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128 related items for PubMed ID: 12630964

  • 1. USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.
    Ouyang XM, Hejtmancik JF, Jacobson SG, Xia XJ, Li A, Du LL, Newton V, Kaiser M, Balkany T, Nance WE, Liu XZ.
    Clin Genet; 2003 Feb; 63(2):150-3. PubMed ID: 12630964
    [Abstract] [Full Text] [Related]

  • 2. Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.
    Ebermann I, Lopez I, Bitner-Glindzicz M, Brown C, Koenekoop RK, Bolz HJ.
    Genome Biol; 2007 Feb; 8(4):R47. PubMed ID: 17407589
    [Abstract] [Full Text] [Related]

  • 3. The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population.
    Savas S, Frischhertz B, Pelias MZ, Batzer MA, Deininger PL, Keats BB.
    Hum Genet; 2002 Jan; 110(1):95-7. PubMed ID: 11810303
    [Abstract] [Full Text] [Related]

  • 4. Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.
    Zwaenepoel I, Verpy E, Blanchard S, Meins M, Apfelstedt-Sylla E, Gal A, Petit C.
    Hum Mutat; 2001 Jan; 17(1):34-41. PubMed ID: 11139240
    [Abstract] [Full Text] [Related]

  • 5. Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.
    Khateb S, Zelinger L, Ben-Yosef T, Merin S, Crystal-Shalit O, Gross M, Banin E, Sharon D.
    PLoS One; 2012 Jan; 7(12):e51566. PubMed ID: 23251578
    [Abstract] [Full Text] [Related]

  • 6. Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.
    Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu XZ.
    Hum Genet; 2002 Jul; 111(1):26-30. PubMed ID: 12136232
    [Abstract] [Full Text] [Related]

  • 7. An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.
    Ebermann I, Koenekoop RK, Lopez I, Bou-Khzam L, Pigeon R, Bolz HJ.
    Eur J Hum Genet; 2009 Jan; 17(1):80-4. PubMed ID: 18665195
    [Abstract] [Full Text] [Related]

  • 8. Novel mutations in the USH1C gene in Usher syndrome patients.
    Aparisi MJ, García-García G, Jaijo T, Rodrigo R, Graziano C, Seri M, Simsek T, Simsek E, Bernal S, Baiget M, Pérez-Garrigues H, Aller E, Millán JM.
    Mol Vis; 2010 Dec 31; 16():2948-54. PubMed ID: 21203349
    [Abstract] [Full Text] [Related]

  • 9. Two families from New England with usher syndrome type IC with distinct haplotypes.
    DeAngelis MM, McGee TL, Keats BJ, Slim R, Berson EL, Dryja TP.
    Am J Ophthalmol; 2001 Mar 31; 131(3):355-8. PubMed ID: 11239869
    [Abstract] [Full Text] [Related]

  • 10. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
    Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ.
    Hum Genet; 2005 Mar 31; 116(4):292-9. PubMed ID: 15660226
    [Abstract] [Full Text] [Related]

  • 11. Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11.
    Keats BJ, Nouri N, Pelias MZ, Deininger PL, Litt M.
    Am J Hum Genet; 1994 Apr 31; 54(4):681-6. PubMed ID: 8128966
    [Abstract] [Full Text] [Related]

  • 12. Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.
    von Brederlow B, Bolz H, Janecke A, La O Cabrera A, Rudolph G, Lorenz B, Schwinger E, Gal A.
    Hum Mutat; 2002 Mar 31; 19(3):268-73. PubMed ID: 11857743
    [Abstract] [Full Text] [Related]

  • 13. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.
    Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C.
    Nat Genet; 2000 Sep 31; 26(1):51-5. PubMed ID: 10973247
    [Abstract] [Full Text] [Related]

  • 14. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.
    Reiners J, Nagel-Wolfrum K, Jürgens K, Märker T, Wolfrum U.
    Exp Eye Res; 2006 Jul 31; 83(1):97-119. PubMed ID: 16545802
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  • 18. Assembly of a high-resolution map of the Acadian Usher syndrome region and localization of the nuclear EF-hand acidic gene.
    DeAngelis MM, Doucet JP, Drury S, Sherry ST, Robichaux MB, Den Z, Pelias MZ, Ditta GM, Keats BJ, Deininger PL, Batzer MA.
    Biochim Biophys Acta; 1998 Jul 01; 1407(1):84-91. PubMed ID: 9639681
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  • 19. The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.
    Blaydon DC, Mueller RF, Hutchin TP, Leroy BP, Bhattacharya SS, Bird AC, Malcolm S, Bitner-Glindzicz M.
    Clin Genet; 2003 Apr 01; 63(4):303-7. PubMed ID: 12702164
    [Abstract] [Full Text] [Related]

  • 20. Cochlear implantation in individuals with Usher type 1 syndrome.
    Liu XZ, Angeli SI, Rajput K, Yan D, Hodges AV, Eshraghi A, Telischi FF, Balkany TJ.
    Int J Pediatr Otorhinolaryngol; 2008 Jun 01; 72(6):841-7. PubMed ID: 18395802
    [Abstract] [Full Text] [Related]

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