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Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.
Khandelwal KD, Ishorst N, Zhou H, Ludwig KU, Venselaar H, Gilissen C, Thonissen M, van Rooij IA, Dreesen K, Steehouwer M, van de Vorst M, Bloemen M, van Beusekom E, Roosenboom J, Borstlap W, Admiraal R, Dormaar T, Schoenaers J, Vander Poorten V, Hens G, Verdonck A, Bergé S, Roeleveldt N, Vriend G, Devriendt K, Brunner HG, Mangold E, Hoischen A, van Bokhoven H, Carels CE. Khandelwal KD, et al. Among authors: verdonck a. J Dent Res. 2017 Feb;96(2):179-185. doi: 10.1177/0022034516678829. Epub 2016 Nov 13. J Dent Res. 2017. PMID: 27834299
A Comprehensive Craniofacial Study of 22q11.2 Deletion Syndrome.
Lewyllie A, Roosenboom J, Indencleef K, Claes P, Swillen A, Devriendt K, Carels C, Cadenas De Llano-Pérula M, Willems G, Hens G, Verdonck A. Lewyllie A, et al. Among authors: verdonck a. J Dent Res. 2017 Nov;96(12):1386-1391. doi: 10.1177/0022034517720630. Epub 2017 Jul 21. J Dent Res. 2017. PMID: 28732176
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.
Ockeloen CW, Khandelwal KD, Dreesen K, Ludwig KU, Sullivan R, van Rooij IALM, Thonissen M, Swinnen S, Phan M, Conte F, Ishorst N, Gilissen C, RoaFuentes L, van de Vorst M, Henkes A, Steehouwer M, van Beusekom E, Bloemen M, Vankeirsbilck B, Bergé S, Hens G, Schoenaers J, Poorten VV, Roosenboom J, Verdonck A, Devriendt K, Roeleveldt N, Jhangiani SN, Vissers LELM, Lupski JR, de Ligt J, Von den Hoff JW, Pfundt R, Brunner HG, Zhou H, Dixon J, Mangold E, van Bokhoven H, Dixon MJ, Kleefstra T, Hoischen A, Carels CEL. Ockeloen CW, et al. Among authors: verdonck a. Genet Med. 2016 Nov;18(11):1158-1162. doi: 10.1038/gim.2016.10. Epub 2016 Mar 10. Genet Med. 2016. PMID: 26963285 Free PMC article.
A novel MSX1 mutation in hypodontia.
De Muynck S, Schollen E, Matthijs G, Verdonck A, Devriendt K, Carels C. De Muynck S, et al. Among authors: verdonck a. Am J Med Genet A. 2004 Aug 1;128A(4):401-3. doi: 10.1002/ajmg.a.30181. Am J Med Genet A. 2004. PMID: 15264286
99 results