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Page 1
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. Snoeckx RL, et al. Among authors: parving a. Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380907 Free PMC article.
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: parving a. 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: parving a. 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
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: parving a. 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.
Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait.
Huyghe JR, Van Laer L, Hendrickx JJ, Fransen E, Demeester K, Topsakal V, Kunst S, Manninen M, Jensen M, Bonaconsa A, Mazzoli M, Baur M, Hannula S, Mäki-Torkko E, Espeso A, Van Eyken E, Flaquer A, Becker C, Stephens D, Sorri M, Orzan E, Bille M, Parving A, Pyykkö I, Cremers CW, Kremer H, Van de Heyning PH, Wienker TF, Nürnberg P, Pfister M, Van Camp G. Huyghe JR, et al. Among authors: parving a. Am J Hum Genet. 2008 Sep;83(3):401-7. doi: 10.1016/j.ajhg.2008.08.002. Epub 2008 Aug 28. Am J Hum Genet. 2008. PMID: 18760390 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: parving a. 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.
Two frequent missense mutations in Pendred syndrome.
Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJ, Dietrich NL, Ramesh A, Srisailapathy SC, Parving A, Cremers CW, Willems PJ, Smith RJ, Green ED, Van Camp G. Van Hauwe P, et al. Among authors: parving a. Hum Mol Genet. 1998 Jul;7(7):1099-104. doi: 10.1093/hmg/7.7.1099. Hum Mol Genet. 1998. PMID: 9618166
Familial aggregation of pure tone hearing thresholds in an aging European population.
Hendrickx JJ, Huyghe JR, Topsakal V, Demeester K, Wienker TF, Laer LV, Eyken EV, Fransen E, Mäki-Torkko E, Hannula S, Parving A, Jensen M, Tropitzsch A, Bonaconsa A, Mazzoli M, Espeso A, Verbruggen K, Huyghe J, Huygen PL, Kremer H, Kunst SJ, Diaz-Lacava AN, Steffens M, Pyykkö I, Dhooge I, Stephens D, Orzan E, Pfister MH, Bille M, Sorri M, Cremers CW, Camp GV, de Heyning PV. Hendrickx JJ, et al. Among authors: parving a. Otol Neurotol. 2013 Jul;34(5):838-44. doi: 10.1097/MAO.0b013e318288646a. Otol Neurotol. 2013. PMID: 23739559
147 results