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192 related items for PubMed ID: 26758463

  • 1. Distinct vestibular phenotypes in DFNA9 families with COCH variants.
    Kim BJ, Kim AR, Han KH, Rah YC, Hyun J, Ra BS, Koo JW, Choi BY.
    Eur Arch Otorhinolaryngol; 2016 Oct; 273(10):2993-3002. PubMed ID: 26758463
    [Abstract] [Full Text] [Related]

  • 2. Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease.
    Usami S, Takahashi K, Yuge I, Ohtsuka A, Namba A, Abe S, Fransen E, Patthy L, Otting G, Van Camp G.
    Eur J Hum Genet; 2003 Oct; 11(10):744-8. PubMed ID: 14512963
    [Abstract] [Full Text] [Related]

  • 3. Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion.
    Jung J, Kim HS, Lee MG, Yang EJ, Choi JY.
    Hum Mutat; 2015 Dec; 36(12):1168-75. PubMed ID: 26256111
    [Abstract] [Full Text] [Related]

  • 4. Detailed hearing and vestibular profiles in the patients with COCH mutations.
    Tsukada K, Ichinose A, Miyagawa M, Mori K, Hattori M, Nishio SY, Naito Y, Kitajiri S, Usami S.
    Ann Otol Rhinol Laryngol; 2015 May; 124 Suppl 1():100S-10S. PubMed ID: 25780252
    [Abstract] [Full Text] [Related]

  • 5. Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.
    Wang Q, Fei P, Gu H, Zhang Y, Ke X, Liu Y.
    PLoS One; 2017 May; 12(1):e0170011. PubMed ID: 28099493
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.
    Robertson NG, Cremers CW, Huygen PL, Ikezono T, Krastins B, Kremer H, Kuo SF, Liberman MC, Merchant SN, Miller CE, Nadol JB, Sarracino DA, Verhagen WI, Morton CC.
    Hum Mol Genet; 2006 Apr 01; 15(7):1071-85. PubMed ID: 16481359
    [Abstract] [Full Text] [Related]

  • 8. Hearing and vestibular deficits in the Coch(-/-) null mouse model: comparison to the Coch(G88E/G88E) mouse and to DFNA9 hearing and balance disorder.
    Jones SM, Robertson NG, Given S, Giersch AB, Liberman MC, Morton CC.
    Hear Res; 2011 Feb 01; 272(1-2):42-8. PubMed ID: 21073934
    [Abstract] [Full Text] [Related]

  • 9. Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family.
    Lemaire FX, Feenstra L, Huygen PL, Fransen E, Devriendt K, Van Camp G, Vantrappen G, Cremers CW, Wackym PA, Koss JC.
    Otol Neurotol; 2003 Sep 01; 24(5):743-8. PubMed ID: 14501450
    [Abstract] [Full Text] [Related]

  • 10. Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH.
    Bischoff AM, Pauw RJ, Huygen PL, Aandekerk AL, Kremer H, Cremers CW, Cruysberg JR.
    Am J Ophthalmol; 2007 May 01; 143(5):847-852. PubMed ID: 17368553
    [Abstract] [Full Text] [Related]

  • 11. Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.
    Chen DY, Chai YC, Yang T, Wu H.
    Int J Pediatr Otorhinolaryngol; 2013 Oct 01; 77(10):1711-5. PubMed ID: 23993205
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. Phenotype description of a novel DFNA9/COCH mutation, I109T.
    Pauw RJ, Huygen PL, Collin RW, Cruysberg JR, Hoefsloot LH, Kremer H, Cremers CW.
    Ann Otol Rhinol Laryngol; 2007 May 01; 116(5):349-57. PubMed ID: 17561763
    [Abstract] [Full Text] [Related]

  • 14. [From gene to disease; a progressive cochlear-vestibular dysfunction with onset in middle-age (DFNA9)].
    Cremers CW, Kemperman MH, Bom SJ, Huygen PL, Verhagen WI, Kremer JM.
    Ned Tijdschr Geneeskd; 2005 Nov 19; 149(47):2619-21. PubMed ID: 16355574
    [Abstract] [Full Text] [Related]

  • 15. High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene.
    Fransen E, Verstreken M, Verhagen WI, Wuyts FL, Huygen PL, D'Haese P, Robertson NG, Morton CC, McGuirt WT, Smith RJ, Declau F, Van de Heyning PH, Van Camp G.
    Hum Mol Genet; 1999 Aug 19; 8(8):1425-9. PubMed ID: 10400989
    [Abstract] [Full Text] [Related]

  • 16. Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9): a follow-up study of a family.
    Verhagen WI, Bom SJ, Fransen E, Van Camp G, Huygen PL, Theunissen EJ, Cremers CW.
    Clin Otolaryngol Allied Sci; 2001 Dec 19; 26(6):477-83. PubMed ID: 11843927
    [Abstract] [Full Text] [Related]

  • 17. A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
    de Kok YJ, Bom SJ, Brunt TM, Kemperman MH, van Beusekom E, van der Velde-Visser SD, Robertson NG, Morton CC, Huygen PL, Verhagen WI, Brunner HG, Cremers CW, Cremers FP.
    Hum Mol Genet; 1999 Feb 19; 8(2):361-6. PubMed ID: 9931344
    [Abstract] [Full Text] [Related]

  • 18. Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation.
    Kemperman MH, De Leenheer EM, Huygen PL, van Duijnhoven G, Morton CC, Robertson NG, Cremers FP, Kremer H, Cremers CW.
    Otol Neurotol; 2005 Sep 19; 26(5):926-33. PubMed ID: 16151339
    [Abstract] [Full Text] [Related]

  • 19. Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.
    Bae SH, Robertson NG, Cho HJ, Morton CC, Jung DJ, Baek JI, Choi SY, Lee J, Lee KY, Kim UK.
    Hum Mutat; 2014 Dec 19; 35(12):1506-1513. PubMed ID: 25230692
    [Abstract] [Full Text] [Related]

  • 20. Hereditary otovestibular dysfunction and Ménière's disease in a large Belgian family is caused by a missense mutation in the COCH gene.
    Verstreken M, Declau F, Wuyts FL, D'Haese P, Van Camp G, Fransen E, Van den Hauwe L, Buyle S, Smets RE, Feenstra L, Van der Stappen A, Van de Heyning PH.
    Otol Neurotol; 2001 Nov 19; 22(6):874-81. PubMed ID: 11698812
    [Abstract] [Full Text] [Related]

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