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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. Fransen E, et al. Among authors: verstreken m. J Med Genet. 2001 Jan;38(1):61-5. doi: 10.1136/jmg.38.1.61. J Med Genet. 2001. PMID: 11332404 Free PMC article. No abstract available.
Nonsyndromic hearing impairment is associated with a mutation in DFNA5.
Van Laer L, Huizing EH, Verstreken M, van Zuijlen D, Wauters JG, Bossuyt PJ, Van de Heyning P, McGuirt WT, Smith RJ, Willems PJ, Legan PK, Richardson GP, Van Camp G. Van Laer L, et al. Among authors: verstreken m. Nat Genet. 1998 Oct;20(2):194-7. doi: 10.1038/2503. Nat Genet. 1998. PMID: 9771715
Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea.
Van Laer L, Van Camp G, van Zuijlen D, Green ED, Verstreken M, Schatteman I, Van de Heyning P, Balemans W, Coucke P, Greinwald JH, Smith RJ, Huizing E, Willems P. Van Laer L, et al. Among authors: verstreken m. Eur J Hum Genet. 1997 Nov-Dec;5(6):397-405. Eur J Hum Genet. 1997. PMID: 9450185
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
Coucke PJ, Van Hauwe P, Kelley PM, Kunst H, Schatteman I, Van Velzen D, Meyers J, Ensink RJ, Verstreken M, Declau F, Marres H, Kastury K, Bhasin S, McGuirt WT, Smith RJ, Cremers CW, Van de Heyning P, Willems PJ, Smith SD, Van Camp G. Coucke PJ, et al. Among authors: verstreken m. Hum Mol Genet. 1999 Jul;8(7):1321-8. doi: 10.1093/hmg/8.7.1321. Hum Mol Genet. 1999. PMID: 10369879
55 results