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155 related items for PubMed ID: 21046548

  • 1. 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; 120(12):2489-93. PubMed ID: 21046548
    [Abstract] [Full Text] [Related]

  • 2. 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; 77(10):1711-5. PubMed ID: 23993205
    [Abstract] [Full Text] [Related]

  • 3. 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; 120(6):414-21. PubMed ID: 21774451
    [Abstract] [Full Text] [Related]

  • 4. Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH.
    Gu X, Su W, Tang M, Guo L, Zhao L, Li H.
    Neural Plast; 2016 Jun; 2016():5310192. PubMed ID: 28116169
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9.
    Masuda M, Mutai H, Arimoto Y, Nakano A, Matsunaga T.
    Biochem Biophys Res Commun; 2016 Jan 08; 469(2):270-4. PubMed ID: 26631968
    [Abstract] [Full Text] [Related]

  • 7. 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 08; 12(2):77-84. PubMed ID: 17264471
    [Abstract] [Full Text] [Related]

  • 8. A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype.
    Smits JJ, van Beelen E, Weegerink NJD, Oostrik J, Huygen PLM, Beynon AJ, Lanting CP, Kunst HPM, Schraders M, Kremer H, de Vrieze E, Pennings RJE.
    Otol Neurotol; 2021 Apr 01; 42(4):e399-e407. PubMed ID: 33710989
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 36(12):1168-75. PubMed ID: 26256111
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 273(10):2993-3002. PubMed ID: 26758463
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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 Jan 27; 12(1):e0170011. PubMed ID: 28099493
    [Abstract] [Full Text] [Related]

  • 13. 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 27; 272(1-2):42-8. PubMed ID: 21073934
    [Abstract] [Full Text] [Related]

  • 14. 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 27; 143(5):847-852. PubMed ID: 17368553
    [Abstract] [Full Text] [Related]

  • 15. 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 27; 8(2):361-6. PubMed ID: 9931344
    [Abstract] [Full Text] [Related]

  • 16. 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 27; 26(5):926-33. PubMed ID: 16151339
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 20(3):299-303. PubMed ID: 9806553
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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]

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