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Page 1
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.
Hilgert N, Huentelman MJ, Thorburn AQ, Fransen E, Dieltjens N, Mueller-Malesinska M, Pollak A, Skorka A, Waligora J, Ploski R, Castorina P, Primignani P, Ambrosetti U, Murgia A, Orzan E, Pandya A, Arnos K, Norris V, Seeman P, Janousek P, Feldmann D, Marlin S, Denoyelle F, Nishimura CJ, Janecke A, Nekahm-Heis D, Martini A, Mennucci E, Tóth T, Sziklai I, Del Castillo I, Moreno F, Petersen MB, Iliadou V, Tekin M, Incesulu A, Nowakowska E, Bal J, Van de Heyning P, Roux AF, Blanchet C, Goizet C, Lancelot G, Fialho G, Caria H, Liu XZ, Xiaomei O, Govaerts P, Grønskov K, Hostmark K, Frei K, Dhooge I, Vlaeminck S, Kunstmann E, Van Laer L, Smith RJ, Van Camp G. Hilgert N, et al. Among authors: van laer l, van de heyning p, van camp g. Eur J Hum Genet. 2009 Apr;17(4):517-24. doi: 10.1038/ejhg.2008.201. Epub 2008 Nov 5. Eur J Hum Genet. 2009. PMID: 18985073 Free PMC article.
Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.
van Camp G, Coucke P, Balemans W, van Velzen D, van de Bilt C, van Laer L, Smith RJ, Fukushima K, Padberg GW, Frants RR, et al. van Camp G, et al. Among authors: van de bilt c, van laer l, van velzen d. Hum Mol Genet. 1995 Nov;4(11):2159-63. doi: 10.1093/hmg/4.11.2159. Hum Mol Genet. 1995. PMID: 8589696
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: van de heyning p, van camp g, van zuijlen d. Eur J Hum Genet. 1997 Nov-Dec;5(6):397-405. Eur J Hum Genet. 1997. PMID: 9450185
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.
Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJ, Somers T, Offeciers FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ, Willems PJ, Govaerts PJ, Van Camp G. Verhoeven K, et al. Among authors: van laer l, van de heyning p, van hauwe p, van camp g. Nat Genet. 1998 May;19(1):60-2. doi: 10.1038/ng0598-60. Nat Genet. 1998. PMID: 9590290
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: van de heyning p, van zuijlen d, van camp g. Nat Genet. 1998 Oct;20(2):194-7. doi: 10.1038/2503. Nat Genet. 1998. PMID: 9771715
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.
Verhoeven K, Ensink RJ, Tiranti V, Huygen PL, Johnson DF, Schatteman I, Van Laer L, Verstreken M, Van de Heyning P, Fischel-Ghodsian N, Zeviani M, Cremers CW, Willems PJ, Van Camp G. Verhoeven K, et al. Among authors: van laer l, van de heyning p, van camp g. Eur J Hum Genet. 1999 Jan;7(1):45-51. doi: 10.1038/sj.ejhg.5200247. Eur J Hum Genet. 1999. PMID: 10094190
175 results