Works by Tanteles, George A.

Results: 41

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

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.604806

By:

Sargiannidou, Irene;
Christophidou-Anastasiadou, Violetta;
Hadjisavvas, Andreas;
Tanteles, George A.;
Kleopa, Kleopas A.

Publication type:

Article

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

Published in:

2017

By:

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

Publication type:

Case Study

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

Published in:

Cell & Bioscience, 2022, v. 12, n. 1, p. 1, doi. 10.1186/s13578-022-00754-1

By:

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

Publication type:

Article

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

Published in:

Molecular Medicine Reports, 2018, v. 18, n. 2, p. 1623, doi. 10.3892/mmr.2018.9126

By:

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

Publication type:

Article

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

Published in:

2023

By:

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

Publication type:

Case Study

European lipodystrophy registry: background and structure.

Published in:

2020

By:

von Schnurbein, Julia;
Adams, Claire;
Akinci, Baris;
Ceccarini, Giovanni;
D'Apice, Maria Rosaria;
Gambineri, Alessandra;
Hennekam, Raoul C. M.;
Jeru, Isabelle;
Lattanzi, Giovanna;
Miehle, Konstanze;
Nagel, Gabriele;
Novelli, Giuseppe;
Santini, Ferruccio;
Santos Silva, Ermelinda;
Savage, David B.;
Sbraccia, Paolo;
Schaaf, Jannik;
Sorkina, Ekaterina;
Tanteles, George;
Vantyghem, Marie-Christine

Publication type:

journal article

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

Published in:

2020

By:

Dardiotis, Efthimios;
Andreou, Savanna;
Aloizou, Athina-Maria;
Panayiotou, Elena;
Siokas, Vasileios;
Ioannou, Mihaela Nedea;
Vounou, Emmelia;
Christodoulou, Kyproula;
Tanteles, George A.;
Michaelides, Demos;
Kyriakides, Theodoros

Publication type:

journal article

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

Published in:

Biomedical Reports, 2016, v. 4, n. 2, p. 215, doi. 10.3892/br.2015.559

By:

KOUFARIS, COSTAS;
ALEXANDROU, ANGELOS;
TANTELES, GEORGE A.;
ANASTASIADOU, VIOLETTA;
SISMANI, CAROLINA

Publication type:

Article

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

Published in:

Frontiers in Endocrinology, 2023, p. 01, doi. 10.3389/fendo.2023.1156616

By:

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

Publication type:

Article

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

Published in:

Annals of Human Genetics, 2015, v. 79, n. 1, p. 1, doi. 10.1111/ahg.12087

By:

Neocleous, Vassos;
Costi, Constantina;
Kyriakou, Christina;
Kyriakides, Tassos C;
Shammas, Christos;
Skordis, Nicos;
Toumba, Meropi;
Kyriakou, Sophia;
Koliou, Maria;
Kousparou, Marianna;
Onoufriou, Margarita;
Hadjipanayis, Adamos;
Iasonides, Michalis;
Atamyan, Vick N;
Pierides, Alkis;
Christophidou‐Anastasiadou, Violetta;
Tanteles, George A;
Phylactou, Leonidas A

Publication type:

Article

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

Published in:

Genes, 2023, v. 14, n. 1, p. 82, doi. 10.3390/genes14010082

By:

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

Publication type:

Article

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

Published in:

PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0169935

By:

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

Publication type:

Article

Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature.

Published in:

Journal of Genetics, 2018, v. 97, n. 2, p. 555, doi. 10.1007/s12041-018-0925-9

By:

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

Publication type:

Article

Evidence of digenic inheritance in autoinflammation-associated genes.

Published in:

Journal of Genetics, 2016, v. 95, n. 4, p. 761, doi. 10.1007/s12041-016-0691-5

By:

NEOCLEOUS, VASSOS;
BYROU, STEFANIA;
TOUMBA, MEROPI;
COSTI, CONSTANTINA;
SHAMMAS, CHRISTOS;
KYRIAKOU, CHRISTINA;
CHRISTOPHIDOU-ANASTASIADOU, VIOLETTA;
TANTELES, GEORGE;
HADJIPANAYIS, ADAMOS;
PHYLACTOU, LEONIDAS

Publication type:

Article

Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.

Published in:

Journal of Genetics, 2016, v. 95, n. 4, p. 839, doi. 10.1007/s12041-016-0698-y

By:

ALEXANDROU, ANGELOS;
PAPAEVRIPIDOU, IOANNIS;
TSANGARAS, KYRIAKOS;
ALEXANDROU, IOANNA;
TRYFONIDIS, MARIOS;
CHRISTOPHIDOU-ANASTASIADOU, VIOLETTA;
ZAMBA-PAPANICOLAOU, ELENI;
KOUMBARIS, GEORGE;
NEOCLEOUS, VASSOS;
PHYLACTOU, LEONIDAS;
SKORDIS, NICOS;
TANTELES, GEORGE;
SISMANI, CAROLINA

Publication type:

Article

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

Published in:

Journal of Genetics, 2015, v. 94, n. 4, p. 749, doi. 10.1007/s12041-015-0564-3

By:

TANTELES, GEORGE A.;
NICOLAOU, MICHAEL;
NEOCLEOUS, VASSOS;
SHAMMAS, CHRISTOS;
LOIZIDOU, MARIA A.;
ALEXANDROU, ANGELOS;
ELLINA, ELENA;
PATSIA, NASIA;
SISMANI, CAROLINA;
PHYLACTOU, LEONIDAS A.;
CHRISTOPHIDOU-ANASTASIADOU, VIOLETTA

Publication type:

Article

Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects.

