: Molecular Cytogenetics, Issue 7/1, 2014, Page(s) 1-8, ISSN 1755-8166
DOI: 10.1186/s13039-014-0073-8

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

Author(s): Maria Koliou, Evaggelia Karaoli, Elpidoforos S Soteriades, Sylvie Pavlides, Stavros Bashiardes, Christina Christodoulou
Published in: BMC Pediatrics, Issue 14/1, 2014, Page(s) 6, ISSN 1471-2431
DOI: 10.1186/1471-2431-14-6

Gene delivery targeted to oligodendrocytes using a lentiviral vector

Author(s): Alexia Kagiava, Irene Sargiannidou, Stavros Bashiardes, Jan Richter, Natasa Schiza, Christina Christodoulou, Angela Gritti, Kleopas A. Kleopa
Published in: The Journal of Gene Medicine, Issue 16/11-12, 2014, Page(s) 364-373, ISSN 1099-498X
DOI: 10.1002/jgm.2813

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

Author(s): Georgios Koutsis, Athina Kladi, Georgia Karadima, Henry Houlden, Nicholas W. Wood, Kyproula Christodoulou, Marios Panas
Published in: Journal of the Neurological Sciences, Issue 336/1-2, 2014, Page(s) 87-92, ISSN 0022-510X
DOI: 10.1016/j.jns.2013.10.012

IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology

Author(s): Petros Kountouris, Carsten W. Lederer, Pavlos Fanis, Xenia Feleki, John Old, Marina Kleanthous
Published in: PLoS ONE, Issue 9/7, 2014, Page(s) e103020, ISSN 1932-6203
DOI: 10.1371/journal.pone.0103020

A study of hereditary ataxias in the Greek population

Author(s): Georgios Koutsis, Athina Kladi, Georgia Karadima, Henry Houlden, Nicholas W. Wood, Kyproula Christodoulou, Marios Panas
Published in: Archives of Hellenic Medicine (Greek), Issue 31/4, 2014, Page(s) 433-445, ISSN 11-05-3992

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

Author(s): Elena Kypri, Andri Christodoulou, Giannis Maimaris, Mette Lethan, Maria Markaki, Costas Lysandrou, Carsten W. Lederer, Nektarios Tavernarakis, Stefan Geimer, Lotte B. Pedersen, Niovi Santama
Published in: Cellular and Molecular Life Sciences, Issue 71/3, 2014, Page(s) 517-538, ISSN 1420-682X
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

Author(s): Carsten W. Lederer, Eleni Pavlou, Christiana Makariou, Georgia Hadjilambi, Nicoletta Andreou, Michael Hadjigavriel, Annita Kolnagou, Maria Sitarou, Soteroulla Christou, Marina Kleanthous
Published in: Annals of Hematology, Issue 93/9, 2014, Page(s) 1625-1627, ISSN 0939-5555
DOI: 10.1007/s00277-013-1996-6

The Mutational Spectrum of Lynch Syndrome in Cyprus

Author(s): 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
Published in: PLoS ONE, Issue 9/8, 2014, Page(s) e105501, ISSN 1932-6203
DOI: 10.1371/journal.pone.0105501

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

Author(s): Kyriaki Markoullis, Irene Sargiannidou, Natasa Schiza, Federico Roncaroli, Richard Reynolds, Kleopas A. Kleopa
Published in: Journal of Neuropathology & Experimental Neurology, Issue 73/9, 2014, Page(s) 865-879, ISSN 0022-3069
DOI: 10.1097/NEN.0000000000000106

Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects

Author(s): Vassos Neocleous, Constantina Costi, Christos Shammas, Elena Spanou, Violetta Anastasiadou, George A. Tanteles, Leonidas A. Phylactou
Published in: Journal of Genetics, Issue 93/2, 2014, Page(s) 471-476, ISSN 0022-1333

Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations

Author(s): Vassos Neocleous, Christos Shammas, AlexiaAP Phedonos, LeonidasA Phylactou, Nicos Skordis
Published in: Indian Journal of Endocrinology and Metabolism, Issue 18/7, 2014, Page(s) 72, ISSN 2230-8210
DOI: 10.4103/2230-8210.145077

