van der Hout AH - Search Results

1

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy.

van Essen AJ, Mulder IM, van der Vlies P, van der Hout AH, Buys CH, Hofstra RM, den Dunnen JT. van Essen AJ, et al. Among authors: van der hout ah, van der vlies p. Am J Med Genet A. 2003 Apr 30;118A(3):296-8. doi: 10.1002/ajmg.a.10056. Am J Med Genet A. 2003. PMID: 12673664 No abstract available.

2

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.

Hofstra RM, Mulder IM, Vossen R, de Koning-Gans PA, Kraak M, Ginjaar IB, van der Hout AH, Bakker E, Buys CH, van Ommen GJ, van Essen AJ, den Dunnen JT. Hofstra RM, et al. Among authors: van essen aj, van der hout ah, van ommen gj. Hum Mutat. 2004 Jan;23(1):57-66. doi: 10.1002/humu.10283. Hum Mutat. 2004. PMID: 14695533

3

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

van Essen AJ, Kneppers AL, van der Hout AH, Scheffer H, Ginjaar IB, ten Kate LP, van Ommen GJ, Buys CH, Bakker E. van Essen AJ, et al. Among authors: van der hout ah, van ommen gj. J Med Genet. 1997 Oct;34(10):805-12. doi: 10.1136/jmg.34.10.805. J Med Genet. 1997. PMID: 9350811 Free PMC article.

4

Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.

Van Der Hout AH, Verlind E, Beemer FA, Buys CH, Hofstra RM, Scheffer H. Van Der Hout AH, et al. Hum Mutat. 2002 Sep;20(3):236. doi: 10.1002/humu.9061. Hum Mutat. 2002. PMID: 12204008

5

Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome.

Dauwerse JG, Bouman K, van Essen AJ, van Der Hout AH, Kolsters G, Breuning MH, Peters DJ. Dauwerse JG, et al. Among authors: van essen aj, van der hout ah. J Med Genet. 2002 Feb;39(2):136-41. doi: 10.1136/jmg.39.2.136. J Med Genet. 2002. PMID: 11836366 Free PMC article. No abstract available.

6

Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene.

van Tintelen JP, Tio RA, Kerstjens-Frederikse WS, van Berlo JH, Boven LG, Suurmeijer AJ, White SJ, den Dunnen JT, te Meerman GJ, Vos YJ, van der Hout AH, Osinga J, van den Berg MP, van Veldhuisen DJ, Buys CH, Hofstra RM, Pinto YM. van Tintelen JP, et al. Among authors: van der hout ah, van berlo jh, van den berg mp, van veldhuisen dj. J Am Coll Cardiol. 2007 Jun 26;49(25):2430-9. doi: 10.1016/j.jacc.2007.02.063. Epub 2007 Jun 11. J Am Coll Cardiol. 2007. PMID: 17599607 Free article.

7

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

van der Hout AH, Oudesluijs GG, Venema A, Verheij JB, Mol BG, Rump P, Brunner HG, Vos YJ, van Essen AJ. van der Hout AH, et al. Among authors: van essen aj. Eur J Hum Genet. 2008 Jun;16(6):673-9. doi: 10.1038/sj.ejhg.5202012. Epub 2008 Jan 30. Eur J Hum Genet. 2008. PMID: 18231121

8

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH, van den Ouweland AM, van der Luijt RB, Gille HJ, Bodmer D, Brüggenwirth H, Mulder IM, van der Vlies P, Elfferich P, Huisman MT, ten Berge AM, Kromosoeto J, Jansen RP, van Zon PH, Vriesman T, Arts N, Lange MB, Oosterwijk JC, Meijers-Heijboer H, Ausems MG, Hoogerbrugge N, Verhoef S, Halley DJ, Vos YJ, Hogervorst F, Ligtenberg M, Hofstra RM. van der Hout AH, et al. Among authors: van zon ph, van den ouweland am, van der vlies p, van der luijt rb. Hum Mutat. 2006 Jul;27(7):654-66. doi: 10.1002/humu.20340. Hum Mutat. 2006. PMID: 16683254

9

The region of common allelic losses in sporadic renal cell carcinoma is bordered by the loci D3S2 and THRB.

van der Hout AH, van der Vlies P, Wijmenga C, Li FP, Oosterhuis JW, Buys CH. van der Hout AH, et al. Among authors: van der vlies p. Genomics. 1991 Nov;11(3):537-42. doi: 10.1016/0888-7543(91)90060-r. Genomics. 1991. PMID: 1685475

10

Localization by in situ hybridization of three 3p probes with respect to the breakpoint in a t(3;8) in hereditary renal cell carcinoma.

van der Hout AH, Brown RS, Li FP, Buys CH. van der Hout AH, et al. Cancer Genet Cytogenet. 1991 Jan;51(1):121-4. doi: 10.1016/0165-4608(91)90017-o. Cancer Genet Cytogenet. 1991. PMID: 1984839

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