Výsledky vyhledávání - "Barend F T, Hogewind"

Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1

Autor: Barend F T, Hogewind, Ronald J E, Pennings, Frans A, Hol, Henricus P M, Kunst, Elisabeth H, Hoefsloot, Johannes R M, Cruysberg, Cor W R J, Cremers

Publikováno v: Molecular Vision

Purpose To describe the phenotype of a novel Wolframin (WFS1) mutation in a family with autosomal dominant optic neuropathy and deafness. The study is designed as a retrospective observational case series. Methods Seven members of a Dutch family unde

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d0c38e8ab573ad97bbca918331deeb4d
https://pubmed.ncbi.nlm.nih.gov/20069065

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Identification and functional characterization of a novel MYOC mutation in two primary open angle glaucoma families from The Netherlands

Autor: Barend F T, Hogewind, Katarina, Gaplovska-Kysela, Thomas, Theelen, Frans P M, Cremers, Gary H F, Yam, Carel B, Hoyng, Arijit, Mukhopadhyay

Publikováno v: Molecular vision. 13

Glaucoma is the second most prevalent cause of blindness worldwide, projected to affect more than 60 million people by 2010, 75% of which represents primary open angle glaucoma (POAG). Of the three genes, namely, Myocilin (MYOC), Optineurin (OPTN), a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fb2c81b3009c3bcb5f85ba8feb51a9bc
https://pubmed.ncbi.nlm.nih.gov/17960117

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