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409 results

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Page 1
Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders.
Thygesen JH, Wolfe K, McQuillin A, Viñas-Jornet M, Baena N, Brison N, D'Haenens G, Esteba-Castillo S, Gabau E, Ribas-Vidal N, Ruiz A, Vermeesch J, Weyts E, Novell R, Buggenhout GV, Strydom A, Bass N, Guitart M, Vogels A. Thygesen JH, et al. Among authors: vermeesch j. Br J Psychiatry. 2018 May;212(5):287-294. doi: 10.1192/bjp.2017.65. Br J Psychiatry. 2018. PMID: 29693535 Free PMC article.
Cryptic translocation t(5;18) in familial mental retardation.
Vogels A, Devriendt K, Vermeesch JR, Van Dael R, Marynen P, Dewaele P, Hageman J, Holvoet M, Fryns JP. Vogels A, et al. Among authors: vermeesch jr. Ann Genet. 2000 Jul-Dec;43(3-4):117-23. doi: 10.1016/s0003-3995(00)01024-8. Ann Genet. 2000. PMID: 11164192
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR. Hannes FD, et al. Among authors: vermeesch jr. J Med Genet. 2009 Apr;46(4):223-32. doi: 10.1136/jmg.2007.055202. Epub 2008 Jun 11. J Med Genet. 2009. PMID: 18550696 Free PMC article.
Array-based approaches in prenatal diagnosis.
Brady PD, Devriendt K, Deprest J, Vermeesch JR. Brady PD, et al. Among authors: vermeesch jr. Methods Mol Biol. 2012;838:151-71. doi: 10.1007/978-1-61779-507-7_7. Methods Mol Biol. 2012. PMID: 22228011
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management.
Bayindir B, Dehaspe L, Brison N, Brady P, Ardui S, Kammoun M, Van der Veken L, Lichtenbelt K, Van den Bogaert K, Van Houdt J, Peeters H, Van Esch H, de Ravel T, Legius E, Devriendt K, Vermeesch JR. Bayindir B, et al. Among authors: vermeesch jr. Eur J Hum Genet. 2015 Oct;23(10):1286-93. doi: 10.1038/ejhg.2014.282. Epub 2015 Jan 14. Eur J Hum Genet. 2015. PMID: 25585704 Free PMC article.
Clinical implementation of NIPT - technical and biological challenges.
Brady P, Brison N, Van Den Bogaert K, de Ravel T, Peeters H, Van Esch H, Devriendt K, Legius E, Vermeesch JR. Brady P, et al. Among authors: vermeesch jr. Clin Genet. 2016 May;89(5):523-30. doi: 10.1111/cge.12598. Epub 2015 May 4. Clin Genet. 2016. PMID: 25867715 Review.
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.
Breckpot J, Vercruyssen M, Weyts E, Vandevoort S, D'Haenens G, Van Buggenhout G, Leempoels L, Brischoux-Boucher E, Van Maldergem L, Renieri A, Mencarelli MA, D'Angelo C, Mericq V, Hoffer MJ, Tauber M, Molinas C, Castiglioni C, Brison N, Vermeesch JR, Danckaerts M, Sienaert P, Devriendt K, Vogels A. Breckpot J, et al. Among authors: vermeesch jr. Eur J Med Genet. 2016 Sep;59(9):436-43. doi: 10.1016/j.ejmg.2016.08.003. Epub 2016 Aug 9. Eur J Med Genet. 2016. PMID: 27519580
409 results