Devriendt K - Search Results

1

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.

Schlögel MJ, Mendola A, Fastré E, Vasudevan P, Devriendt K, de Ravel TJ, Van Esch H, Casteels I, Arroyo Carrera I, Cristofoli F, Fieggen K, Jones K, Lipson M, Balikova I, Singer A, Soller M, Mercedes Villanueva M, Revencu N, Boon LM, Brouillard P, Vikkula M. Schlögel MJ, et al. Among authors: devriendt k. Orphanet J Rare Dis. 2015 May 2;10:52. doi: 10.1186/s13023-015-0271-4. Orphanet J Rare Dis. 2015. PMID: 25934493 Free PMC article.

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

Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death.

Rossenbacker T, Carroll SJ, Liu H, Kuipéri C, de Ravel TJ, Devriendt K, Carmeliet P, Kass RS, Heidbüchel H. Rossenbacker T, et al. Among authors: devriendt k. Heart Rhythm. 2004 Nov;1(5):610-5. doi: 10.1016/j.hrthm.2004.07.001. Heart Rhythm. 2004. PMID: 15851228

4

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis.

Van Esch H, Hollanders K, Badisco L, Melotte C, Van Hummelen P, Vermeesch JR, Devriendt K, Fryns JP, Marynen P, Froyen G. Van Esch H, et al. Among authors: devriendt k. Hum Mol Genet. 2005 Jul 1;14(13):1795-803. doi: 10.1093/hmg/ddi186. Epub 2005 May 11. Hum Mol Genet. 2005. PMID: 15888481

5

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

6

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).

de Ravel TJ, Devriendt K, Fryns JP, Vermeesch JR. de Ravel TJ, et al. Among authors: devriendt k. Eur J Pediatr. 2007 Jul;166(7):637-43. doi: 10.1007/s00431-007-0463-6. Epub 2007 Mar 20. Eur J Pediatr. 2007. PMID: 17372759 Free article. Review.

7

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

8

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Gohring I, Devriendt K, de Ravel T, Bijlsma EK, Hennekam RC, Orrico A, Cohen M, Dreweke A, Reis A, Nurnberg P, Rauch A. Zweier C, et al. Among authors: devriendt k. Am J Hum Genet. 2007 May;80(5):994-1001. doi: 10.1086/515583. Epub 2007 Mar 23. Am J Hum Genet. 2007. PMID: 17436255 Free PMC article.

9

Subtelomeric imbalances in phenotypically normal individuals.

Balikova I, Menten B, de Ravel T, Le Caignec C, Thienpont B, Urbina M, Doco-Fenzy M, de Rademaeker M, Mortier G, Kooy F, van den Ende J, Devriendt K, Fryns JP, Speleman F, Vermeesch JR. Balikova I, et al. Among authors: devriendt k. Hum Mutat. 2007 Oct;28(10):958-67. doi: 10.1002/humu.20537. Hum Mutat. 2007. PMID: 17492636

10

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

Froyen G, Van Esch H, Bauters M, Hollanders K, Frints SG, Vermeesch JR, Devriendt K, Fryns JP, Marynen P. Froyen G, et al. Among authors: devriendt k. Hum Mutat. 2007 Oct;28(10):1034-42. doi: 10.1002/humu.20564. Hum Mutat. 2007. PMID: 17546640

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