Výsledky vyhledávání - "Anastasios Xefteris"

Expanded Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(14;15): Report and Review of the Literature

Autor: Kosmas Sarafidis, Nikolaos Peroulis, Antonios Psarakis, Thomas Kataras, Eleni Tsoulou-Panidou, Anastasios Xefteris, Georgios Daskalakis, Eleni Sekerli, Aggeliki Malamidou, Eirini Oikonomidou, Eleni Agakidou, Sofia Charisiou, Georgios Efstathiou, Antonia Arampatzi

Publikováno v: Cytogenetic and Genome Research. 159:109-118

In the present study, we report a case of a female infant with a de novo unbalanced t(14;15) translocation resulting in a 14-Mb deletion of the 15q11.1q14 region. The deletion includes the 15q11.2q13 Prader-Willi syndrome (PWS) critical region, while

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d8fa8307ce0d7942e0151b29684b89c
https://doi.org/10.1159/000504159

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Prenatal diagnosis of fetal thanatophoric dysplasia type 1 with de novo c.2419T > G (p. Ter807Gly) (X807G) gene mutation in fibroblast growth factor receptor 3 (FGFR3) showing increased nuchal translucency at the first trimester of gestation: A case report with review of the literature

Autor: M Varras, Anastasios Xefteris, Anastasia Konstantinidou, Fani-Niki Varra, Viktoria-Konstantina Varra, Stella Akrivi, Antonia Arampatzi, Antonios Kondylios, Eleni Sekerli, Apostolos Fasoulopoulos

Publikováno v: Journal of Molecular and Clinical Medicine. 3:19

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f3b0d27c39b559bb0c5b4aef50b2da09
https://doi.org/10.31083/j.jmcm.2020.01.001

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