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239 results

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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: huentelman mj. 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.
A genome-wide association study for age-related hearing impairment in the Saami.
Van Laer L, Huyghe JR, Hannula S, Van Eyken E, Stephan DA, Mäki-Torkko E, Aikio P, Fransen E, Lysholm-Bernacchi A, Sorri M, Huentelman MJ, Van Camp G. Van Laer L, et al. Among authors: huentelman mj. Eur J Hum Genet. 2010 Jun;18(6):685-93. doi: 10.1038/ejhg.2009.234. Epub 2010 Jan 13. Eur J Hum Genet. 2010. PMID: 20068591 Free PMC article.
Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
Fransen E, Bonneux S, Corneveaux JJ, Schrauwen I, Di Berardino F, White CH, Ohmen JD, Van de Heyning P, Ambrosetti U, Huentelman MJ, Van Camp G, Friedman RA. Fransen E, et al. Among authors: huentelman mj. Eur J Hum Genet. 2015 Jan;23(1):110-5. doi: 10.1038/ejhg.2014.56. Epub 2014 Jun 18. Eur J Hum Genet. 2015. PMID: 24939585 Free PMC article.
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: huentelman mj. 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.
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: huentelman mj. 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.
Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies.
Pearson JV, Huentelman MJ, Halperin RF, Tembe WD, Melquist S, Homer N, Brun M, Szelinger S, Coon KD, Zismann VL, Webster JA, Beach T, Sando SB, Aasly JO, Heun R, Jessen F, Kolsch H, Tsolaki M, Daniilidou M, Reiman EM, Papassotiropoulos A, Hutton ML, Stephan DA, Craig DW. Pearson JV, et al. Among authors: huentelman mj. Am J Hum Genet. 2007 Jan;80(1):126-39. doi: 10.1086/510686. Epub 2006 Dec 6. Am J Hum Genet. 2007. PMID: 17160900 Free PMC article.
The Autism Genome Project: goals and strategies.
Hu-Lince D, Craig DW, Huentelman MJ, Stephan DA. Hu-Lince D, et al. Among authors: huentelman mj. Am J Pharmacogenomics. 2005;5(4):233-46. doi: 10.2165/00129785-200505040-00004. Am J Pharmacogenomics. 2005. PMID: 16078860 Review.
239 results