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Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
van der Klift HM, Mensenkamp AR, Drost M, Bik EC, Vos YJ, Gille HJ, Redeker BE, Tiersma Y, Zonneveld JB, García EG, Letteboer TG, Olderode-Berends MJ, van Hest LP, van Os TA, Verhoef S, Wagner A, van Asperen CJ, Ten Broeke SW, Hes FJ, de Wind N, Nielsen M, Devilee P, Ligtenberg MJ, Wijnen JT, Tops CM. van der Klift HM, et al. Among authors: nielsen m. Hum Mutat. 2016 Nov;37(11):1162-1179. doi: 10.1002/humu.23052. Epub 2016 Aug 21. Hum Mutat. 2016. PMID: 27435373
Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).
Nielsen M, Franken PF, Reinards TH, Weiss MM, Wagner A, van der Klift H, Kloosterman S, Houwing-Duistermaat JJ, Aalfs CM, Ausems MG, Bröcker-Vriends AH, Gomez Garcia EB, Hoogerbrugge N, Menko FH, Sijmons RH, Verhoef S, Kuipers EJ, Morreau H, Breuning MH, Tops CM, Wijnen JT, Vasen HF, Fodde R, Hes FJ. Nielsen M, et al. J Med Genet. 2005 Sep;42(9):e54. doi: 10.1136/jmg.2005.033217. J Med Genet. 2005. PMID: 16140997 Free PMC article.
Duodenal carcinoma in MUTYH-associated polyposis.
Nielsen M, Poley JW, Verhoef S, van Puijenbroek M, Weiss MM, Burger GT, Dommering CJ, Vasen HF, Kuipers EJ, Wagner A, Morreau H, Hes FJ. Nielsen M, et al. J Clin Pathol. 2006 Nov;59(11):1212-5. doi: 10.1136/jcp.2005.031757. Epub 2006 Aug 30. J Clin Pathol. 2006. PMID: 16943222 Free PMC article.
The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family.
van Puijenbroek M, Nielsen M, Reinards TH, Weiss MM, Wagner A, Hendriks YM, Vasen HF, Tops CM, Wijnen J, van Wezel T, Hes FJ, Morreau H. van Puijenbroek M, et al. Among authors: nielsen m. Fam Cancer. 2007;6(1):43-51. doi: 10.1007/s10689-006-9103-y. Fam Cancer. 2007. PMID: 17039270
Somatic APC mosaicism: an underestimated cause of polyposis coli.
Hes FJ, Nielsen M, Bik EC, Konvalinka D, Wijnen JT, Bakker E, Vasen HF, Breuning MH, Tops CM. Hes FJ, et al. Among authors: nielsen m. Gut. 2008 Jan;57(1):71-6. doi: 10.1136/gut.2006.117796. Epub 2007 Jun 29. Gut. 2008. PMID: 17604324
4,661 results