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Journal Abstract Search

160 related items for PubMed ID: 17264471

  • 1. 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; 12(2):77-84. PubMed ID: 17264471
    [Abstract] [Full Text] [Related]

  • 2. 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
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  • 3. 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
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  • 4. 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
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  • 5. Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers.
    Bischoff AM, Huygen PL, Kemperman MH, Pennings RJ, Bom SJ, Verhagen WI, Admiraal RJ, Kremer H, Cremers CW.
    Otol Neurotol; 2005 Sep; 26(5):918-25. PubMed ID: 16151338
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  • 6. Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family.
    Weegerink NJ, Huygen PL, Schraders M, Kremer H, Pennings RJ, Kunst HP.
    Hear Res; 2011 Dec; 282(1-2):167-77. PubMed ID: 21893181
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  • 7. 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
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  • 8. 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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  • 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
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  • 11. Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9.
    Bom SJ, Kemperman MH, De Kok YJ, Huygen PL, Verhagen WI, Cremers FP, Cremers CW.
    Laryngoscope; 1999 Sep; 109(9):1525-30. PubMed ID: 10499067
    [Abstract] [Full Text] [Related]

  • 12. Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I-A Cross-sectional Study of Hearing Function in 111 Carriers.
    JanssensdeVarebeke SPF, Moyaert J, Fransen E, Bulen B, Neesen C, Devroye K, van de Berg R, Pennings RJE, Topsakal V, Vanderveken O, Van Camp G, Van Rompaey V.
    Ear Hear; 1999 Sep; 42(6):1508-1524. PubMed ID: 34369416
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  • 13. Genotype-Phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9) Part II: A Prospective Cross-Sectional Study of the Vestibular Phenotype in 111 Carriers.
    JanssensdeVarebeke SPF, Moyaert J, Fransen E, Bulen B, Neesen C, Devroye K, van de Berg R, Pennings RJE, Topsakal V, Vanderveken O, Van Camp G, Van Rompaey V.
    Ear Hear; 1999 Sep; 42(6):1525-1543. PubMed ID: 34369417
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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
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  • 18. 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
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