Van Driessche J - Search Results

1

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements.

Dimitrov BI, de Ravel T, Van Driessche J, de Die-Smulders C, Toutain A, Vermeesch JR, Fryns JP, Devriendt K, Debeer P. Dimitrov BI, et al. Among authors: van driessche j. J Med Genet. 2010 Feb;47(2):103-11. doi: 10.1136/jmg.2008.065888. Epub 2009 Jul 6. J Med Genet. 2010. PMID: 19584065

2

"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion.

de Ravel T, Balikova I, Van Driessche J, Vermeesch J, Fryns JP. de Ravel T, et al. Among authors: van driessche j. Am J Med Genet A. 2009 Jun;149A(6):1315-6. doi: 10.1002/ajmg.a.32817. Am J Med Genet A. 2009. PMID: 19449408 No abstract available.

3

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: van driessche j. 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

4

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: van driessche j. 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.

5

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features.

Fieremans N, Van Esch H, de Ravel T, Van Driessche J, Belet S, Bauters M, Froyen G. Fieremans N, et al. Among authors: van driessche j. Eur J Med Genet. 2015 May;58(5):324-7. doi: 10.1016/j.ejmg.2015.03.003. Epub 2015 Apr 7. Eur J Med Genet. 2015. PMID: 25858702

6

Macrocephaly, mental retardation, dysmorphism, and spastic paraplegia.

de Ravel TJ, Van Driessche J, Fryns JP. de Ravel TJ, et al. Among authors: van driessche j. Am J Med Genet A. 2004 Jun 15;127A(3):329-30. doi: 10.1002/ajmg.a.30034. Am J Med Genet A. 2004. PMID: 15150792 No abstract available.

7

A genetic diagnostic survey in an institutionalized population of 116 moderately to severely retarded male patients: the Rekem experience.

Schaap C, Schrander-Stumpel CT, Colla-Pijkels ET, Van Driessche J, Kusters R, Fryns JP. Schaap C, et al. Among authors: van driessche j. Genet Couns. 1995;6(3):251-8. Genet Couns. 1995. PMID: 8588855

8

Posterior fossa venous anomaly and ipsilateral acoustic neuroma: two cases.

Wilms G, Goffin J, Van Driessche J, Demaerel P. Wilms G, et al. Among authors: van driessche j. Neuroradiology. 1992;34(4):337-9. doi: 10.1007/BF00588197. Neuroradiology. 1992. PMID: 1528449

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