Van Esch H - Search Results

1

Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains.

Vanmarsenille L, Giannandrea M, Fieremans N, Verbeeck J, Belet S, Raynaud M, Vogels A, Männik K, Õunap K, Jacqueline V, Briault S, Van Esch H, D'Adamo P, Froyen G. Vanmarsenille L, et al. Among authors: van esch h. Hum Mutat. 2014 Mar;35(3):377-83. doi: 10.1002/humu.22497. Hum Mutat. 2014. PMID: 24357492

2

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.

3

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: van hummelen p. 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

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

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB, van Bokhoven H, Van Esch H, Frints SG, Froyen G, Fryns JP, Raynaud M, Moizard MP, Ronce N, Bensalem A, Moraine C, Poirier K, Castelnau L, Saillour Y, Bienvenu T, Beldjord C, des Portes V, Chelly J, Turner G, Fullston T, Gecz J, Kuss AW, Tzschach A, Jensen LR, Lenzner S, Kalscheuer VM, Ropers HH, Hamel BC. de Brouwer AP, et al. Among authors: van esch h, van bokhoven h. Hum Mutat. 2007 Feb;28(2):207-8. doi: 10.1002/humu.9482. Hum Mutat. 2007. PMID: 17221867

7

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

8

Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.

Froyen G, Bauters M, Boyle J, Van Esch H, Govaerts K, van Bokhoven H, Ropers HH, Moraine C, Chelly J, Fryns JP, Marynen P, Gecz J, Turner G. Froyen G, et al. Among authors: van esch h, van bokhoven h. Hum Genet. 2007 Jun;121(5):539-47. doi: 10.1007/s00439-007-0343-1. Epub 2007 Feb 28. Hum Genet. 2007. PMID: 17333282

9

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

Froyen G, Van Esch H, Bauters M, Hollanders K, Frints SG, Vermeesch JR, Devriendt K, Fryns JP, Marynen P. Froyen G, et al. Among authors: van esch h. Hum Mutat. 2007 Oct;28(10):1034-42. doi: 10.1002/humu.20564. Hum Mutat. 2007. PMID: 17546640

10

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

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