Výsledky vyhledávání - "pathology [Hearing Loss]"

Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome)

Autor: Hauser, Stefan, Schuster, Stefanie, Theurer, Yvonne, Synofzik, Matthis, Schöls, Ludger

Publikováno v: Stem cell research 17(2), 426-429 (2016). doi:10.1016/j.scr.2016.09.012
Stem Cell Research, Vol 17, Iss 2, Pp 426-429 (2016)

Human skin fibroblasts were isolated from a 48-year-old patient carrying compound heterozygous mutations (c.610+364G>A and c.1311A>G) in OPA1, responsible for early onset optic atrophy complicated by ataxia and pyramidal signs (Behr syndrome; OMIM #2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::268ee42e0c12b0f276df3a49d6a68e95
https://pub.dzne.de/record/138916

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Autor: Pio D'Adamo, Domenico Leonardo Grasso, Diego Dolcetta, Annamaria Franzè, Cristina Zadro, Marina Ciullo, Teresa Nutile, Gilberto Andrighetto, Paolo Gasparini, Elio Marciano, Elisa Bedin, Uros Hladnik, Maria Graziella Persico, Pasquale Riccardi

Publikováno v: International journal of audiology (Online) 48 (2009): 531–538. doi:10.1080/14992020902822039
info:cnr-pdr/source/autori:Bedin E.; Franzè A.; Zadro C.; Persico M.G.; Ciullo M.; Hladnik U.; Dolcetta D.; Grasso D.L.; Riccardi P.; Nutile T.; Andrighetto G.; D'Adamo P.; Gasparini P.; Marciano E./titolo:Age-related hearing loss in four Italian genetic isolates: an epidemiological study/doi:10.1080%2F14992020902822039/rivista:International journal of audiology (Online)/anno:2009/pagina_da:531/pagina_a:538/intervallo_pagine:531–538/volume:48

The objective of this study was to estimate the prevalence Of hearing impairment ill four genetically isolated Italian villages (Carlantino, Campora, Gioi-Cardile, and Stoccareddo), 1682 subjects were recruited from all the individuals participating

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c262ac817fc5a3d0b1e2e21ae34f2a7
http://hdl.handle.net/11588/371175

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