Intrafamilial Phenotype Variability in Two Male Siblings, With X-linked Juvenile Retinoschisis and Dorzolamide Treatment Effect in the Natural History of the Disease

por CHRISTODOULOU, Panayiotis, TANTELES, George, NIKOLAOU, Nayia, KATSIMBRIS, Ioannis, STEFANIOTOU, Maria
Publicado 2019

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

Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript

por Votsi, Christina, Koutsou, Pantelitsa, Ververis, Antonis, Georghiou, Anthi, Nicolaou, Paschalis, Tanteles, George, Christodoulou, Kyproula
Publicado 2023

Two unrelated individuals carrying rare mosaic deletions in TCF4 gene

por Kousoulidou, Ludmila, Alexandrou, Angelos, Papaevripidou, Ioannis, Evangelidou, Paola, Tanteles, George, Anastasiadou, Violetta C., Sismani, Carolina
Publicado 2018

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

De novo mosaic MECP2 mutation in a female with Rett syndrome

por Alexandrou, Angelos, Papaevripidou, Ioannis, Alexandrou, Ioanna Maria, Theodosiou, Athina, Evangelidou, Paola, Kousoulidou, Ludmila, Tanteles, George, Christophidou‐Anastasiadou, Violetta, Sismani, Carolina
Publicado 2019

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

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

por Aristidou, Constantia, Koufaris, Costas, Theodosiou, Athina, Bak, Mads, Mehrjouy, Mana M., Behjati, Farkhondeh, Tanteles, George, Christophidou-Anastasiadou, Violetta, Tommerup, Niels, Sismani, Carolina
Publicado 2017

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