Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms

por Sargiannidou, Irene, Christophidou-Anastasiadou, Violetta, Hadjisavvas, Andreas, Tanteles, George A., Kleopa, Kleopas A.
Publicado 2021

The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes

por Fanis, Pavlos, Skordis, Nicos, Toumba, Meropi, Picolos, Michalis, Tanteles, George A., Neocleous, Vassos, Phylactou, Leonidas A.
Publicado 2023

Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports

por Keravnou, Anna, Bashiardes, Evy, Barberis, Vassilis, Michailidou, Kyriaki, Soteriou, Marinos, Tanteles, George A., Cariolou, Marios A.
Publicado 2020

A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature

por Nicolaou, Paschalis, Tanteles, George A., Votsi, Christina, Zamba-Papanicolaou, Eleni, Papacostas, Savvas S., Christodoulou, Kyproula, Christou, Yiolanda-Panayiota
Publicado 2021

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

por Tanteles, George A., Nikolaou, Elpiniki, Christou, Yiolanda, Alexandrou, Angelos, Evangelidou, Paola, Christophidou-Anastasiadou, Violetta, Sismani, Carolina, Papacostas, Savvas S.
Publicado 2015

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

por Neocleous, Vassos, Yiallouros, Panayiotis K., Tanteles, George A., Costi, Constantina, Moutafi, Maria, Ioannou, Phivos, Patsalis, Philippos C., Sismani, Carolina, Phylactou, Leonidas A.
Publicado 2014

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

por Christou, Yiolanda-Panayiota, Tanteles, George A., Kkolou, Elena, Ormiston, Annita, Konstantopoulos, Kostas, Beconi, Maria, Marshall, Randall D., Plotkin, Horacio, Kleopa, Kleopas A.
Publicado 2017

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

por Syrimis, Andreas, Nicolaou, Nayia, Alexandrou, Angelos, Papaevripidou, Ioannis, Nicolaou, Michael, Loukianou, Eleni, Sismani, Carolina, Malas, Stavros, Christophidou-Anastasiadou, Violetta, Tanteles, George A.
Publicado 2018

A de novo SFMBT1 pathogenic variant identified in a boy with Poland syndrome

por Miltiadous, Andri, Demetriou, Philippos, Kyriakou, Maria, Gerasimou, Petroula, Herodotou, George, Elpidoforou, Agathi, Kyprianou, Yiannos, Iacovou, Maria, Chi, Jianxiang, Costeas, Paul, Tanteles, George A.
Publicado 2022

Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing

por Aristidou, Constantia, Theodosiou, Athina, Alexandrou, Angelos, Papaevripidou, Ioannis, Evangelidou, Paola, Kosmaidou-Aravidou, Zoe, Behjati, Farkhondeh, Christophidou-Anastasiadou, Violetta, Tanteles, George A., Sismani, Carolina
Publicado 2022

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene

por Alexandrou, Angelos, Salameh, Nicole, Papaevripidou, Ioannis, Nicolaou, Nayia, Myrianthopoulos, Panayiotis, Ketoni, Andria, Kousoulidou, Ludmila, Anastasiou, Anna-Maria, Evangelidou, Paola, Tanteles, George A., Sismani, Carolina
Publicado 2023

Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population

por Kritioti, Evie, Theodosiou, Athina, Parpaite, Thibaud, Alexandrou, Angelos, Nicolaou, Nayia, Papaevripidou, Ioannis, Séjourné, Nina, Coste, Bertrand, Christophidou-Anastasiadou, Violetta, Tanteles, George A., Sismani, Carolina
Publicado 2021

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

por Georgiou, Theodoros, Mavrikiou, Gavriella, Alexandrou, Angelos, Spanou-Aristidou, Elena, Savva, Isavella, Christodoulides, Theodoros, Krasia, Maria, Christophidou-Anastasiadou, Violetta, Sismani, Carolina, Drousiotou, Anthi, Tanteles, George A.
Publicado 2016

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

por Neocleous, Vassos, Fanis, Pavlos, Toumba, Meropi, Phedonos, Alexia A. P., Picolos, Michalis, Andreou, Elena, Kyriakides, Tassos C., Tanteles, George A., Shammas, Christos, Phylactou, Leonidas A., Skordis, Nicos
Publicado 2017

NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of BRCA-Negative Cases

por Zanti, Maria, Loizidou, Maria A., Michailidou, Kyriaki, Pirpa, Panagiota, Machattou, Christina, Marcou, Yiola, Kyriakou, Flora, Kakouri, Eleni, Tanteles, George A., Spanou, Elena, Spyrou, George M., Kyriacou, Kyriacos, Hadjisavvas, Andreas
Publicado 2020

The Mutational Spectrum of Lynch Syndrome in Cyprus

por Loizidou, Maria A., Neophytou, Ioanna, Papamichael, Demetris, Kountourakis, Panteleimon, Vassiliou, Vassilios, Marcou, Yiola, Kakouri, Eleni, Ioannidis, Georgios, Philippou, Chrystalla, Spanou, Elena, Tanteles, George A., Anastasiadou, Violetta, Hadjisavvas, Andreas, Kyriacou, Kyriacos
Publicado 2014

GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of...

por Neocleous, Vassos, Fanis, Pavlos, Toumba, Meropi, Tanteles, George A., Schiza, Melpo, Cinarli, Feride, Nicolaides, Nicolas C., Oulas, Anastasis, Spyrou, George M., Mantzoros, Christos S., Vlachakis, Dimitrios, Skordis, Nicos, Phylactou, Leonidas A.
Publicado 2020

Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstra...

por Yiallouros, Panayiotis K., Matthaiou, Andreas Μ., Anagnostopoulou, Pinelopi, Kouis, Panayiotis, Libik, Malgorzata, Adamidi, Tonia, Eleftheriou, Adonis, Demetriou, Artemios, Ioannou, Phivos, Tanteles, George A., Costi, Constantina, Fanis, Pavlos, Macek, Milan, Neocleous, Vassos, Phylactou, Leonidas A.
Publicado 2021

Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty

por Neocleous, Vassos, Fanis, Pavlos, Toumba, Meropi, Gorka, Barbara, Kousiappa, Ioanna, Tanteles, George A., Iasonides, Michalis, Nicolaides, Nicolas C., Christou, Yiolanda P., Michailidou, Kyriaki, Nicolaou, Stella, Papacostas, Savvas S., Christoforidis, Athanasios, Kyriakou, Andreas, Vlachakis, Dimitrios, Skordis, Nicos, Phylactou, Leonidas A.
Publicado 2021

Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia

por Kakouri, Andrea C., Votsi, Christina, Oulas, Anastasis, Nicolaou, Paschalis, Aureli, Massimo, Lunghi, Giulia, Samarani, Maura, Compagnoni, Giacomo M., Salani, Sabrina, Di Fonzo, Alessio, Christophides, Thalis, Tanteles, George A., Zamba-Papanicolaou, Eleni, Pantzaris, Marios, Spyrou, George M., Christodoulou, Kyproula
Publicado 2022