Van Esch H - Search Results

1

HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability.

Isrie M, Kalscheuer VM, Holvoet M, Fieremans N, Van Esch H, Devriendt K. Isrie M, et al. Among authors: van esch h. Eur J Med Genet. 2013 Jul;56(7):379-82. doi: 10.1016/j.ejmg.2013.05.005. Epub 2013 May 27. Eur J Med Genet. 2013. PMID: 23721686

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

Transcription factor GATA3 and the human HDR syndrome.

Van Esch H, Devriendt K. Van Esch H, et al. Cell Mol Life Sci. 2001 Aug;58(9):1296-300. doi: 10.1007/pl00000940. Cell Mol Life Sci. 2001. PMID: 11577985 Free PMC article. Review.

9

ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.

Van Esch H, Poirier K, de Zegher F, Holvoet M, Bienvenu T, Chelly J, Devriendt K, Fryns JP. Van Esch H, et al. Clin Genet. 2004 Jun;65(6):503-5. doi: 10.1111/j.1399-0004.2004.00256.x. Clin Genet. 2004. PMID: 15151512 No abstract available.

10

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.

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