Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Faidon-Nikolaos Tilemis"'
Autor:
Faidon-Nikolaos Tilemis, Nikolaos M. Marinakis, Konstantina Kosma, Florentia Fostira, Joanne Traeger-Synodinos
Publikováno v:
Molecular Syndromology. :1-6
Introduction: Non-syndromic polydactyly has been associated with pathogenic variants in 11 genes until today, including IQCE gene. More precisely, loss-of-function of IQCE is associated with the autosomal recessive disorder postaxial polydactyly type
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1071536b21ac8c3c4b60b02c668afc6e
https://doi.org/10.1159/000527777
https://doi.org/10.1159/000527777
Autor:
Danai Veltra, Konstantina Kosma, Antigoni Papavasiliou, Faidon‐Nikolaos Tilemis, Joanne Traeger‐Synodinos, Christalena Sofocleous
Publikováno v:
American Journal of Medical Genetics Part A. 188:3563-3566
ATP6V1B2 pathogenic variants are linked with variable phenotypes, such as dominant deafness-onychodystrophy syndrome (DDOD), autosomal dominant Zimmermann-Laband syndrome type 2 (ZLS2), and some cases of DOORS (deafness, onychodystrophy, osteodystrop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db8d2cd5039e34458898e9291e630d25
https://doi.org/10.1002/ajmg.a.62971
https://doi.org/10.1002/ajmg.a.62971
Autor:
Danai Veltra, Faidon-Nikolaos Tilemis, Nikolaos M. Marinakis, Maria Svingou, Anastasios Mitrakos, Konstantina Kosma, Irene Tsoutsou, Periklis Makrythanasis, Virginia Theodorou, Marina Katsalouli, Pelagia Vorgia, Georgios Niotakis, Georgios Vartzelis, Argirios Dinopoulos, Athanasios Evangeliou, Stella Mouskou, Anastasia Korona, Sotiria Mastroyianni, Antigone Papavasiliou, Maria Tzetis, Roser Pons, Joanne Traeger-Synodinos, Christalena Sofocleous
Genetics of epilepsy are highly heterogeneous and complex. Lesions detected involve genes encoding various types of channels, transcription factors, and other proteins implicated in numerous cellular processes, such as synaptogenesis. Consequently, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95c7e76871eca36a992422ab57cba7f9
Autor:
Christalena Sofocleous, Joanne Traeger-Synodinos, Maria Svingou, Konstantina Kosma, Eirini Tsoutsou, Faidon-Nikolaos Tilemis, Danai Veltra, Helen Fryssira, Nikolaos Marinakis, Kyriaki Kekou
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(8)
About 6000 to 7000 different rare disorders with suspected genetic etiologies have been described and almost 4500 causative gene(s) have been identified. The advent of next-generation sequencing (NGS) technologies has revolutionized genomic research
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c59c07500fc699b507557ab0d1ab874d
https://pubmed.ncbi.nlm.nih.gov/34008892
https://pubmed.ncbi.nlm.nih.gov/34008892