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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: govaerts p. 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.
Aminoglycoside-induced ototoxicity.
Govaerts PJ, Claes J, van de Heyning PH, Jorens PG, Marquet J, De Broe ME. Govaerts PJ, et al. Toxicol Lett. 1990 Aug;52(3):227-51. doi: 10.1016/0378-4274(90)90033-i. Toxicol Lett. 1990. PMID: 2202080 Review.
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: govaerts pj. Nat Genet. 1998 May;19(1):60-2. doi: 10.1038/ng0598-60. Nat Genet. 1998. PMID: 9590290
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. Among authors: govaerts pj. 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.
Clinical presentation of DFNA8-DFNA12.
Govaerts PJ, De Ceulaer G, Daemers K, Verhoeven K, Van Camp G, Schatteman I, Verstreken M, Willems PJ, Somers T, Offeciers FE. Govaerts PJ, et al. Adv Otorhinolaryngol. 2002;61:60-5. doi: 10.1159/000066805. Adv Otorhinolaryngol. 2002. PMID: 12408064 No abstract available.
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: govaerts pj. J Med Genet. 2004 Mar;41(3):147-54. doi: 10.1136/jmg.2003.013896. J Med Genet. 2004. PMID: 14985372 Free PMC article.
134 results