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Journal Abstract Search

158 related items for PubMed ID: 24662630

  • 1. Focal sclerosis of semicircular canals with severe DFNA9 hearing impairment caused by a P51S COCH-mutation: is there a link?
    de Varebeke SP, Termote B, Van Camp G, Govaerts PJ, Schepers S, Cox T, Deben K, Ketelslagers K, Souverijns G.
    Otol Neurotol; 2014 Jul; 35(6):1077-86. PubMed ID: 24662630
    [Abstract] [Full Text] [Related]

  • 2. Does Vestibulo-Ocular Reflex (VOR) Gain Correlate With Radiological Findings in the Semi-Circular Canals in Patients Carrying the p.Pro51Ser (P51S) COCH Variant Causing DFNA9? Relationship Between the Three-Dimensional Video Head Impulse Test (vHIT) and MR/CT Imaging.
    Salah M, Moyaert J, Vanderveken O, Schepers S, Termote B, Van Rompaey V, Janssens de Varebeke S.
    Otol Neurotol; 2022 Mar 01; 43(3):e348-e354. PubMed ID: 35020687
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  • 3. Radiologic Features in Cochlear Implant Candidates: A Prospective Study Comparing Candidates Carrying the p.Pro51Ser Mutation in Coagulation Factor C Homology With Noncarriers.
    Beerten A, Bosmans H, Lauwers M, Vermeulen H, Janssens de Varebeke SP.
    Otol Neurotol; 2022 Oct 01; 43(9):e969-e975. PubMed ID: 36001698
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  • 4. Correlations Between Vestibular Function and Imaging of the Semicircular Canals in DFNA9 Patients.
    Ihtijarevic B, Janssens de Varebeke S, Mertens G, Dekeyzer S, Van de Heyning P, Van Rompaey V.
    Front Neurol; 2019 Oct 01; 10():1341. PubMed ID: 31998212
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  • 5. 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; 2019 Oct 01; 42(6):1508-1524. PubMed ID: 34369416
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  • 7. 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 01; 26(5):926-33. PubMed ID: 16151339
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  • 9. 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 01; 22(6):874-81. PubMed ID: 11698812
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  • 10. 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; 2001 Nov 01; 42(6):1525-1543. PubMed ID: 34369417
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  • 12. 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 01; 120(6):414-21. PubMed ID: 21774451
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  • 13. 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
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  • 14. Temporal bone imaging in osteogenesis imperfecta patients with hearing loss.
    Swinnen FK, Casselman JW, De Leenheer EM, Cremers CW, Dhooge IJ.
    Laryngoscope; 2013 Aug 01; 123(8):1988-95. PubMed ID: 23404366
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  • 16. A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction.
    Robertson NG, Jones SM, Sivakumaran TA, Giersch AB, Jurado SA, Call LM, Miller CE, Maison SF, Liberman MC, Morton CC.
    Hum Mol Genet; 2008 Nov 01; 17(21):3426-34. PubMed ID: 18697796
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  • 17. 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
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  • 18. 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 01; 124 Suppl 1():100S-10S. PubMed ID: 25780252
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  • 19. Rational design of a genomically humanized mouse model for dominantly inherited hearing loss, DFNA9.
    Verdoodt D, van Wijk E, Broekman S, Venselaar H, Aben F, Sels L, De Backer E, Gommeren H, Szewczyk K, Van Camp G, Ponsaerts P, Van Rompaey V, de Vrieze E.
    Hear Res; 2024 Feb 01; 442():108947. PubMed ID: 38218018
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  • 20. 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 01; 26(5):918-25. PubMed ID: 16151338
    [Abstract] [Full Text] [Related]

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