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Journal Abstract Search

140 related items for PubMed ID: 8599365

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  • 5. Usher syndrome: clinical findings and gene localization studies.
    Kimberling WJ, Möller CG, Davenport SL, Lund G, Grissom TJ, Priluck I, White V, Weston MD, Biscone-Halterman K, Brookhouser PE.
    Laryngoscope; 1989 Jan; 99(1):66-72. PubMed ID: 2562904
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  • 9. Spectrum of mutations in USH2A in British patients with Usher syndrome type II.
    Leroy BP, Aragon-Martin JA, Weston MD, Bessant DA, Willis C, Webster AR, Bird AC, Kimberling WJ, Payne AM, Bhattacharya SS.
    Exp Eye Res; 2001 May; 72(5):503-9. PubMed ID: 11311042
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  • 10. Familial auditory neuropathy.
    Wang Q, Gu R, Han D, Yang W.
    Laryngoscope; 2003 Sep; 113(9):1623-9. PubMed ID: 12972945
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  • 13. Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.
    Schneider E, Märker T, Daser A, Frey-Mahn G, Beyer V, Farcas R, Schneider-Rätzke B, Kohlschmidt N, Grossmann B, Bauss K, Napiontek U, Keilmann A, Bartsch O, Zechner U, Wolfrum U, Haaf T.
    Hum Mol Genet; 2009 Feb 15; 18(4):655-66. PubMed ID: 19028668
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  • 14. Usher syndrome in the Samaritans: strengths and limitations of using inbred isolated populations to identify genes causing recessive disorders.
    Bonné-Tamir B, Nystuen A, Seroussi E, Kalinsky H, Kwitek-Black AE, Korostishevsky M, Adato A, Sheffield VC.
    Am J Phys Anthropol; 1997 Oct 15; 104(2):193-200. PubMed ID: 9386826
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  • 15. Identification of candidate regions for a novel Usher syndrome type II locus.
    Ben Rebeh I, Benzina Z, Dhouib H, Hadjamor I, Amyere M, Ayadi L, Turki K, Hammami B, Kmiha N, Kammoun H, Hakim B, Charfedine I, Vikkula M, Ghorbel A, Ayadi H, Masmoudi S.
    Mol Vis; 2008 Sep 19; 14():1719-26. PubMed ID: 18806881
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  • 18. Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).
    Beneyto MM, Cuevas JM, Millán JM, Espinós C, Mateu E, González-Cabo P, Baiget M, Doménech M, Bernal S, Ayuso C, García-Sandoval B, Trujillo MJ, Borrego S, Antiñolo G, Carballo M, Nájera C.
    Ophthalmic Genet; 2000 Jun 19; 21(2):123-8. PubMed ID: 10916187
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  • 20. Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.
    Aller E, Jaijo T, Oltra S, Alió J, Galán F, Nájera C, Beneyto M, Millán JM.
    Clin Genet; 2004 Dec 19; 66(6):525-9. PubMed ID: 15521980
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