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

Author(s): Vassos Neocleous, Panayiotis K. Yiallouros, George A. Tanteles, Constantina Costi, Maria Moutafi, Phivos Ioannou, Philippos C. Patsalis, Carolina Sismani, Leonidas A. Phylactou
Published in: Case Reports in Genetics, Issue 2014, 2014, Page(s) 1-4, ISSN 2090-6544
DOI: 10.1155/2014/613863

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

Author(s): C. PANAYIOTOU, J. RICHTER, S. BASHIARDES, D. KOPTIDES, C. TRYFONOS, C. CHRISTODOULOU
Published in: Epidemiology and Infection, Issue 142/05, 2014, Page(s) 975-983, ISSN 0950-2688
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

Author(s): C. PANAYIOTOU, J. RICHTER, M. KOLIOU, N. KALOGIROU, E. GEORGIOU, C. CHRISTODOULOU
Published in: Epidemiology and Infection, Issue 142/11, 2014, Page(s) 2406-2411, ISSN 0950-2688
DOI: 10.1017/S0950268814000028

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

Author(s): Katerina Oikonomopoulou, Davor Brinc, Andreas Hadjisavvas, Georgios Christofi, Kyriacos Kyriacou, Eleftherios P. Diamandis
Published in: Critical Reviews in Clinical Laboratory Sciences, Issue 51/3, 2014, Page(s) 138-148, ISSN 1040-8363
DOI: 10.3109/10408363.2014.886180

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

Author(s): Savvas S. Papacostas, Panayiota Myrianthopoulou, Stelios Georgiades, Eleftherios S. Papathanasiou
Published in: Psychiatriki, Issue 25/3, 2014, Page(s) 217-221, ISSN 1105-2333

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

Author(s): Evridiki Papastavrou, Panayiota Andreou, Nicos Middleton, Savvas Papacostas, Irini Kyriacou Georgiou
Published in: International Psychogeriatrics, Issue 26/03, 2014, Page(s) 443-452, ISSN 1041-6102
DOI: 10.1017/S104161021300224X

Cervical Vestibular Evoked Myogenic Potentials in Cerebellar Lesions

Author(s): Savvas S. Papacostas, Eleftherios Stelios Papathanasiou, Theodoros Kyriakides, Marios Pantzaris
Published in: Otology & Neurotology, Issue 35/9, 2014, Page(s) 1633-1637, ISSN 1531-7129
DOI: 10.1097/MAO.0000000000000462

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

Author(s): Elisavet Papageorgiou, George Koumbaris, Elena Kypri, Michael Hadjidaniel, Philippos Patsalis
Published in: Genes, Issue 5/2, 2014, Page(s) 310-329, ISSN 2073-4425
DOI: 10.3390/genes5020310

The exhaustibility of Lambert-Eaton myasthenic syndrome

Author(s): Eleftherios S. Papathanasiou, Eleni Zamba-Papanicolaou
Published in: Clinical Neurophysiology, Issue 125/2, 2014, Page(s) 220, ISSN 1388-2457
DOI: 10.1016/j.clinph.2013.09.022

The role of ubiquitin-binding domains in human pathophysiology

Author(s): Kleitos Sokratous, Andreas Hadjisavvas, Eleftherios P. Diamandis, Kyriacos Kyriacou
Published in: Critical Reviews in Clinical Laboratory Sciences, Issue 51/5, 2014, Page(s) 280-290, ISSN 1040-8363
DOI: 10.3109/10408363.2014.915287

A Novel GBA2 Gene Missense Mutation in Spastic Ataxia

Author(s): Christina Votsi, Eleni Zamba-Papanicolaou, Lefkos T. Middleton, Marios Pantzaris, Kyproula Christodoulou
Published in: Annals of Human Genetics, Issue 78/1, 2014, Page(s) 13-22, ISSN 0003-4800
DOI: 10.1111/ahg.12045

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

Author(s): George A. Tanteles, Elena Spanou-Aristidou, Chloe Antoniou, Violetta Christophidou-Anastasiadou, Kleopas A. Kleopa
Published in: Journal of the Neurological Sciences, Issue 340/1-2, 2014, Page(s) 233-236, ISSN 0022-510X
DOI: 10.1016/j.jns.2014.03.001

