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Journal Abstract Search

135 related items for PubMed ID: 9761396

  • 1. 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; 54(2):155-8. PubMed ID: 9761396
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  • 2. 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; 29(4):502-11. PubMed ID: 18181211
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  • 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 Apr; 13(2):133-40. PubMed ID: 10094549
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  • 8. 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
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  • 9. 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
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  • 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
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  • 11. Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
    Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson SG, Gorin MB, Kimberling WJ.
    Am J Hum Genet; 1996 Nov 24; 59(5):1074-83. PubMed ID: 8900236
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  • 12. 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 24; 42(3):770-8. PubMed ID: 11222540
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  • 13. Identification of three novel mutations in the MYO7A gene.
    Cuevas JM, Espinós C, Millán JM, Sánchez F, Trujillo MJ, Ayuso C, Beneyto M, Nájera C.
    Hum Mutat; 1999 Aug 19; 14(2):181. PubMed ID: 10447383
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  • 14. 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 19; 71(2):173-81. PubMed ID: 10930322
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  • 15. 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 19; 12(6):417-20. PubMed ID: 9843659
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  • 16. 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 19; 27(3):290-1. PubMed ID: 16470552
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  • 17. Clinical and genetic linkage analysis of a large Venezuelan kindred with Usher syndrome.
    Keogh IJ, Godinho RN, Wu TP, Diaz de Palacios AM, Palacios N, Bello de Alford M, De Almada MI, MarPalacios N, Vazquez A, Mattei R, Seidman C, Seidman J, Eavey RD.
    Int J Pediatr Otorhinolaryngol; 2004 Aug 19; 68(8):1063-8. PubMed ID: 15236894
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  • 18. Screen for usher syndrome 1B mutations in the ovine myosin VIIa gene.
    Slatter T, Azarian SM, Tebbutt S, Maw M, Williams DS.
    Adv Exp Med Biol; 2003 Aug 19; 533():151-5. PubMed ID: 15180259
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  • 19. Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.
    Lévy G, Levi-Acobas F, Blanchard S, Gerber S, Larget-Piet D, Chenal V, Liu XZ, Newton V, Steel KP, Brown SD, Munnich A, Kaplan J, Petit C, Weil D.
    Hum Mol Genet; 1997 Jan 19; 6(1):111-6. PubMed ID: 9002678
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  • 20. 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 19; 110(6):527-31. PubMed ID: 12107438
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