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Page 1
Nonsyndromic hearing loss.
Van Laer L, Cryns K, Smith RJ, Van Camp G. Van Laer L, et al. Among authors: van camp g. Ear Hear. 2003 Aug;24(4):275-88. doi: 10.1097/01.AUD.0000079805.04016.03. Ear Hear. 2003. PMID: 12923419 Review.
A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.
Thys M, Van Den Bogaert K, Iliadou V, Vanderstraeten K, Dieltjens N, Schrauwen I, Chen W, Eleftheriades N, Grigoriadou M, Pauw RJ, Cremers CR, Smith RJ, Petersen MB, Van Camp G. Thys M, et al. Among authors: van den bogaert k, van camp g. Eur J Hum Genet. 2007 Mar;15(3):362-8. doi: 10.1038/sj.ejhg.5201761. Epub 2007 Jan 10. Eur J Hum Genet. 2007. PMID: 17213839
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: van den bogaert k, van de heyning p, van camp g. 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
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: van de heyning p, van camp g. 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.
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.
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: van de heyning ph, van eyken e, van laer l, van camp g. 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.
545 results