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

Author(s): George A. Tanteles, Violetta Christophidou-Anastasiadou
Published in: Clinical Dysmorphology, Issue 23/1, 2014, Page(s) 20-23, ISSN 0962-8827
DOI: 10.1097/MCD.0000000000000013

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

Author(s): 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
Published in: Clinical Genetics, Issue 87/5, 2015, Page(s) 461-466, ISSN 0009-9163
DOI: 10.1111/cge.12420

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

Author(s): 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,
Published in: Journal of Autoimmunity, Issue 52, 2014, Page(s) 139-145, ISSN 0896-8411
DOI: 10.1016/j.jaut.2013.12.004

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

Author(s): Christiana A. Demetriou, Karin van Veldhoven, Caroline Relton, Silvia Stringhini, Kyriacos Kyriacou, Paolo Vineis
Published in: European Journal of Clinical Investigation, Issue 45/3, 2015, Page(s) 303-332, ISSN 0014-2972
DOI: 10.1111/eci.12406

Recent trends in the gene therapy of β-thalassemia

Author(s): Roberto Gambari, Alessia Finotti, Laura Breda, Carsten Lederer, Nicoletta Bianchi, Cristina Zuccato, Marina Klenathous, Stefano Rivella
Published in: Journal of Blood Medicine, Issue 6, 2015, Page(s) 69, ISSN 1179-2736
DOI: 10.2147/JBM.S46256

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

Author(s): Alexia Kagiava, George Theophilidis, Irene Sargiannidou, Kyriacos Kyriacou, Kleopas A. Kleopa
Published in: Neuropharmacology, Issue 97, 2015, Page(s) 289-305, ISSN 0028-3908
DOI: 10.1016/j.neuropharm.2015.05.021

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

Author(s): Maria G. Kakkoura, Christiana A. Demetriou, Maria A. Loizidou, Giorgos Loucaides, Ioanna Neophytou, Yiola Marcou, Andreas Hadjisavvas, Kyriacos Kyriacou
Published in: Genes & Nutrition, Issue 10/2, 2015, Page(s) 453, ISSN 1555-8932
DOI: 10.1007/s12263-015-0453-7

Molecular Basis of  -Thalassemia in Qatari Pediatric Population

Author(s): M. Kamal, R. Badii, S. Abu Sariya, A. Abu-Dayya, M. Kleanthous, A. Amer, H. Abdulrahman
Published in: PEDIATRICS, Issue 135/Supplement, 2015, Page(s) S18-S19, ISSN 0031-4005
DOI: 10.1542/peds.2014-3330II

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

Author(s): 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
Published in: Blood, Issue 126/5, 2015, Page(s) 616-619, ISSN 0006-4971
DOI: 10.1182/blood-2015-03-629618

Differential modulation of the juxtaparanodal complex in Multiple Sclerosis

Author(s): Maria E. Kastriti, Irene Sargiannidou, Kleopas A. Kleopa, Domna Karagogeos
Published in: Molecular and Cellular Neuroscience, Issue 67, 2015, Page(s) 93-103, ISSN 1044-7431
DOI: 10.1016/j.mcn.2015.06.005

Dysbetalipoproteinemia: Two cases report and a diagnostic algorithm

Author(s): Anastazia Kei
Published in: World Journal of Clinical Cases, Issue 3/4, 2015, Page(s) 371, ISSN 2307-8960
DOI: 10.12998/wjcc.v3.i4.371

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

Author(s): 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
Published in: Gene, Issue 561/1, 2015, Page(s) 95-100, ISSN 0378-1119
DOI: 10.1016/j.gene.2015.02.018

Connexins, gap junctions and peripheral neuropathy

Author(s): Kleopas A. Kleopa, Irene Sargiannidou
Published in: Neuroscience Letters, Issue 596, 2015, Page(s) 27-32, ISSN 0304-3940
DOI: 10.1016/j.neulet.2014.10.033

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

Author(s): 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
Published in: Annals of Human Genetics, Issue 79/1, 2015, Page(s) 20-27, ISSN 0003-4800
DOI: 10.1111/ahg.12087

