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Page 1
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.
Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LCA, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'Lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, FitzPatrick DR; UK10K Consortium; Wilson DI, Mital S, Hurles ME. Al Turki S, et al. Among authors: devriendt k. Am J Hum Genet. 2016 Mar 3;98(3):592. doi: 10.1016/j.ajhg.2016.02.016. Epub 2016 Mar 3. Am J Hum Genet. 2016. PMID: 28863274 Free PMC article. No abstract available.
Anterior cervical hypertrichosis and mental retardation.
Thienpont B, Vermeesch J, Devriendt K. Thienpont B, et al. Among authors: devriendt k. Clin Dysmorphol. 2006 Jul;15(3):189-190. doi: 10.1097/01.mcd.0000204988.39119.9d. Clin Dysmorphol. 2006. PMID: 16760744
Sesn1 is a novel gene for left-right asymmetry and mediating nodal signaling.
Peeters H, Voz ML, Verschueren K, De Cat B, Pendeville H, Thienpont B, Schellens A, Belmont JW, David G, Van De Ven WJ, Fryns JP, Gewillig M, Huylebroeck D, Peers B, Devriendt K. Peeters H, et al. Among authors: devriendt k. Hum Mol Genet. 2006 Nov 15;15(22):3369-77. doi: 10.1093/hmg/ddl413. Epub 2006 Oct 12. Hum Mol Genet. 2006. PMID: 17038485 Free article.
Left-ventricular non-compaction in a patient with monosomy 1p36.
Thienpont B, Mertens L, Buyse G, Vermeesch JR, Devriendt K. Thienpont B, et al. Among authors: devriendt k. Eur J Med Genet. 2007 May-Jun;50(3):233-6. doi: 10.1016/j.ejmg.2007.01.002. Epub 2007 Jan 27. Eur J Med Genet. 2007. PMID: 17337261
Haploinsufficiency of TAB2 causes congenital heart defects in humans.
Thienpont B, Zhang L, Postma AV, Breckpot J, Tranchevent LC, Van Loo P, Møllgård K, Tommerup N, Bache I, Tümer Z, van Engelen K, Menten B, Mortier G, Waggoner D, Gewillig M, Moreau Y, Devriendt K, Larsen LA. Thienpont B, et al. Among authors: devriendt k. Am J Hum Genet. 2010 Jun 11;86(6):839-49. doi: 10.1016/j.ajhg.2010.04.011. Epub 2010 May 20. Am J Hum Genet. 2010. PMID: 20493459 Free PMC article.
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.
Cordell HJ, Töpf A, Mamasoula C, Postma AV, Bentham J, Zelenika D, Heath S, Blue G, Cosgrove C, Granados Riveron J, Darlay R, Soemedi R, Wilson IJ, Ayers KL, Rahman TJ, Hall D, Mulder BJ, Zwinderman AH, van Engelen K, Brook JD, Setchfield K, Bu'Lock FA, Thornborough C, O'Sullivan J, Stuart AG, Parsons J, Bhattacharya S, Winlaw D, Mital S, Gewillig M, Breckpot J, Devriendt K, Moorman AF, Rauch A, Lathrop GM, Keavney BD, Goodship JA. Cordell HJ, et al. Among authors: devriendt k. Hum Mol Genet. 2013 Apr 1;22(7):1473-81. doi: 10.1093/hmg/dds552. Epub 2013 Jan 7. Hum Mol Genet. 2013. PMID: 23297363 Free PMC article.
592 results