Van Esch H - Search Results

1

The Fragile X premutation: new insights and clinical consequences.

Van Esch H. Van Esch H. Eur J Med Genet. 2006 Jan-Feb;49(1):1-8. doi: 10.1016/j.ejmg.2005.11.001. Epub 2005 Dec 5. Eur J Med Genet. 2006. PMID: 16473304 Review.

2

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

3

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.

Van Esch H, Zanni G, Holvoet M, Borghgraef M, Chelly J, Fryns JP, Devriendt K. Van Esch H, et al. Eur J Med Genet. 2005 Apr-Jun;48(2):145-52. doi: 10.1016/j.ejmg.2005.01.016. Epub 2005 Feb 12. Eur J Med Genet. 2005. PMID: 16053905

4

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz J, Moraine C, Marynen P, Fryns JP, Froyen G. Van Esch H, et al. Am J Hum Genet. 2005 Sep;77(3):442-53. doi: 10.1086/444549. Epub 2005 Jul 29. Am J Hum Genet. 2005. PMID: 16080119 Free PMC article.

5

X chromosome array-CGH for the identification of novel X-linked mental retardation genes.

Bauters M, Van Esch H, Marynen P, Froyen G. Bauters M, et al. Among authors: van esch h. Eur J Med Genet. 2005 Jul-Sep;48(3):263-75. doi: 10.1016/j.ejmg.2005.04.008. Eur J Med Genet. 2005. PMID: 16179222

6

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.

Van Esch H, Jansen A, Bauters M, Froyen G, Fryns JP. Van Esch H, et al. Am J Med Genet A. 2007 Feb 15;143(4):364-9. doi: 10.1002/ajmg.a.31572. Am J Med Genet A. 2007. PMID: 17256798

7

Partial duplications of the ATRX gene cause the ATR-X syndrome.

Thienpont B, de Ravel T, Van Esch H, Van Schoubroeck D, Moerman P, Vermeesch JR, Fryns JP, Froyen G, Lacoste C, Badens C, Devriendt K. Thienpont B, et al. Among authors: van esch h, van schoubroeck d. Eur J Hum Genet. 2007 Oct;15(10):1094-7. doi: 10.1038/sj.ejhg.5201878. Epub 2007 Jun 20. Eur J Hum Genet. 2007. PMID: 17579672

8

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.

Kousoulidou L, Parkel S, Zilina O, Palta P, Puusepp H, Remm M, Turner G, Boyle J, van Bokhoven H, de Brouwer A, Van Esch H, Froyen G, Ropers HH, Chelly J, Moraine C, Gecz J, Kurg A, Patsalis PC. Kousoulidou L, et al. Among authors: van esch h, van bokhoven h. Eur J Med Genet. 2007 Nov-Dec;50(6):399-410. doi: 10.1016/j.ejmg.2007.09.001. Epub 2007 Sep 29. Eur J Med Genet. 2007. PMID: 17980689

9

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP. Lugtenberg D, et al. Among authors: van esch h, van kogelenberg m, van bokhoven h. Eur J Hum Genet. 2009 Apr;17(4):444-53. doi: 10.1038/ejhg.2008.208. Epub 2008 Nov 5. Eur J Hum Genet. 2009. PMID: 18985075 Free PMC article.

10

Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation.

Van Esch H, Buekenhout L, Race V, Matthijs G. Van Esch H, et al. Eur J Med Genet. 2009 Jan-Feb;52(1):37-40. doi: 10.1016/j.ejmg.2008.11.001. Epub 2008 Nov 17. Eur J Med Genet. 2009. PMID: 19041959

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