Vermeesch JR - Search Results

1

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.

Franco LM, de Ravel T, Graham BH, Frenkel SM, Van Driessche J, Stankiewicz P, Lupski JR, Vermeesch JR, Cheung SW. Franco LM, et al. Among authors: vermeesch jr. Eur J Hum Genet. 2010 Feb;18(2):258-61. doi: 10.1038/ejhg.2009.164. Epub 2009 Oct 21. Eur J Hum Genet. 2010. PMID: 19844260 Free PMC article.

2

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

Devriendt K, Matthijs G, Van Dael R, Gewillig M, Eyskens B, Hjalgrim H, Dolmer B, McGaughran J, Bröndum-Nielsen K, Marynen P, Fryns JP, Vermeesch JR. Devriendt K, et al. Among authors: vermeesch jr. Am J Hum Genet. 1999 Apr;64(4):1119-26. doi: 10.1086/302330. Am J Hum Genet. 1999. PMID: 10090897 Free PMC article.

3

De novo interstitial tandem duplication of chromosome 20p12.1p13.

de Ravel TJ, Vermeesch JR, Fryns JP. de Ravel TJ, et al. Among authors: vermeesch jr. Am J Med Genet A. 2003 Feb 15;117A(1):76-9. doi: 10.1002/ajmg.a.10825. Am J Med Genet A. 2003. PMID: 12548744

4

Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation.

de Ravel TJ, Fryns JP, Van Driessche J, Vermeesch JR. de Ravel TJ, et al. Among authors: vermeesch jr. Am J Med Genet A. 2004 Jan 30;124A(3):259-62. doi: 10.1002/ajmg.a.20372. Am J Med Genet A. 2004. PMID: 14708098

5

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.

Van Buggenhout G, Melotte C, Dutta B, Froyen G, Van Hummelen P, Marynen P, Matthijs G, de Ravel T, Devriendt K, Fryns JP, Vermeesch JR. Van Buggenhout G, et al. Among authors: vermeesch jr. J Med Genet. 2004 Sep;41(9):691-8. doi: 10.1136/jmg.2003.016865. J Med Genet. 2004. PMID: 15342700 Free PMC article. No abstract available.

6

Post-zygotic origin of isochromosome 12p.

de Ravel TJ, Keymolen K, van Assche E, Wittevronghel I, Moerman P, Salden I, Matthijs G, Fryns JP, Vermeesch JR. de Ravel TJ, et al. Among authors: vermeesch jr. Prenat Diagn. 2004 Dec 15;24(12):984-8. doi: 10.1002/pd.956. Prenat Diagn. 2004. PMID: 15614858

7

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: vermeesch jr. 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

8

The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.

Van Buggenhout G, Van Ravenswaaij-Arts C, Mc Maas N, Thoelen R, Vogels A, Smeets D, Salden I, Matthijs G, Fryns JP, Vermeesch JR. Van Buggenhout G, et al. Among authors: vermeesch jr. Eur J Med Genet. 2005 Jul-Sep;48(3):276-89. doi: 10.1016/j.ejmg.2005.05.005. Eur J Med Genet. 2005. PMID: 16179223

9

Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.

Le Caignec C, Swillen A, Van Asche E, Fryns JP, Vermeesch JR. Le Caignec C, et al. Among authors: vermeesch jr. Eur J Med Genet. 2005 Jul-Sep;48(3):339-45. doi: 10.1016/j.ejmg.2005.04.010. Eur J Med Genet. 2005. PMID: 16179229

10

Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.

de Ravel T, Aerssens P, Vermeesch JR, Fryns JP. de Ravel T, et al. Among authors: vermeesch jr. Eur J Med Genet. 2005 Jul-Sep;48(3):355-9. doi: 10.1016/j.ejmg.2005.05.009. Eur J Med Genet. 2005. PMID: 16179232

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