Niessen RC - Search Results

1

A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).

Rump P, Niessen RC, Verbruggen KT, Brouwer OF, de Raad M, Hordijk R. Rump P, et al. Among authors: niessen rc. Clin Genet. 2011 Feb;79(2):183-8. doi: 10.1111/j.1399-0004.2010.01449.x. Clin Genet. 2011. PMID: 20507344

2

Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X).

Niessen RC, Jonkman MF, Muis N, Hordijk R, van Essen AJ. Niessen RC, et al. Am J Med Genet A. 2005 Sep 1;137A(3):313-22. doi: 10.1002/ajmg.a.30876. Am J Med Genet A. 2005. PMID: 16092121 Review.

3

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. 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

4

PMS2 involvement in patients suspected of Lynch syndrome.

Niessen RC, Kleibeuker JH, Westers H, Jager PO, Rozeveld D, Bos KK, Boersma-van Ek W, Hollema H, Sijmons RH, Hofstra RM. Niessen RC, et al. Genes Chromosomes Cancer. 2009 Apr;48(4):322-9. doi: 10.1002/gcc.20642. Genes Chromosomes Cancer. 2009. PMID: 19132747

5

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

Herkert JC, Niessen RC, Olderode-Berends MJ, Veenstra-Knol HE, Vos YJ, van der Klift HM, Scheenstra R, Tops CM, Karrenbeld A, Peters FT, Hofstra RM, Kleibeuker JH, Sijmons RH. Herkert JC, et al. Among authors: niessen rc. Eur J Cancer. 2011 May;47(7):965-82. doi: 10.1016/j.ejca.2011.01.013. Epub 2011 Mar 4. Eur J Cancer. 2011. PMID: 21376568 Review.

6

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: niessen rc. Hum Mutat. 2007 Nov;28(11):1047-54. doi: 10.1002/humu.20580. Hum Mutat. 2007. PMID: 17594722 Review.

7

Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome.

Ou J, Rasmussen M, Westers H, Andersen SD, Jager PO, Kooi KA, Niessen RC, Eggen BJ, Nielsen FC, Kleibeuker JH, Sijmons RH, Rasmussen LJ, Hofstra RM. Ou J, et al. Among authors: niessen rc. Genes Chromosomes Cancer. 2009 Apr;48(4):340-50. doi: 10.1002/gcc.20644. Genes Chromosomes Cancer. 2009. PMID: 19156873 Free article.

8

Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations.

Niessen RC, Sijmons RH, Berends MJ, Ou J, Hofstra RM, Kleibeuker JH. Niessen RC, et al. Scand J Gastroenterol Suppl. 2004;(241):70-7. doi: 10.1080/00855920410010915. Scand J Gastroenterol Suppl. 2004. PMID: 15696853 Review.

9

Colorectal cancer and the CHEK2 1100delC mutation.

de Jong MM, Nolte IM, Te Meerman GJ, van der Graaf WT, Mulder MJ, van der Steege G, Bruinenberg M, Schaapveld M, Niessen RC, Berends MJ, Sijmons RH, Hofstra RM, de Vries EG, Kleibeuker JH. de Jong MM, et al. Among authors: niessen rc. Genes Chromosomes Cancer. 2005 Aug;43(4):377-82. doi: 10.1002/gcc.20195. Genes Chromosomes Cancer. 2005. PMID: 15852425

10

Do microsatellite instability profiles really differ between colorectal and endometrial tumors?

Ferreira AM, Westers H, Wu Y, Niessen RC, Olderode-Berends M, van der Sluis T, van der Zee AG, Hollema H, Kleibeuker JH, Sijmons RH, Hofstra RM. Ferreira AM, et al. Among authors: niessen rc. Genes Chromosomes Cancer. 2009 Jul;48(7):552-7. doi: 10.1002/gcc.20664. Genes Chromosomes Cancer. 2009. PMID: 19373783

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