van der Vlies P - 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

FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions.

Dijkhuizen T, van Essen T, van der Vlies P, Verheij JB, Sikkema-Raddatz B, van der Veen AY, Gerssen-Schoorl KB, Buys CH, Kok K. Dijkhuizen T, et al. Among authors: van der veen ay, van essen t, van der vlies p. Am J Med Genet A. 2006 Nov 15;140(22):2482-7. doi: 10.1002/ajmg.a.31487. Am J Med Genet A. 2006. PMID: 17036314

3

A substantial proportion of microsatellite-unstable colon tumors carry TP53 mutations while not showing chromosomal instability.

Westra JL, Boven LG, van der Vlies P, Faber H, Sikkema B, Schaapveld M, Dijkhuizen T, Hollema H, Buys CH, Plukker JT, Kok K, Hofstra RM. Westra JL, et al. Among authors: van der vlies p. Genes Chromosomes Cancer. 2005 Jun;43(2):194-201. doi: 10.1002/gcc.20148. Genes Chromosomes Cancer. 2005. PMID: 15729700

4

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

5

Three novel KCNA1 mutations in episodic ataxia type I families.

Scheffer H, Brunt ER, Mol GJ, van der Vlies P, Stulp RP, Verlind E, Mantel G, Averyanov YN, Hofstra RM, Buys CH. Scheffer H, et al. Among authors: van der vlies p. Hum Genet. 1998 Apr;102(4):464-6. doi: 10.1007/s004390050722. Hum Genet. 1998. PMID: 9600245

6

Improvements in gel composition and electrophoretic conditions for broad-range mutation analysis by denaturing gradient gel electrophoresis.

Hayes VM, Wu Y, Osinga J, Mulder IM, van der Vlies P, Elfferich P, Buys CH, Hofstra RM. Hayes VM, et al. Among authors: van der vlies p. Nucleic Acids Res. 1999 Oct 15;27(20):e29. doi: 10.1093/nar/27.20.e29. Nucleic Acids Res. 1999. PMID: 10497279 Free PMC article.

7

Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense.

Scheffer H, Van Der Vlies P, Burton M, Verlind E, Moll AC, Imhof SM, Buys CH. Scheffer H, et al. Among authors: van der vlies p. J Med Genet. 2000 Jul;37(7):E6. doi: 10.1136/jmg.37.7.e6. J Med Genet. 2000. PMID: 10882758 Free PMC article. No abstract available.

8

Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation.

Kok K, Dijkhuizen T, Swart YE, Zorgdrager H, van der Vlies P, Fehrmann R, te Meerman GJ, Gerssen-Schoorl KB, van Essen T, Sikkema-Raddatz B, Buys CH. Kok K, et al. Among authors: van essen t, van der vlies p. Eur J Med Genet. 2005 Jul-Sep;48(3):250-62. doi: 10.1016/j.ejmg.2005.04.007. Eur J Med Genet. 2005. PMID: 16179221

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

Loss of heterozygosity at the short arm of chromosome 3 in renal-cell cancer correlates with the cytological tumour type.

van der Hout AH, van den Berg E, van der Vlies P, Dijkhuizen T, Störkel S, Oosterhuis JW, de Jong B, Buys CH. van der Hout AH, et al. Among authors: van den berg e, van der vlies p. Int J Cancer. 1993 Feb 1;53(3):353-7. doi: 10.1002/ijc.2910530302. Int J Cancer. 1993. PMID: 8094071

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