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Journal Abstract Search

209 related items for PubMed ID: 8900236

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  • 2. 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; 13(2):133-40. PubMed ID: 10094549
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  • 4. 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; 20(1):76-7. PubMed ID: 12112664
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  • 5. 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
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  • 7. 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; 14(4):354. PubMed ID: 10502787
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  • 8. 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; 5(8):1171-8. PubMed ID: 8842737
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  • 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; 15(1):114-5. PubMed ID: 10612833
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  • 12. 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; 27(3):290-1. PubMed ID: 16470552
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  • 16. 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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  • 17. 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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  • 18. 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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