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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 1, 2023. (Total: 223516Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Retinitis Pigmentosa and USH1G[original query]
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
Human genetics 2005 Mar 116 (4): 292-9.
Ouyang Xiao Mei, Yan Denise, Du Li Lin, Hejtmancik J Fielding, Jacobson Samuel G, Nance Walter E, Li An Ren, Angeli Simon, Kaiser Muriel, Newton Valerie, Brown Steve D M, Balkany Thomas, Liu Xue Zho
Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome.
Ophthalmic genetics 2007 Sep 28 (3): 151-5.
Aller Elena, Jaijo Teresa, Beneyto Magdalena, Nájera Carmen, Morera Constantino, Pérez-Garrigues Herminio, Ayuso Carmen, Millán Jo
Novel mutations in the USH1C gene in Usher syndrome patients.
Molecular vision 2010 16 2948-54.
Aparisi María José, García-García Gema, Jaijo Teresa, Rodrigo Regina, Graziano Claudio, Seri Marco, Simsek Tulay, Simsek Enver, Bernal Sara, Baiget Montserrat, Pérez-Garrigues Herminio, Aller Elena, Millán José Mar
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Orphanet journal of rare diseases 2014 9 168.
Aparisi María J, Aller Elena, Fuster-García Carla, García-García Gema, Rodrigo Regina, Vázquez-Manrique Rafael P, Blanco-Kelly Fiona, Ayuso Carmen, Roux Anne-Françoise, Jaijo Teresa, Millán José
Genetic Screening of the Usher Syndrome in Cuba.
Frontiers in genetics 2019 6 10 501.
Santana Elayne E, Fuster-García Carla, Aller Elena, Jaijo Teresa, García-Bohórquez Belén, García-García Gema, Millán José M, Lantigua Arace
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