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Journal Abstract Search

128 related items for PubMed ID: 12408077

  • 1. Clinical presentation of DFNB12 and Usher syndrome type 1D.
    Bork JM, Morell RJ, Khan S, Riazuddin S, Wilcox ER, Friedman TB, Griffith AJ.
    Adv Otorhinolaryngol; 2002; 61():145-52. PubMed ID: 12408077
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  • 2. Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).
    Pennings RJ, Topsakal V, Astuto L, de Brouwer AP, Wagenaar M, Huygen PL, Kimberling WJ, Deutman AF, Kremer H, Cremers CW.
    Otol Neurotol; 2004 Sep; 25(5):699-706. PubMed ID: 15353998
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  • 6. Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium.
    Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Möller CG, Pelias MZ, Tranebjaerg L.
    Am J Med Genet; 1994 Mar 01; 50(1):32-8. PubMed ID: 8160750
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  • 7. Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.
    Ness SL, Ben-Yosef T, Bar-Lev A, Madeo AC, Brewer CC, Avraham KB, Kornreich R, Desnick RJ, Willner JP, Friedman TB, Griffith AJ.
    J Med Genet; 2003 Oct 01; 40(10):767-72. PubMed ID: 14569126
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  • 9. Genetic heterogeneity in Usher syndrome.
    Keats BJ, Savas S.
    Am J Med Genet A; 2004 Sep 15; 130A(1):13-6. PubMed ID: 15368488
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  • 11. 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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  • 12. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
    Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ.
    Am J Hum Genet; 2001 Jan 24; 68(1):26-37. PubMed ID: 11090341
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  • 13. Hearing impairment in Usher's syndrome.
    Pennings RJ, Wagenaar M, van Aarem A, Huygen PL, Kimberling WJ, Cremers CW.
    Adv Otorhinolaryngol; 2002 Jan 24; 61():184-91. PubMed ID: 12408083
    [No Abstract] [Full Text] [Related]

  • 14. 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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  • 18. A syndrome with retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract.
    Rosenberg T, Parving A.
    Acta Ophthalmol Scand Suppl; 1996 Aug 24; (219):50-3. PubMed ID: 8741120
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  • 20. Genetic heterogeneity of Usher syndrome type II.
    Pieke Dahl S, Kimberling WJ, Gorin MB, Weston MD, Furman JM, Pikus A, Möller C.
    J Med Genet; 1993 Oct 24; 30(10):843-8. PubMed ID: 7901420
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