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Page 1
Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly.
Bilal M, Khan H, Khan MJ, Haack TB, Buchert R, Liaqat K, Ullah K, Ahmed S, Bharadwaj T, Acharya A, Peralta S, Najumuddin, Ali H, Hasni MS, Schrauwen I, Ullah A, Ahmad W, Leal SM. Bilal M, et al. Among authors: schrauwen i. Eur J Hum Genet. 2023 Nov;31(11):1270-1274. doi: 10.1038/s41431-023-01450-5. Epub 2023 Sep 8. Eur J Hum Genet. 2023. PMID: 37684519 Free PMC article.
A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.
Schrauwen I, Szelinger S, Siniard AL, Corneveaux JJ, Kurdoglu A, Richholt R, De Both M, Malenica I, Swaminathan S, Rangasamy S, Kulkarni N, Bernes S, Buchhalter J, Ramsey K, Craig DW, Narayanan V, Huentelman MJ. Schrauwen I, et al. Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3896-904. doi: 10.1167/iovs.14-16261. Invest Ophthalmol Vis Sci. 2015. PMID: 26091538
Clinical and genetic analysis of two Tunisian otosclerosis families.
Ali IB, Thys M, Beltaief N, Schrauwen I, Dieltjens N, Vanderstraeten K, Besbes G, Mnif E, Hachicha S, Arab SB, Camp GV. Ali IB, et al. Among authors: schrauwen i. Am J Med Genet A. 2007 Jul 15;143A(14):1653-60. doi: 10.1002/ajmg.a.31806. Am J Med Genet A. 2007. PMID: 17568407
Genetic association analysis in a clinically and histologically confirmed otosclerosis population confirms association with the TGFB1 gene but suggests an association of the RELN gene with a clinically indistinguishable otosclerosis-like phenotype.
Sommen M, Van Camp G, Liktor B, Csomor P, Fransen E, Sziklai I, Schrauwen I, Karosi T. Sommen M, et al. Among authors: schrauwen i. Otol Neurotol. 2014 Jul;35(6):1058-64. doi: 10.1097/MAO.0000000000000334. Otol Neurotol. 2014. PMID: 24643032
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: schrauwen i. Laryngoscope. 2011 Apr;121(4):838-45. doi: 10.1002/lary.21463. Laryngoscope. 2011. PMID: 21433022
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, Zhang Y, Sourbron J, Adriaenssens E, Mullen P, Wiencek P, Hardies K, Lee JS, Giong HK, Distelmaier F, Elpeleg O, Helbig KL, Hersh J, Isikay S, Jordan E, Karaca E, Kecskes A, Lupski JR, Kovacs-Nagy R, May P, Narayanan V, Pendziwiat M, Ramsey K, Rangasamy S, Shinde DN, Spiegel R, Timmerman V, von Spiczak S, Helbig I; C4RCD Research Group; AR working group of the EuroEPINOMICS RES Consortium; Weckhuysen S, Francklyn C, Antonellis A, de Witte P, De Jonghe P. Siekierska A, et al. Nat Commun. 2019 Feb 12;10(1):708. doi: 10.1038/s41467-018-07953-w. Nat Commun. 2019. PMID: 30755616 Free PMC article.
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
134 results