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Journal Abstract Search

106 related items for PubMed ID: 9703432

  • 1. Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome.
    Espinós C, Millán JM, Sánchez F, Beneyto M, Nájera C.
    Hum Genet; 1998 Jun; 102(6):691-4. PubMed ID: 9703432
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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 19; 59(5):1074-83. PubMed ID: 8900236
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  • 5. 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 Nov 19; 13(2):133-40. PubMed ID: 10094549
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  • 6. Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
    Nájera C, Beneyto M, Blanca J, Aller E, Fontcuberta A, Millán JM, Ayuso C.
    Hum Mutat; 2002 Jul 19; 20(1):76-7. PubMed ID: 12112664
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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 Nov 24; 533():151-5. PubMed ID: 15180259
    [No Abstract] [Full Text] [Related]

  • 10. Identification of a new mutation of the myosin VII head region in Usher syndrome type 1.
    Liu XZ, Newton VE, Steel KP, Brown SD.
    Hum Mutat; 1997 Nov 24; 10(2):168-70. PubMed ID: 9259201
    [No Abstract] [Full Text] [Related]

  • 11. Erratum: analysis of DNA elements that modulate myosin VIIa expression in humans.
    Orten DJ, Weston MD, Kelley PM, Cremers CW, Wagenaar M, Jacobson SG, Kimberling WJ.
    Hum Mutat; 2000 Jan 24; 15(1):114-5. PubMed ID: 10612833
    [Abstract] [Full Text] [Related]

  • 12. Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells.
    el-Amraoui A, Sahly I, Picaud S, Sahel J, Abitbol M, Petit C.
    Hum Mol Genet; 1996 Aug 24; 5(8):1171-8. PubMed ID: 8842737
    [Abstract] [Full Text] [Related]

  • 13. Novel mutations in MYO7A and USH2A in Usher syndrome.
    Maubaret C, Griffoin JM, Arnaud B, Hamel C.
    Ophthalmic Genet; 2005 Mar 24; 26(1):25-9. PubMed ID: 15823922
    [Abstract] [Full Text] [Related]

  • 14. 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 24; 61(4):813-21. PubMed ID: 9382091
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  • 16. Analysis of DNA elements that modulate myosin VIIA expression in humans.
    Orten DJ, Weston MD, Kelley PM, Cremers CW, Wagenaar M, Jacobson SG, Kimberling WJ.
    Hum Mutat; 1999 Oct 24; 14(4):354. PubMed ID: 10502787
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  • 19. 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 24; 68(8):1063-8. PubMed ID: 15236894
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