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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

114 related items for PubMed ID: 11332404

  • 21. A systematic review of hearing and vestibular function in carriers of the Pro51Ser mutation in the COCH gene.
    JanssensdeVarebeke S, Topsakal V, Van Camp G, Van Rompaey V.
    Eur Arch Otorhinolaryngol; 2019 May; 276(5):1251-1262. PubMed ID: 30806805
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  • 22. Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9.
    Robertson NG, Hamaker SA, Patriub V, Aster JC, Morton CC.
    J Med Genet; 2003 Jul; 40(7):479-86. PubMed ID: 12843317
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  • 23. A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction.
    Street VA, Kallman JC, Robertson NG, Kuo SF, Morton CC, Phillips JO.
    Am J Med Genet A; 2005 Dec 01; 139A(2):86-95. PubMed ID: 16261627
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  • 24. A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction.
    Robertson NG, Jones SM, Sivakumaran TA, Giersch AB, Jurado SA, Call LM, Miller CE, Maison SF, Liberman MC, Morton CC.
    Hum Mol Genet; 2008 Nov 01; 17(21):3426-34. PubMed ID: 18697796
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  • 25. A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.
    Hildebrand MS, Gandolfo L, Shearer AE, Webster JA, Jensen M, Kimberling WJ, Stephan D, Huygen PL, Smith RJ, Bahlo M.
    Laryngoscope; 2010 Dec 01; 120(12):2489-93. PubMed ID: 21046548
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  • 28. Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.
    Robijn SMM, Smits JJ, Sezer K, Huygen PLM, Beynon AJ, van Wijk E, Kremer H, de Vrieze E, Lanting CP, Pennings RJE.
    Biomolecules; 2022 Jan 27; 12(2):. PubMed ID: 35204720
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  • 31. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction.
    Robertson NG, Lu L, Heller S, Merchant SN, Eavey RD, McKenna M, Nadol JB, Miyamoto RT, Linthicum FH, Lubianca Neto JF, Hudspeth AJ, Seidman CE, Morton CC, Seidman JG.
    Nat Genet; 1998 Nov 27; 20(3):299-303. PubMed ID: 9806553
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  • 32. Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p.
    Van Camp G, Coucke PJ, Kunst H, Schatteman I, Van Velzen D, Marres H, van Ewijk M, Declau F, Van Hauwe P, Meyers J, Kenyon J, Smith SD, Smith RJ, Djelantik B, Cremers CW, Van de Heyning PH, Willems PJ.
    Genomics; 1997 Apr 01; 41(1):70-4. PubMed ID: 9126484
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  • 33. Focal sclerosis of semicircular canals with severe DFNA9 hearing impairment caused by a P51S COCH-mutation: is there a link?
    de Varebeke SP, Termote B, Van Camp G, Govaerts PJ, Schepers S, Cox T, Deben K, Ketelslagers K, Souverijns G.
    Otol Neurotol; 2014 Jul 01; 35(6):1077-86. PubMed ID: 24662630
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  • 34. Homozygote loss-of-function variants in the human COCH gene underlie hearing loss.
    Danial-Farran N, Chervinsky E, Nadar-Ponniah PT, Cohen Barak E, Taiber S, Khayat M, Avraham KB, Shalev SA.
    Eur J Hum Genet; 2021 Feb 01; 29(2):338-342. PubMed ID: 32939038
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  • 36. DFNA9 is a progressive audiovestibular dysfunction with a microfibrillar deposit in the inner ear.
    Khetarpal U.
    Laryngoscope; 2000 Aug 01; 110(8):1379-84. PubMed ID: 10942145
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  • 39. Radiologic Features in Cochlear Implant Candidates: A Prospective Study Comparing Candidates Carrying the p.Pro51Ser Mutation in Coagulation Factor C Homology With Noncarriers.
    Beerten A, Bosmans H, Lauwers M, Vermeulen H, Janssens de Varebeke SP.
    Otol Neurotol; 2022 Oct 01; 43(9):e969-e975. PubMed ID: 36001698
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  • 40. Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.
    van Drunen FJ, Pauw RJ, Collin RW, Kremer H, Huygen PL, Cremers CW.
    Audiol Neurootol; 2009 Oct 01; 14(5):303-7. PubMed ID: 19372648
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