HuGE Literature Finder
Records 1-5
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Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.
The Journal of molecular diagnostics : JMD 2014 Nov 16 (6): 673-8. Perreault-Micale Cynthia, Frieden Alexander, Kennedy Caleb J, Neitzel Dana, Sullivan Jessica, Faulkner Nicole, Hallam Stephanie, Greger Valer |
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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 |
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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 |
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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 |
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The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.
Pediatric research 2004 Jun 55 (6): 995-1000. Brownstein Zippora, Ben-Yosef Tamar, Dagan Orit, Frydman Moshe, Abeliovich Dvorah, Sagi Michal, Abraham Fabian A, Taitelbaum-Swead Riki, Shohat Mordechai, Hildesheimer Minka, Friedman Thomas B, Avraham Karen |
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