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

by Anna Keravnou, Evy Bashiardes, Vassilis Barberis, Kyriaki Michailidou, Marinos Soteriou, George A. Tanteles, Marios A. Cariolou
Published 2020-09-01

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

by George A. Tanteles, Elpiniki Nikolaou, Yiolanda Christou, Angelos Alexandrou, Paola Evangelidou, Violetta Christophidou-Anastasiadou, Carolina Sismani, Savvas S. Papacostas
Published 2015-01-01

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

by Irene Sargiannidou, Violetta Christophidou-Anastasiadou, Violetta Christophidou-Anastasiadou, Andreas Hadjisavvas, George A. Tanteles, Kleopas A. Kleopa, Kleopas A. Kleopa, Kleopas A. Kleopa
Published 2021-01-01

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

by Yiolanda-Panayiota Christou, George A. Tanteles, Elena Kkolou, Annita Ormiston, Kostas Konstantopoulos, Maria Beconi, Randall D. Marshall, Horacio Plotkin, Kleopas A. Kleopa
Published 2017-01-01

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

by Vassos Neocleous, Panayiotis K. Yiallouros, George A. Tanteles, Constantina Costi, Maria Moutafi, Phivos Ioannou, Philippos C. Patsalis, Carolina Sismani, Leonidas A. Phylactou
Published 2014-01-01

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

by Evie Kritioti, Athina Theodosiou, Thibaud Parpaite, Angelos Alexandrou, Nayia Nicolaou, Ioannis Papaevripidou, Nina Séjourné, Bertrand Coste, Violetta Christophidou-Anastasiadou, George A Tanteles, Carolina Sismani
Published 2021-01-01

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

by 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 2016-01-01

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

by 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 2017-01-01

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

by Maria Zanti, Maria A. Loizidou, Kyriaki Michailidou, Panagiota Pirpa, Christina Machattou, Yiola Marcou, Flora Kyriakou, Eleni Kakouri, George A. Tanteles, Elena Spanou, George M. Spyrou, Kyriacos Kyriacou, Andreas Hadjisavvas
Published 2020-10-01

The mutational spectrum of Lynch syndrome in cyprus.

by 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 2014-01-01

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...

by Vassos Neocleous, Vassos Neocleous, Pavlos Fanis, Pavlos Fanis, Meropi Toumba, Meropi Toumba, George A. Tanteles, George A. Tanteles, Melpo Schiza, Melpo Schiza, Feride Cinarli, Feride Cinarli, Nicolas C. Nicolaides, Nicolas C. Nicolaides, Anastasis Oulas, Anastasis Oulas, George M. Spyrou, George M. Spyrou, Christos S. Mantzoros, Christos S. Mantzoros, Dimitrios Vlachakis, Dimitrios Vlachakis, Dimitrios Vlachakis, Nicos Skordis, Nicos Skordis, Nicos Skordis, Leonidas A. Phylactou, Leonidas A. Phylactou
Published 2020-08-01

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

by Panayiotis K. Yiallouros, Andreas Μ. Matthaiou, Pinelopi Anagnostopoulou, Panayiotis Kouis, Malgorzata Libik, Tonia Adamidi, Adonis Eleftheriou, Artemios Demetriou, Phivos Ioannou, George A. Tanteles, Constantina Costi, Pavlos Fanis, Milan Macek, Vassos Neocleous, Leonidas A. Phylactou
Published 2021-10-01

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

by Vassos Neocleous, Vassos Neocleous, Pavlos Fanis, Pavlos Fanis, Meropi Toumba, Meropi Toumba, Barbara Gorka, Ioanna Kousiappa, Ioanna Kousiappa, George A. Tanteles, George A. Tanteles, Michalis Iasonides, Michalis Iasonides, Nicolas C. Nicolaides, Nicolas C. Nicolaides, Yiolanda P. Christou, Yiolanda P. Christou, Kyriaki Michailidou, Kyriaki Michailidou, Stella Nicolaou, Savvas S. Papacostas, Savvas S. Papacostas, Savvas S. Papacostas, Savvas S. Papacostas, Athanasios Christoforidis, Andreas Kyriakou, Andreas Kyriakou, Dimitrios Vlachakis, Dimitrios Vlachakis, Dimitrios Vlachakis, Nicos Skordis, Nicos Skordis, Nicos Skordis, Leonidas A. Phylactou, Leonidas A. Phylactou
Published 2021-09-01