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

Author(s): Andrie Koutsoulidou, Tassos C. Kyriakides, George K. Papadimas, Yiolanda Christou, Evangelia Kararizou, Eleni Zamba Papanicolaou, Leonidas A. Phylactou
Published in: PLOS ONE, Issue 10/4, 2015, Page(s) e0125341, ISSN 1932-6203
DOI: 10.1371/journal.pone.0125341

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

Author(s): Costas Koufaris, Carolina Sismani
Published in: International Journal of Molecular Sciences, Issue 16/4, 2015, Page(s) 8699-8718, ISSN 1422-0067
DOI: 10.3390/ijms16048699

Status epilepticus developing during lacosamide monotherapy

Author(s): S. S. Papacostas
Published in: Case Reports, Issue 2015/jan27 1, 2015, Page(s) bcr2014206354-bcr2014206354, ISSN 1757-790X
DOI: 10.1136/bcr-2014-206354

MicroRNA responses to environmental liver carcinogens: Biological and clinical significance

Author(s): Vicky Nicolaidou, Costas Koufaris
Published in: Clinica Chimica Acta, Issue 445, 2015, Page(s) 25-33, ISSN 0009-8981
DOI: 10.1016/j.cca.2015.03.006

Minimally symptomatic mcardle disease, expanding the genotype-phenotype spectrum

Author(s): Petros Petrou, Marios Pantzaris, Maria Dionysiou, Anthi Drousiotou, Theodoros Kyriakides
Published in: Muscle & Nerve, Issue 52/5, 2015, Page(s) 891-895, ISSN 0148-639X
DOI: 10.1002/mus.24716

Molecular epidemiology of rhinoviruses in Cyprus over three consecutive seasons

Author(s): J. RICHTER, E. NIKOLAOU, C. PANAYIOTOU, C. TRYFONOS, M. KOLIOU, C. CHRISTODOULOU
Published in: Epidemiology and Infection, Issue 143/09, 2015, Page(s) 1876-1883, ISSN 0950-2688
DOI: 10.1017/S0950268814002933

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

Author(s): Irene Sargiannidou, Alexia Kagiava, Stavros Bashiardes, Jan Richter, Christina Christodoulou, Steven S. Scherer, Kleopas A. Kleopa
Published in: Annals of Neurology, Issue 78/2, 2015, Page(s) 303-316, ISSN 0364-5134
DOI: 10.1002/ana.24441

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

Author(s): Irene Sargiannidou, Gun-Ha Kim, Styliana Kyriakoudi, Baik-Lin Eun, Kleopas A. Kleopa
Published in: neurogenetics, Issue 16/3, 2015, Page(s) 193-200, ISSN 1364-6745
DOI: 10.1007/s10048-015-0442-4

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

Author(s): Carolina Sismani, Georgia Christopoulou, Angelos Alexandrou, Paola Evangelidou, Jacqueline Donoghue, Anastasia E. Konstantinidou, Voula Velissariou
Published in: Case Reports in Genetics, Issue 2015, 2015, Page(s) 1-6, ISSN 2090-6544
DOI: 10.1155/2015/517678

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

Author(s): N. Schiza, I. Sargiannidou, A. Kagiava, C. Karaiskos, M. Nearchou, K. A. Kleopa
Published in: Human Molecular Genetics, Issue 24/7, 2015, Page(s) 2049-2064, ISSN 0964-6906
DOI: 10.1093/hmg/ddu725

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

Author(s): Corrinne V. Segal, Costas Koufaris, Chris Powell, Nigel J. Gooderham
Published in: Toxicology, Issue 333, 2015, Page(s) 45-52, ISSN 0300-483X
DOI: 10.1016/j.tox.2015.04.002

Genetic defects of the CYP21A2 gene in girls with premature adrenarche

Author(s): N. Skordis, C. Shammas, A. A. P. Phedonos, A. Kyriakou, M. Toumba, V. Neocleous, L. A. Phylactou
Published in: Journal of Endocrinological Investigation, Issue 38/5, 2015, Page(s) 535-539, ISSN 1720-8386
DOI: 10.1007/s40618-014-0223-1

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

Author(s): George A. Tanteles, Angelos Alexandrou, Paola Evangelidou, Marina Gavatha, Violetta Anastasiadou, Carolina Sismani
Published in: American Journal of Medical Genetics Part A, Issue 167/3, 2015, Page(s) 664-669, ISSN 1552-4825
DOI: 10.1002/ajmg.a.36945

