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Journal Abstract Search

213 related items for PubMed ID: 10400989

  • 21. 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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  • 22. 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
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  • 25. Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association.
    Gabriková D, Frykholm C, Friberg U, Lahsaee S, Entesarian M, Dahl N, Klar J.
    J Hum Genet; 2010 Dec; 55(12):834-7. PubMed ID: 20927121
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  • 26. 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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  • 28. Genetic aspects and clinical characteristics of familial Meniere's disease in a South Korean population.
    Lee JM, Kim MJ, Jung J, Kim HJ, Seo YJ, Kim SH.
    Laryngoscope; 2015 Sep; 125(9):2175-80. PubMed ID: 25946228
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  • 34. Is there a relation between acoustic trauma or noise-induced hearing loss and a subsequent appearance of Ménière's Disease? An epidemiologic study of 17245 cases and a review of the literature.
    Segal S, Eviatar E, Berenholz L, Kessler A, Shlamkovitch N.
    Otol Neurotol; 2003 May; 24(3):387-91. PubMed ID: 12806289
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  • 35. DFNA9 is a progressive audiovestibular dysfunction with a microfibrillar deposit in the inner ear.
    Khetarpal U.
    Laryngoscope; 2000 Aug; 110(8):1379-84. PubMed ID: 10942145
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  • 36. Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease.
    Escalera-Balsera A, Roman-Naranjo P, Lopez-Escamez JA.
    Genes (Basel); 2020 Nov 27; 11(12):. PubMed ID: 33260921
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  • 37. Genetic aspects of familial Ménière's disease.
    Arweiler-Harbeck D, Horsthemke B, Jahnke K, Hennies HC.
    Otol Neurotol; 2011 Jun 27; 32(4):695-700. PubMed ID: 21436747
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  • 38. A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation.
    Fransen E, Verstreken M, Bom SJ, Lemaire F, Kemperman MH, De Kok YJ, Wuyts FL, Verhagen WI, Huygen PL, McGuirt WT, Smith RJ, Van Maldergem LV, Declau F, Cremers CW, Van De Heyning PH, Cremers FP, Van Camp G.
    J Med Genet; 2001 Jan 27; 38(1):61-5. PubMed ID: 11332404
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  • 39. 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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  • 40. Enrichment of damaging missense variants in genes related with axonal guidance signalling in sporadic Meniere's disease.
    Gallego-Martinez A, Requena T, Roman-Naranjo P, May P, Lopez-Escamez JA.
    J Med Genet; 2020 Feb 01; 57(2):82-88. PubMed ID: 31494579
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