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365 related items for PubMed ID: 9171833

  • 1. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.
    Weil D, Küssel P, Blanchard S, Lévy G, Levi-Acobas F, Drira M, Ayadi H, Petit C.
    Nat Genet; 1997 Jun; 16(2):191-3. PubMed ID: 9171833
    [Abstract] [Full Text] [Related]

  • 2. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness.
    Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD.
    Nat Genet; 1997 Jun; 16(2):188-90. PubMed ID: 9171832
    [Abstract] [Full Text] [Related]

  • 3. Defective myosin VIIA gene responsible for Usher syndrome type 1B.
    Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD.
    Nature; 1995 Mar 02; 374(6517):60-1. PubMed ID: 7870171
    [Abstract] [Full Text] [Related]

  • 4. Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
    Riazuddin S, Nazli S, Ahmed ZM, Yang Y, Zulfiqar F, Shaikh RS, Zafar AU, Khan SN, Sabar F, Javid FT, Wilcox ER, Tsilou E, Boger ET, Sellers JR, Belyantseva IA, Riazuddin S, Friedman TB.
    Hum Mutat; 2008 Apr 02; 29(4):502-11. PubMed ID: 18181211
    [Abstract] [Full Text] [Related]

  • 5. Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.
    Ben Rebeh I, Morinière M, Ayadi L, Benzina Z, Charfedine I, Feki J, Ayadi H, Ghorbel A, Baklouti F, Masmoudi S.
    Mol Vis; 2010 Sep 30; 16():1898-906. PubMed ID: 21031134
    [Abstract] [Full Text] [Related]

  • 6. Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.
    Janecke AR, Meins M, Sadeghi M, Grundmann K, Apfelstedt-Sylla E, Zrenner E, Rosenberg T, Gal A.
    Hum Mutat; 1999 Sep 30; 13(2):133-40. PubMed ID: 10094549
    [Abstract] [Full Text] [Related]

  • 7. Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B.
    Libby RT, Steel KP.
    Invest Ophthalmol Vis Sci; 2001 Mar 30; 42(3):770-8. PubMed ID: 11222540
    [Abstract] [Full Text] [Related]

  • 8. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.
    Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PS, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER.
    Hum Genet; 2002 Jun 30; 110(6):527-31. PubMed ID: 12107438
    [Abstract] [Full Text] [Related]

  • 9. Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.
    Bharadwaj AK, Kasztejna JP, Huq S, Berson EL, Dryja TP.
    Exp Eye Res; 2000 Aug 30; 71(2):173-81. PubMed ID: 10930322
    [Abstract] [Full Text] [Related]

  • 10. Genetic analysis of a four generation Indian family with Usher syndrome: a novel insertion mutation in MYO7A.
    Kumar A, Babu M, Kimberling WJ, Venkatesh CP.
    Mol Vis; 2004 Nov 24; 10():910-6. PubMed ID: 15592175
    [Abstract] [Full Text] [Related]

  • 11. Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.
    Jaijo T, Aller E, Oltra S, Beneyto M, Nájera C, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Perez-Garrigues H, Navea A, Millán JM.
    Hum Mutat; 2006 Mar 24; 27(3):290-1. PubMed ID: 16470552
    [Abstract] [Full Text] [Related]

  • 12. Searching for evidence of DFNB2.
    Astuto LM, Kelley PM, Askew JW, Weston MD, Smith RJ, Alswaid AF, Al-Rakaf M, Kimberling WJ.
    Am J Med Genet; 2002 May 15; 109(4):291-7. PubMed ID: 11992483
    [Abstract] [Full Text] [Related]

  • 13. Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B.
    Chen ZY, Hasson T, Kelley PM, Schwender BJ, Schwartz MF, Ramakrishnan M, Kimberling WJ, Mooseker MS, Corey DP.
    Genomics; 1996 Sep 15; 36(3):440-8. PubMed ID: 8884267
    [Abstract] [Full Text] [Related]

  • 14. Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.
    Cuevas JM, Espinós C, Millán JM, Sánchez F, Trujillo MJ, García-Sandoval B, Ayuso C, Nájera C, Beneyto M.
    Mol Cell Probes; 1998 Dec 15; 12(6):417-20. PubMed ID: 9843659
    [Abstract] [Full Text] [Related]

  • 15. Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.
    Adato A, Weil D, Kalinski H, Pel-Or Y, Ayadi H, Petit C, Korostishevsky M, Bonne-Tamir B.
    Am J Hum Genet; 1997 Oct 15; 61(4):813-21. PubMed ID: 9382091
    [Abstract] [Full Text] [Related]

  • 16. Effects of shaker-1 mutations on myosin-VIIa protein and mRNA expression.
    Hasson T, Walsh J, Cable J, Mooseker MS, Brown SD, Steel KP.
    Cell Motil Cytoskeleton; 1997 Oct 15; 37(2):127-38. PubMed ID: 9186010
    [Abstract] [Full Text] [Related]

  • 17. Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers.
    Mouglabey YB, Nimri S, Sayegh F, El Zir E, Slim R.
    Clin Genet; 1998 Aug 15; 54(2):155-8. PubMed ID: 9761396
    [Abstract] [Full Text] [Related]

  • 18. The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A).
    Kelley PM, Weston MD, Chen ZY, Orten DJ, Hasson T, Overbeck LD, Pinnt J, Talmadge CB, Ing P, Mooseker MS, Corey D, Sumegi J, Kimberling WJ.
    Genomics; 1997 Feb 15; 40(1):73-9. PubMed ID: 9070921
    [Abstract] [Full Text] [Related]

  • 19. Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.
    Weil D, Levy G, Sahly I, Levi-Acobas F, Blanchard S, El-Amraoui A, Crozet F, Philippe H, Abitbol M, Petit C.
    Proc Natl Acad Sci U S A; 1996 Apr 16; 93(8):3232-7. PubMed ID: 8622919
    [Abstract] [Full Text] [Related]

  • 20. Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
    Luijendijk MW, Van Wijk E, Bischoff AM, Krieger E, Huygen PL, Pennings RJ, Brunner HG, Cremers CW, Cremers FP, Kremer H.
    Hum Genet; 2004 Jul 16; 115(2):149-56. PubMed ID: 15221449
    [Abstract] [Full Text] [Related]

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