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Journal Abstract Search

214 related items for PubMed ID: 14501450

  • 1. 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; 24(5):743-8. PubMed ID: 14501450
    [Abstract] [Full Text] [Related]

  • 2. 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; 22(6):874-81. PubMed ID: 11698812
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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; 26(6):477-83. PubMed ID: 11843927
    [Abstract] [Full Text] [Related]

  • 5. 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; 26(5):926-33. PubMed ID: 16151339
    [Abstract] [Full Text] [Related]

  • 6. 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; 8(2):361-6. PubMed ID: 9931344
    [Abstract] [Full Text] [Related]

  • 7. 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; 116(5):349-57. PubMed ID: 17561763
    [Abstract] [Full Text] [Related]

  • 8. 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; 8(8):1425-9. PubMed ID: 10400989
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. [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]

  • 11. 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 19; 273(10):2993-3002. PubMed ID: 26758463
    [Abstract] [Full Text] [Related]

  • 12. 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 19; 124 Suppl 1():100S-10S. PubMed ID: 25780252
    [Abstract] [Full Text] [Related]

  • 13. Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene.
    Pennings RJ, Huygen PL, Weston MD, van Aarem A, Wagenaar M, Kimberling WJ, Cremers CW.
    Otol Neurotol; 2003 Jan 19; 24(1):58-63. PubMed ID: 12544030
    [Abstract] [Full Text] [Related]

  • 14. Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W.
    Pauw RJ, Collin RW, Huygen PL, Hoefsloot LH, Kremer H, Cremers CW.
    Audiol Neurootol; 2007 Jan 19; 12(2):77-84. PubMed ID: 17264471
    [Abstract] [Full Text] [Related]

  • 15. 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 19; 36(12):1168-75. PubMed ID: 26256111
    [Abstract] [Full Text] [Related]

  • 16. Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation.
    Pauw RJ, Huygen PL, Colditz GM, Cremers CW.
    Ann Otol Rhinol Laryngol; 2011 Jun 19; 120(6):414-21. PubMed ID: 21774451
    [Abstract] [Full Text] [Related]

  • 17. The COCH gene: a frequent cause of hearing impairment and vestibular dysfunction?
    Fransen E, Van Camp G.
    Br J Audiol; 1999 Oct 19; 33(5):297-302. PubMed ID: 10890144
    [Abstract] [Full Text] [Related]

  • 18. DFNA9/COCH and its phenotype.
    Kemperman MH, Bom SJ, Lemaire FX, Verhagen WI, Huygen PL, Cremers CW.
    Adv Otorhinolaryngol; 2002 Oct 19; 61():66-72. PubMed ID: 12408065
    [No Abstract] [Full Text] [Related]

  • 19. 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 19; 77(10):1711-5. PubMed ID: 23993205
    [Abstract] [Full Text] [Related]

  • 20. 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 19; 276(5):1251-1262. PubMed ID: 30806805
    [Abstract] [Full Text] [Related]

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