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Journal Abstract Search

164 related items for PubMed ID: 14569126

  • 1. 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; 40(10):767-72. PubMed ID: 14569126
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  • 2. 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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  • 3. 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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  • 6. 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 24; 66(6):525-9. PubMed ID: 15521980
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  • 7. [From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)].
    Pennings RJ, Kremer H, Deutman AF, Kimberling WJ, Cremers CW.
    Ned Tijdschr Geneeskd; 2002 Dec 07; 146(49):2354-8. PubMed ID: 12510399
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  • 8. A syndrome with retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract.
    Rosenberg T, Parving A.
    Acta Ophthalmol Scand Suppl; 1996 Dec 07; (219):50-3. PubMed ID: 8741120
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  • 9. 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 Dec 07; 61():145-52. PubMed ID: 12408077
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  • 11. Evidence for a fourth locus in Usher syndrome type I.
    Gerber S, Larget-Piet D, Rozet JM, Bonneau D, Mathieu M, Der Kaloustian V, Munnich A, Kaplan J.
    J Med Genet; 1996 Jan 07; 33(1):77-9. PubMed ID: 8825055
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  • 13. [Molecular updates on Usher syndrome].
    Roux AF.
    J Fr Ophtalmol; 2005 Jan 07; 28(1):93-7. PubMed ID: 15767904
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  • 15. Usher syndrome: results of a screening program in Colombia.
    Tamayo ML, Bernal JE, Tamayo GE, Frias JL, Alvira G, Vergara O, Rodriguez V, Uribe JI, Silva JC.
    Clin Genet; 1991 Oct 07; 40(4):304-11. PubMed ID: 1756603
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  • 18. 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 07; 30(10):843-8. PubMed ID: 7901420
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