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Page 1
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: van maldergem lv, van de heyning ph, de kok yj, van camp g. 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. Nat Genet. 1998 Oct;20(2):194-7. doi: 10.1038/2503. Nat Genet. 1998. PMID: 9771715
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. Verstreken M, et al. Among authors: van de heyning ph, van der stappen a, van den hauwe l, van camp g. Otol Neurotol. 2001 Nov;22(6):874-81. doi: 10.1097/00129492-200111000-00028. Otol Neurotol. 2001. PMID: 11698812
A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
Cryns K, Orzan E, Murgia A, Huygen PL, Moreno F, del Castillo I, Chamberlin GP, Azaiez H, Prasad S, Cucci RA, Leonardi E, Snoeckx RL, Govaerts PJ, Van de Heyning PH, Van de Heyning CM, Smith RJ, Van Camp G. Cryns K, et al. Among authors: van de heyning ph, van de heyning cm, van camp g. J Med Genet. 2004 Mar;41(3):147-54. doi: 10.1136/jmg.2003.013896. J Med Genet. 2004. PMID: 14985372 Free PMC article.
A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36.
Van Den Bogaert K, Govaerts PJ, Schatteman I, Brown MR, Caethoven G, Offeciers FE, Somers T, Declau F, Coucke P, Van de Heyning P, Smith RJ, Van Camp G. Van Den Bogaert K, et al. Am J Hum Genet. 2001 Feb;68(2):495-500. doi: 10.1086/318185. Epub 2001 Jan 16. Am J Hum Genet. 2001. PMID: 11170898 Free PMC article.
Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment.
Van Eyken E, Van Camp G, Fransen E, Topsakal V, Hendrickx JJ, Demeester K, Van de Heyning P, Mäki-Torkko E, Hannula S, Sorri M, Jensen M, Parving A, Bille M, Baur M, Pfister M, Bonaconsa A, Mazzoli M, Orzan E, Espeso A, Stephens D, Verbruggen K, Huyghe J, Dhooge I, Huygen P, Kremer H, Cremers CW, Kunst S, Manninen M, Pyykkö I, Lacava A, Steffens M, Wienker TF, Van Laer L. Van Eyken E, et al. J Med Genet. 2007 Sep;44(9):570-8. doi: 10.1136/jmg.2007.049205. Epub 2007 May 18. J Med Genet. 2007. PMID: 17513527 Free PMC article.
623 results