Published in:

Journal of Genetics, 2014, v. 93, n. 2, p. 471, doi. 10.1007/s12041-014-0365-0

By:

NEOCLEOUS, VASSOS;
COSTI, CONSTANTINA;
SHAMMAS, CHRISTOS;
SPANOU, ELENA;
ANASTASIADOU, VIOLETTA;
TANTELES, GEORGE;
PHYLACTOU, LEONIDAS

Publication type:

Article

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

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 3, p. 1, doi. 10.1101/mcs.a006168

By:

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

Publication type:

Article

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

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.746101

By:

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

Publication type:

Article

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

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1241195

By:

Votsi, Christina;
Koutsou, Pantelitsa;
Ververis, Antonis;
Georghiou, Anthi;
Nicolaou, Paschalis;
Tanteles, George;
Christodoulou, Kyproula

Publication type:

Article

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

Published in:

Amyloid, 2018, v. 25, n. 4, p. 220, doi. 10.1080/13506129.2018.1534731

By:

Andreou, Savanna;
Panayiotou, Elena;
Michailidou, Kyriaki;
Pirpa, Panayiota;
Hadjisavvas, Andreas;
El Salloukh, Adonis;
Barnes, Daniel;
Antoniou, Antonis;
Agathangelou, Petros;
Papastavrou, Katia;
Christodoulou, Kyproula;
Tanteles, George A.;
Kyriakides, Theodoros

Publication type:

Article

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

Published in:

Hematology, 2017, v. 22, n. 5, p. 304, doi. 10.1080/10245332.2016.1265043

By:

Lederer, Carsten W.;
Pavlou, Eleni;
Tanteles, George A.;
Evangelidou, Paola;
Sismani, Carolina;
Kolnagou, Annita;
Sitarou, Maria;
Christou, Soteroulla;
Hadjigavriel, Michael;
Kleanthous, Marina

Publication type:

Article

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

Published in:

Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.745048

By:

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.

Publication type:

Article

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

Published in:

Cancers, 2020, v. 12, n. 11, p. 3140, doi. 10.3390/cancers12113140

By:

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

Publication type:

Article

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 the Literature.

Published in:

Frontiers in Endocrinology, 2020, v. 11, p. N.PAG, doi. 10.3389/fendo.2020.00626

By:

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.

Publication type:

Article

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

Published in:

2016

By:

LOIZIDOU, MARIA A.;
HADJISAVVAS, ANDREAS;
TANTELES, GEORGE A.;
SPANOU-ARISTIDOU, ELENA;
KYRIACOU, KYRIACOS;
CHRISTOPHIDOU-ANASTASIADOU, VIOLETTA

Publication type:

Case Study

Two unrelated individuals carrying rare mosaic deletions in TCF4 gene.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 134, doi. 10.1002/ajmg.a.60692

By:

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

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 754, doi. 10.1002/ajmg.a.37511

By:

Jones, Gabriela E.;
Robertson, Lisa;
Maniyar, Amit;
Shammas, Christos;
Phelan, Marie M.;
Vasudevan, Pradeep C.;
Tanteles, George A.

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 664, doi. 10.1002/ajmg.a.36945

By:

Tanteles, George A.;
Alexandrou, Angelos;
Evangelidou, Paola;
Gavatha, Marina;
Anastasiadou, Violetta;
Sismani, Carolina

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2588, doi. 10.1002/ajmg.a.36094

By:

Tanteles, George A;
Dixit, Abhijit;
Dhar, Sunil;
Suri, Mohnish

Publication type:

Article

Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09515-4

By:

Liampas, Andreas;
Nicolaou, Paschalis;
Votsi, Christina;
Georghiou, Anthi;
Christodoulou, Kyproula;
Tanteles, George A;
Pantzaris, Marios

Publication type:

Article

Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09515-4

By:

Liampas, Andreas;
Nicolaou, Paschalis;
Votsi, Christina;
Georghiou, Anthi;
Christodoulou, Kyproula;
Tanteles, George A;
Pantzaris, Marios

Publication type:

Article

De novo mosaic MECP2 mutation in a female with Rett syndrome.

Published in:

Clinical Case Reports, 2019, v. 7, n. 2, p. 366, doi. 10.1002/ccr3.1985

By:

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

Publication type:

Article

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

Published in:

2017

By:

Hadjichristou, Christina;
Christophidou-Anastasiadou, Violetta;
Bakopoulou, Athina;
Tanteles, George A.;
Loizidou, Maria A.;
Kyriacou, Kyriacos;
Hadjisavvas, Andreas;
Michalakis, Konstantinos;
Pissiotis, Argyris;
Koidis, Petros

Publication type:

journal article

The Mutational Spectrum of Lynch Syndrome in Cyprus.

Published in:

PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0105501

By:

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

Publication type:

Article

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata.

Published in:

Case Reports in Genetics, 2016, p. 1, doi. 10.1155/2016/5208312

By:

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.

Publication type:

Article

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

Published in:

2014

By:

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

Publication type:

Case Study

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

Published in:

PLoS ONE, 2021, v. 16, n. 7, p. 1, doi. 10.1371/journal.pone.0253562

By:

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

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1378

By:

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

Publication type:

Article

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

Published in:

International Journal of Endocrinology, 2017, p. 1, doi. 10.1155/2017/8984365

By:

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

Publication type:

Article

Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry.

Published in:

2021

By:

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.

Publication type:

journal article