Van Esch H - Search Results

1

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.

Tao J, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M, Sperner J, Fryns JP, Schwinger E, Gécz J, Ropers HH, Kalscheuer VM. Tao J, et al. Among authors: van esch h. Am J Hum Genet. 2004 Dec;75(6):1149-54. doi: 10.1086/426460. Am J Hum Genet. 2004. PMID: 15499549 Free PMC article.

2

Vesico-ureteral reflux: a genetic condition?

Devriendt K, Groenen P, Van Esch H, van Dijck M, Van de Ven W, Fryns JP, Proesmans W. Devriendt K, et al. Among authors: van esch h, van dijck m, van de ven w. Eur J Pediatr. 1998 Apr;157(4):265-71. doi: 10.1007/s004310050808. Eur J Pediatr. 1998. PMID: 9578958 Review.

3

The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome.

Van Esch H, Groenen P, Fryns JP, Van de Ven W, Devriendt K. Van Esch H, et al. Among authors: van de ven w. Genet Couns. 1999;10(1):59-65. Genet Couns. 1999. PMID: 10191430

4

Partial DiGeorge syndrome in two patients with a 10p rearrangement.

Van Esch H, Groenen P, Daw S, Poffyn A, Holvoet M, Scambler P, Fryns JP, Van de Ven W, Devriendt K. Van Esch H, et al. Among authors: van de ven w. Clin Genet. 1999 Apr;55(4):269-76. doi: 10.1034/j.1399-0004.1999.550410.x. Clin Genet. 1999. PMID: 10361989

5

Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli.

Devriendt K, Jaeken J, Matthijs G, Van Esch H, Debeer P, Gewillig M, Fryns JP. Devriendt K, et al. Among authors: van esch h. Am J Hum Genet. 1999 Jul;65(1):249-51. doi: 10.1086/302452. Am J Hum Genet. 1999. PMID: 10364539 Free PMC article. No abstract available.

6

GATA3 haplo-insufficiency causes human HDR syndrome.

Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K. Van Esch H, et al. Among authors: van de ven w. Nature. 2000 Jul 27;406(6794):419-22. doi: 10.1038/35019088. Nature. 2000. PMID: 10935639

7

Recurrent involvement of chromosomal region 6q21 in heterotaxy.

Peeters H, Debeer P, Groenen P, Van Esch H, Vanderlinden G, Eyskens B, Mertens L, Gewillig M, Van de Ven W, Fryns JP, Devriendt K. Peeters H, et al. Among authors: van esch h, van de ven w. Am J Med Genet. 2001 Sep 15;103(1):44-7. doi: 10.1002/ajmg.1499. Am J Med Genet. 2001. PMID: 11562933

8

Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation.

Bienvenu T, Poirier K, Van Esch H, Hamel B, Moraine C, Fryns JP, Ropers HH, Beldjord C, Yntema HG, Chelly J. Bienvenu T, et al. Among authors: van esch h. J Med Genet. 2003 May;40(5):357-9. doi: 10.1136/jmg.40.5.357. J Med Genet. 2003. PMID: 12746399 Free PMC article. No abstract available.

9

Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia.

Van Esch H, Dom R, Bex D, Salden I, Caeckebeke J, Wibail A, Borghgraef M, Legius E, Fryns JP, Matthijs G. Van Esch H, et al. Eur J Hum Genet. 2005 Jan;13(1):121-3. doi: 10.1038/sj.ejhg.5201312. Eur J Hum Genet. 2005. PMID: 15483640

10

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

Jensen LR, Amende M, Gurok U, Moser B, Gimmel V, Tzschach A, Janecke AR, Tariverdian G, Chelly J, Fryns JP, Van Esch H, Kleefstra T, Hamel B, Moraine C, Gecz J, Turner G, Reinhardt R, Kalscheuer VM, Ropers HH, Lenzner S. Jensen LR, et al. Among authors: van esch h. Am J Hum Genet. 2005 Feb;76(2):227-36. doi: 10.1086/427563. Epub 2004 Dec 7. Am J Hum Genet. 2005. PMID: 15586325 Free PMC article.

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