Devriendt K - Search Results

1

A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?

Gutierrez-Roelens I, De Roy L, Ovaert C, Sluysmans T, Devriendt K, Brunner HG, Vikkula M. Gutierrez-Roelens I, et al. Among authors: devriendt k. Eur J Hum Genet. 2006 Dec;14(12):1313-6. doi: 10.1038/sj.ejhg.5201702. Epub 2006 Aug 9. Eur J Hum Genet. 2006. PMID: 16896344

2

Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene.

Gutierrez-Roelens I, Sluysmans T, Gewillig M, Devriendt K, Vikkula M. Gutierrez-Roelens I, et al. Among authors: devriendt k. Hum Mutat. 2002 Jul;20(1):75-6. doi: 10.1002/humu.9041. Hum Mutat. 2002. PMID: 12112663

3

Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders.

Vogels A, Van Den Ende J, Keymolen K, Mortier G, Devriendt K, Legius E, Fryns JP. Vogels A, et al. Among authors: devriendt k. Eur J Hum Genet. 2004 Mar;12(3):238-40. doi: 10.1038/sj.ejhg.5201135. Eur J Hum Genet. 2004. PMID: 14679397

4

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

5

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients.

Thienpont B, Mertens L, de Ravel T, Eyskens B, Boshoff D, Maas N, Fryns JP, Gewillig M, Vermeesch JR, Devriendt K. Thienpont B, et al. Among authors: devriendt k. Eur Heart J. 2007 Nov;28(22):2778-84. doi: 10.1093/eurheartj/ehl560. Epub 2007 Mar 23. Eur Heart J. 2007. PMID: 17384091

6

Partial duplications of the ATRX gene cause the ATR-X syndrome.

Thienpont B, de Ravel T, Van Esch H, Van Schoubroeck D, Moerman P, Vermeesch JR, Fryns JP, Froyen G, Lacoste C, Badens C, Devriendt K. Thienpont B, et al. Among authors: devriendt k. Eur J Hum Genet. 2007 Oct;15(10):1094-7. doi: 10.1038/sj.ejhg.5201878. Epub 2007 Jun 20. Eur J Hum Genet. 2007. PMID: 17579672

7

Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.

Balikova I, Martens K, Melotte C, Amyere M, Van Vooren S, Moreau Y, Vetrie D, Fiegler H, Carter NP, Liehr T, Vikkula M, Matthijs G, Fryns JP, Casteels I, Devriendt K, Vermeesch JR. Balikova I, et al. Among authors: devriendt k. Am J Hum Genet. 2008 Jan;82(1):181-7. doi: 10.1016/j.ajhg.2007.08.001. Am J Hum Genet. 2008. PMID: 18179897 Free PMC article.

8

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA. Hoischen A, et al. Among authors: devriendt k. Nat Genet. 2010 Jun;42(6):483-5. doi: 10.1038/ng.581. Epub 2010 May 2. Nat Genet. 2010. PMID: 20436468

9

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.

10

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.

Dimitrov B, Balikova I, de Ravel T, Van Esch H, De Smedt M, Baten E, Vermeesch JR, Bradinova I, Simeonov E, Devriendt K, Fryns JP, Debeer P. Dimitrov B, et al. Among authors: devriendt k. J Med Genet. 2011 Feb;48(2):98-104. doi: 10.1136/jmg.2010.079491. Epub 2010 Nov 10. J Med Genet. 2011. PMID: 21068127

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