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

Author(s): George A. Tanteles, Sofia Michaelidou, Eleni Loukianou, Violetta Christophidou-Anastasiadou, Kleopas A. Kleopa
Published in: Clinical Dysmorphology, Issue 24/3, 2015, Page(s) 102-105, ISSN 0962-8827
DOI: 10.1097/MCD.0000000000000074

Genetic findings of Cypriot spinal muscular atrophy patients

Author(s): L. Theodorou, P. Nicolaou, P. Koutsou, A. Georghiou, V. Anastasiadou, G. Tanteles, T. Kyriakides, E. Zamba-Papanicolaou, K. Christodoulou
Published in: Neurological Sciences, Issue 36/10, 2015, Page(s) 1829-1834, ISSN 1590-1874
DOI: 10.1007/s10072-015-2263-5

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

Author(s): 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
Published in: Glia, Issue 63/10, 2015, Page(s) 1772-1783, ISSN 0894-1491
DOI: 10.1002/glia.22843

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

Author(s): 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
Published in: Journal of Neuroimmunology, Issue 284, 2015, Page(s) 10-17, ISSN 0165-5728
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

Author(s): Stavroulla Xenophontos, Vasilis Christofi, George Iosif, Pavlos Polycarpou, Panayiotis Manoli, Nafsika Demetriou, Marios A. Cariolou
Published in: Forensic Science International: Genetics, Issue 14, 2015, Page(s) e8-e10, ISSN 1872-4973
DOI: 10.1016/j.fsigen.2014.10.020

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

Author(s): Panayiotis K. Yiallouros, Panayiotis Kouis, Nicos Middleton, Marianna Nearchou, Tonia Adamidi, Andreas Georgiou, Adonis Eleftheriou, Phivos Ioannou, Andreas Hadjisavvas, Kyriacos Kyriacou
Published in: Respiratory Medicine, Issue 109/3, 2015, Page(s) 347-356, ISSN 0954-6111
DOI: 10.1016/j.rmed.2015.01.015

Computational Drug Repurposing for Neurodegenerative Diseases

Author(s): Kyriaki Savva, Margarita Zachariou, Anastasis Oulas, George Minadakis, Kleitos Socratous, Nikolas Dietis and George M. Spyrou
Published in: 2019

An application of computational drug repurposing based on transcriptomic signatures

Author(s): E. Karatzas, G. Kolios and G. M. Spyrou
Published in: Computational Methods for Drug Repurposing, 2019

Detecting and targeting RNA: Biomarkers and therapy for Myotonic Dystrophy

Author(s): Nikolaos P. Mastroyiannopoulos, Andrie Koutsoulidou and Leonidas A. Phylactou
Published in: 2015

Intrathecal Delivery of Viral Vectors for Gene Therapy

Author(s): Alexia Kagiava, Kleopas A. Kleopa
Published in: Myelin - Methods and Protocols, Issue 1791, 2018, Page(s) 277-285
DOI: 10.1007/978-1-4939-7862-5_22

Meta-Analysis of Common and Rare Variants

Author(s): Kyriaki Michailidou
Published in: Genetic Epidemiology, Issue 1793, 2018, Page(s) 73-88
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

Author(s): Rena Papachristoforou, Petros P. Petrou, Hilary Sawyer, Maggie Williams, Anthi Drousiotou
Published in: JIMD Reports - Volume 12, Issue 12, 2014, Page(s) 91-98
DOI: 10.1007/8904_2013_249

Genomic Arrayis in Prenatal Diagnosis

Author(s): Paola Evangelidou, Carolina Sismani
Published in: 2017

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

Author(s): Manolis Christodoulakis, Avgis Hadjipapas, Eleftherios S. Papathanasiou, Maria Anastasiadou, Savvas S. Papacostas, Georgios D. Mitsis
Published in: 2014 36th Annual International Conference of the IEEE Engineering in Medicine and Biology Society, Issue 2014, 2014, Page(s) 2805-2808
DOI: 10.1109/EMBC.2014.6944206

Datasets

Informed walks: whispering hints to gene hunters inside networksâ jungle

Author(s): Bourdakou, Marilena,Spyrou, George
Published in: Figshare