Hofstra RM - Search Results

1

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: hofstra rm. Hum Mutat. 2006 Jul;27(7):654-66. doi: 10.1002/humu.20340. Hum Mutat. 2006. PMID: 16683254

2

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. Among authors: hofstra rm. Hum Mutat. 2002 Sep;20(3):236. doi: 10.1002/humu.9061. Hum Mutat. 2002. PMID: 12204008

3

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. Hum Mutat. 2004 Jan;23(1):57-66. doi: 10.1002/humu.10283. Hum Mutat. 2004. PMID: 14695533

4

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.

Hofstra RM, Spurdle AB, Eccles D, Foulkes WD, de Wind N, Hoogerbrugge N, Hogervorst FB; IARC Unclassified Genetic Variants Working Group. Hofstra RM, et al. Hum Mutat. 2008 Nov;29(11):1292-303. doi: 10.1002/humu.20894. Hum Mutat. 2008. PMID: 18951447 Free PMC article.

5

An updated and upgraded L1CAM mutation database.

Vos YJ, Hofstra RM. Vos YJ, et al. Among authors: hofstra rm. Hum Mutat. 2010 Jan;31(1):E1102-9. doi: 10.1002/humu.21172. Hum Mutat. 2010. PMID: 19953645

6

MUTYH and the mismatch repair system: partners in crime?

Niessen RC, Sijmons RH, Ou J, Olthof SG, Osinga J, Ligtenberg MJ, Hogervorst FB, Weiss MM, Tops CM, Hes FJ, de Bock GH, Buys CH, Kleibeuker JH, Hofstra RM. Niessen RC, et al. Among authors: hofstra rm. Hum Genet. 2006 Mar;119(1-2):206-11. doi: 10.1007/s00439-005-0118-5. Epub 2006 Jan 12. Hum Genet. 2006. PMID: 16408224

7

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis.

Vos YJ, de Walle HE, Bos KK, Stegeman JA, Ten Berge AM, Bruining M, van Maarle MC, Elting MW, den Hollander NS, Hamel B, Fortuna AM, Sunde LE, Stolte-Dijkstra I, Schrander-Stumpel CT, Hofstra RM. Vos YJ, et al. Among authors: hofstra rm. J Med Genet. 2010 Mar;47(3):169-75. doi: 10.1136/jmg.2009.071688. Epub 2009 Oct 20. J Med Genet. 2010. PMID: 19846429

8

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: hofstra rm. 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.

9

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.

Hofstra RM, Wu Y, Stulp RP, Elfferich P, Osinga J, Maas SM, Siderius L, Brooks AS, vd Ende JJ, Heydendael VM, Severijnen RS, Bax KM, Meijers C, Buys CH. Hofstra RM, et al. Hum Mutat. 2000;15(5):418-29. doi: 10.1002/(SICI)1098-1004(200005)15:5<418::AID-HUMU3>3.0.CO;2-2. Hum Mutat. 2000. PMID: 10790203

10

Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis.

Berends MJ, Wu Y, Sijmons RH, van der Sluis T, Ek WB, Ligtenberg MJ, Arts NJ, ten Hoor KA, Kleibeuker JH, de Vries EG, Mourits MJ, Hollema H, Buys CH, Hofstra RM, van der Zee AG. Berends MJ, et al. Among authors: hofstra rm. J Clin Oncol. 2003 Dec 1;21(23):4364-70. doi: 10.1200/JCO.2003.04.094. J Clin Oncol. 2003. PMID: 14645426

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