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Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.
Schrauwen I, Valgaeren H, Tomas-Roca L, Sommen M, Altunoglu U, Wesdorp M, Beyens M, Fransen E, Nasir A, Vandeweyer G, Schepers A, Rahmoun M, van Beusekom E, Huentelman MJ, Offeciers E, Dhooghe I, Huber A, Van de Heyning P, Zanetti D, De Leenheer EMR, Gilissen C, Hoischen A, Cremers CW, Verbist B, de Brouwer APM, Padberg GW, Pennings R, Kayserili H, Kremer H, Van Camp G, van Bokhoven H. Schrauwen I, et al. Among authors: cremers cw. Genet Med. 2019 May;21(5):1199-1208. doi: 10.1038/s41436-018-0300-5. Epub 2018 Oct 5. Genet Med. 2019. PMID: 30287925 Free article.
Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients.
Thys M, Schrauwen I, Vanderstraeten K, Dieltjens N, Fransen E, Ealy M, Cremers CW, van de Heyning P, Vincent R, Offeciers E, Smith RH, van Camp G. Thys M, et al. Among authors: cremers cw. Ann Hum Genet. 2009 Mar;73(2):171-5. doi: 10.1111/j.1469-1809.2009.00505.x. Epub 2009 Jan 30. Ann Hum Genet. 2009. PMID: 19207109
The phenotype of the first otosclerosis family linked to OTSC5.
Pauw RJ, De Leenheer EM, Van Den Bogaert K, Huygen PL, Van Camp G, Joosten FB, Cremers CW. Pauw RJ, et al. Among authors: cremers cw. Otol Neurotol. 2006 Apr;27(3):308-15. doi: 10.1097/00129492-200604000-00004. Otol Neurotol. 2006. PMID: 16639267
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: cremers cw. 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.
Phenotype of the first otosclerosis family linked to OTSC10.
Weegerink NJ, Schrauwen I, Huygen PL, Pennings RJ, Cremers CW, Van Camp G, Kunst HP. Weegerink NJ, et al. Among authors: cremers cw. Laryngoscope. 2011 Apr;121(4):838-45. doi: 10.1002/lary.21463. Laryngoscope. 2011. PMID: 21433022
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.
van Wijk E, Pennings RJ, te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, Cremers FP, Cremers CW, Kremer H. van Wijk E, et al. Among authors: cremers cw, cremers fp. Am J Hum Genet. 2004 Apr;74(4):738-44. doi: 10.1086/383096. Epub 2004 Mar 10. Am J Hum Genet. 2004. PMID: 15015129 Free PMC article.
438 results