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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: dhooge i. 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.
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. Among authors: dhooge i. 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.
The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations.
Thys M, Schrauwen I, Vanderstraeten K, Janssens K, Dieltjens N, Van Den Bogaert K, Fransen E, Chen W, Ealy M, Claustres M, Cremers CR, Dhooge I, Declau F, Claes J, Van de Heyning P, Vincent R, Somers T, Offeciers E, Smith RJ, Van Camp G. Thys M, et al. Among authors: dhooge i. Hum Mol Genet. 2007 Sep 1;16(17):2021-30. doi: 10.1093/hmg/ddm150. Epub 2007 Jun 22. Hum Mol Genet. 2007. PMID: 17588962
The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss.
Van Eyken E, Van Laer L, 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 C, Kunst S, Manninen M, Pyykkö I, Rajkowska E, Pawelczyk M, Sliwinska-Kowalska M, Steffens M, Wienker T, Van Camp G. Van Eyken E, et al. Among authors: dhooge i. Otol Neurotol. 2007 Oct;28(7):970-5. doi: 10.197/MAO.0b013e3180dca1b9. Otol Neurotol. 2007. PMID: 17909436
The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment.
Van Laer L, Van Eyken E, Fransen E, Huyghe JR, Topsakal V, Hendrickx JJ, Hannula S, Mäki-Torkko E, Jensen M, Demeester K, Baur M, Bonaconsa A, Mazzoli M, Espeso A, Verbruggen K, Huyghe J, Huygen P, Kunst S, Manninen M, Konings A, Diaz-Lacava AN, Steffens M, Wienker TF, Pyykkö I, Cremers CW, Kremer H, Dhooge I, Stephens D, Orzan E, Pfister M, Bille M, Parving A, Sorri M, Van de Heyning PH, Van Camp G. Van Laer L, et al. Among authors: dhooge i. Hum Mol Genet. 2008 Jan 15;17(2):159-69. doi: 10.1093/hmg/ddm292. Epub 2007 Oct 6. Hum Mol Genet. 2008. PMID: 17921507
Association of bone morphogenetic proteins with otosclerosis.
Schrauwen I, Thys M, Vanderstraeten K, Fransen E, Dieltjens N, Huyghe JR, Ealy M, Claustres M, Cremers CR, Dhooge I, Declau F, Van de Heyning P, Vincent R, Somers T, Offeciers E, Smith RJ, Van Camp G. Schrauwen I, et al. Among authors: dhooge i. J Bone Miner Res. 2008 Apr;23(4):507-16. doi: 10.1359/jbmr.071112. J Bone Miner Res. 2008. PMID: 18021008 Free PMC article.
Familial aggregation of tinnitus: a European multicentre study.
Hendrickx JJ, Huyghe JR, Demeester K, Topsakal V, Van Eyken E, Fransen E, Mäki-Torkko E, Hannula S, Jensen M, Tropitzsch A, Bonaconsa A, Mazzoli M, Espeso A, Verbruggen K, Huyghe J, Huygen PL, Kremer H, Kunst SJ, Manninen M, Diaz-Lacava AN, Steffens M, Parving A, Pyykkö I, Dhooge I, Stephens D, Orzan E, Pfister MH, Bille M, Sorri M, Cremers CW, Van Laer L, Van Camp G, Wienker TF, Van de Heyning P. Hendrickx JJ, et al. Among authors: dhooge i. B-ENT. 2007;3 Suppl 7:51-60. B-ENT. 2007. PMID: 18225608
Occupational noise, smoking, and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective: a European population-based multicenter study.
Fransen E, Topsakal V, Hendrickx JJ, Van Laer L, Huyghe JR, Van Eyken E, Lemkens N, Hannula S, Mäki-Torkko E, Jensen M, Demeester K, Tropitzsch A, Bonaconsa A, Mazzoli M, Espeso A, Verbruggen K, Huyghe J, Huygen PL, Kunst S, Manninen M, Diaz-Lacava A, Steffens M, Wienker TF, Pyykkö I, Cremers CW, Kremer H, Dhooge I, Stephens D, Orzan E, Pfister M, Bille M, Parving A, Sorri M, Van de Heyning P, Van Camp G. Fransen E, et al. Among authors: dhooge i. J Assoc Res Otolaryngol. 2008 Sep;9(3):264-76; discussion 261-3. doi: 10.1007/s10162-008-0123-1. Epub 2008 Jun 10. J Assoc Res Otolaryngol. 2008. PMID: 18543032 Free PMC article.
GRM7 variants confer susceptibility to age-related hearing impairment.
Friedman RA, Van Laer L, Huentelman MJ, Sheth SS, Van Eyken E, Corneveaux JJ, Tembe WD, Halperin RF, Thorburn AQ, Thys S, Bonneux S, Fransen E, Huyghe J, Pyykkö I, Cremers CW, Kremer H, Dhooge I, Stephens D, Orzan E, Pfister M, Bille M, Parving A, Sorri M, Van de Heyning PH, Makmura L, Ohmen JD, Linthicum FH Jr, Fayad JN, Pearson JV, Craig DW, Stephan DA, Van Camp G. Friedman RA, et al. Among authors: dhooge i. Hum Mol Genet. 2009 Feb 15;18(4):785-96. doi: 10.1093/hmg/ddn402. Epub 2008 Dec 1. Hum Mol Genet. 2009. PMID: 19047183 Free PMC article.
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.
Schrauwen I, Ealy M, Huentelman MJ, Thys M, Homer N, Vanderstraeten K, Fransen E, Corneveaux JJ, Craig DW, Claustres M, Cremers CW, Dhooge I, Van de Heyning P, Vincent R, Offeciers E, Smith RJ, Van Camp G. Schrauwen I, et al. Among authors: dhooge i. Am J Hum Genet. 2009 Mar;84(3):328-38. doi: 10.1016/j.ajhg.2009.01.023. Epub 2009 Feb 19. Am J Hum Genet. 2009. PMID: 19230858 Free PMC article.
218 results