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Journal Abstract Search

138 related items for PubMed ID: 10890144

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

  • 4. 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]

  • 5. 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]

  • 6. 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]

  • 7. Absence of COCH mutations in patients with Meniere disease.
    Sanchez E, López-Escámez JA, López-Nevot MA, López-Nevot A, Cortes R, Martin J.
    Eur J Hum Genet; 2004 Jan; 12(1):75-8. PubMed ID: 14704763
    [Abstract] [Full Text] [Related]

  • 8. Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.
    Kamarinos M, McGill J, Lynch M, Dahl H.
    Hum Mutat; 2001 Apr; 17(4):351. PubMed ID: 11295836
    [Abstract] [Full Text] [Related]

  • 9. 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; 272(1-2):42-8. PubMed ID: 21073934
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. [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]

  • 12. On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice.
    Verdoodt D, Van Camp G, Ponsaerts P, Van Rompaey V.
    Hear Res; 2021 Mar 01; 401():108162. PubMed ID: 33421658
    [Abstract] [Full Text] [Related]

  • 13. Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9.
    Robertson NG, Resendes BL, Lin JS, Lee C, Aster JC, Adams JC, Morton CC.
    Hum Mol Genet; 2001 Oct 15; 10(22):2493-500. PubMed ID: 11709536
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 273(10):2993-3002. PubMed ID: 26758463
    [Abstract] [Full Text] [Related]

  • 15. Histopathology of the Human Inner Ear in the p.L114P COCH Mutation (DFNA9).
    Burgess BJ, O'Malley JT, Kamakura T, Kristiansen K, Robertson NG, Morton CC, Nadol JB.
    Audiol Neurootol; 2016 Oct 15; 21(2):88-97. PubMed ID: 27023102
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 36(12):1168-75. PubMed ID: 26256111
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. 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]

  • 19. 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]

  • 20. Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus.
    Gallant E, Francey L, Fetting H, Kaur M, Hakonarson H, Clark D, Devoto M, Krantz ID.
    Am J Otolaryngol; 2013 May 01; 34(3):230-5. PubMed ID: 23374487
    [Abstract] [Full Text] [Related]

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