Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I

Autor: Jaijo T, Oshima A, Aller E, Carney C, Usami S, Millán JM, Kimberling WJ

Publikováno v: MOLECULAR VISION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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PCDH15 codes for protocadherin-15, a cell-cell adhesion protein essential in the morphogenesis and cohesion of stereocilia bundles and in the function or preservation of photoreceptor cells. Mutations in the PCDH15 gene are responsible for Usher synd

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::148dae1f31a079bdb37755dcd504c744
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=2402

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

Autor: Varga, R, Avenarius, MR, Kelley, PM, Keats, BJ, Berlin, CI, Hood, LJ, Morlet, TG, Brashears, SM, Starr, A, Cohn, ES, Smith, RJH, Kimberling, WJ

Publikováno v: Varga, R; Avenarius, MR; Kelley, PM; Keats, BJ; Berlin, CI; Hood, LJ; et al.(2006). OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. Journal of Medical Genetics, 43(7), 576-581. doi: 10.1136/jmg.2005.038612. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/4m09d687

Introduction: The majority of hearing loss in children can be accounted for by genetic causes. Non-syndromic hearing loss accounts for 80% of genetic hearing loss in children, with mutations in DFNB1/GJB2 being by far the most common cause. Among the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::6087e5bee4224547e358f32758219e73
http://www.escholarship.org/uc/item/4m09d687

A progress report on the localization of Usher syndrome type II to chromosome 1q

Autor: Weston, Md, Kimberling, Wj, Möller, Cg, Pieke Dahl, S, Smith, Rj, Martini, Alessandro, Milani, M.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3657::035b4bbc36ca7d01a44c86cf6daf25ac
http://hdl.handle.net/11577/2507224

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