Hofstra RM - Search Results

1

Charles Buys (1942-2014).

Sijmons RH, te Meerman GJ, Hofstra RM. Sijmons RH, et al. Among authors: hofstra rm. Eur J Hum Genet. 2014 Dec;22(12):1343-4. doi: 10.1038/ejhg.2014.207. Eur J Hum Genet. 2014. PMID: 25393683 Free PMC article. No abstract available.

2

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

Berends MJ, Wu Y, Sijmons RH, Mensink RG, van der Sluis T, Hordijk-Hos JM, de Vries EG, Hollema H, Karrenbeld A, Buys CH, van der Zee AG, Hofstra RM, Kleibeuker JH. Berends MJ, et al. Among authors: hofstra rm. Am J Hum Genet. 2002 Jan;70(1):26-37. doi: 10.1086/337944. Am J Hum Genet. 2002. PMID: 11709755 Free PMC article.

3

No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk.

de Jong MM, Hofstra RM, Kooi KA, Westra JL, Berends MJ, Wu Y, Hollema H, van der Sluis T, van der Graaf WT, de Vries EG, Schaapveld M, Sijmons RH, te Meerman GJ, Kleibeuker JH. de Jong MM, et al. Among authors: hofstra rm. Cancer Genet Cytogenet. 2004 Jul 1;152(1):70-1. doi: 10.1016/j.cancergencyto.2003.10.008. Cancer Genet Cytogenet. 2004. PMID: 15193445

4

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

5

Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.

Ou J, Niessen RC, Lützen A, Sijmons RH, Kleibeuker JH, de Wind N, Rasmussen LJ, Hofstra RM. Ou J, et al. Among authors: hofstra rm. Hum Mutat. 2007 Nov;28(11):1047-54. doi: 10.1002/humu.20580. Hum Mutat. 2007. PMID: 17594722 Review.

6

A database to support the interpretation of human mismatch repair gene variants.

Ou J, Niessen RC, Vonk J, Westers H, Hofstra RM, Sijmons RH. Ou J, et al. Among authors: hofstra rm. Hum Mutat. 2008 Nov;29(11):1337-41. doi: 10.1002/humu.20907. Hum Mutat. 2008. PMID: 18951442

7

Cell-free assay breakthrough for MLH1 variants.

Hofstra RM, Sijmons RH. Hofstra RM, et al. Hum Mutat. 2010 Mar;31(3):v. doi: 10.1002/humu.21217. Hum Mutat. 2010. PMID: 20162719 No abstract available.

8

High frequency of RPL22 mutations in microsatellite-unstable colorectal and endometrial tumors.

Ferreira AM, Tuominen I, van Dijk-Bos K, Sanjabi B, van der Sluis T, van der Zee AG, Hollema H, Zazula M, Sijmons RH, Aaltonen LA, Westers H, Hofstra RM. Ferreira AM, et al. Among authors: hofstra rm. Hum Mutat. 2014 Dec;35(12):1442-5. doi: 10.1002/humu.22686. Hum Mutat. 2014. PMID: 25196364

9

New target genes in endometrial tumors show a role for the estrogen-receptor pathway in microsatellite-unstable cancers.

Ferreira AM, Tuominen I, Sousa S, Gerbens F, van Dijk-Bos K, Osinga J, Kooi KA, Sanjabi B, Esendam C, Oliveira C, Terpstra P, Hardonk M, van der Sluis T, Zazula M, Stachura J, van der Zee AG, Hollema H, Sijmons RH, Aaltonen LA, Seruca R, Hofstra RM, Westers H. Ferreira AM, et al. Among authors: hofstra rm. Hum Mutat. 2014 Dec;35(12):1514-23. doi: 10.1002/humu.22700. Hum Mutat. 2014. PMID: 25231886

10

Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.

Wu Y, Berends MJ, Mensink RG, Kempinga C, Sijmons RH, van Der Zee AG, Hollema H, Kleibeuker JH, Buys CH, Hofstra RM. Wu Y, et al. Among authors: hofstra rm. Am J Hum Genet. 1999 Nov;65(5):1291-8. doi: 10.1086/302612. Am J Hum Genet. 1999. PMID: 10521294 Free PMC article.

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