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Page 1
Insufficient evidence for a role of SERPINF1 in otosclerosis.
Valgaeren H, Sommen M, Beyens M, Vandeweyer G, Schrauwen I, Schepers A, Schatteman I, Topsakal V, Dhooge I, Kunst H, Zanetti D, Huber AM, Hoischen A, Fransen E, Van Camp G. Valgaeren H, et al. Among authors: schrauwen i. Mol Genet Genomics. 2019 Aug;294(4):1001-1006. doi: 10.1007/s00438-019-01558-8. Epub 2019 Apr 9. Mol Genet Genomics. 2019. PMID: 30968248
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. 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.
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: schrauwen 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
A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9.
Bel Hadj Ali I, Thys M, Beltaief N, Schrauwen I, Hilgert N, Vanderstraeten K, Dieltjens N, Mnif E, Hachicha S, Besbes G, Ben Arab S, Van Camp G. Bel Hadj Ali I, et al. Among authors: schrauwen i. Hum Genet. 2008 Apr;123(3):267-72. doi: 10.1007/s00439-008-0470-3. Epub 2008 Jan 26. Hum Genet. 2008. PMID: 18224337 Clinical Trial.
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. 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.
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: schrauwen i. 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
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. Dunn P, et al. Among authors: schrauwen i. Am J Med Genet A. 2017 Mar;173(3):611-617. doi: 10.1002/ajmg.a.38069. Epub 2017 Jan 31. Am J Med Genet A. 2017. PMID: 28139025
131 results