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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: tops cm. Hum Mutat. 2016 Nov;37(11):1162-1179. doi: 10.1002/humu.23052. Epub 2016 Aug 21. Hum Mutat. 2016. PMID: 27435373
Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5;10)(q22;q25) responsible for familial adenomatous polyposis in a Dutch pedigree.
van der Luijt RB, Tops CM, Khan PM, van der Klift HM, Breukel C, van Leeuwen-Cornelisse IS, Dauwerse HG, Beverstock GC, van Noort E, Snel P, et al. van der Luijt RB, et al. Among authors: tops cm. Genes Chromosomes Cancer. 1995 Jul;13(3):192-202. doi: 10.1002/gcc.2870130309. Genes Chromosomes Cancer. 1995. PMID: 7669739
Non-allelic heterogeneity of familial adenomatous polyposis.
Tops CM, van der Klift HM, van der Luijt RB, Griffioen G, Taal BG, Vasen HF, Khan PM. Tops CM, et al. Am J Med Genet. 1993 Sep 15;47(4):563-7. doi: 10.1002/ajmg.1320470425. Am J Med Genet. 1993. PMID: 8256823
Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis.
van der Luijt RB, Khan PM, Vasen HF, Tops CM, van Leeuwen-Cornelisse IS, Wijnen JT, van der Klift HM, Plug RJ, Griffioen G, Fodde R. van der Luijt RB, et al. Among authors: tops cm. Hum Mutat. 1997;9(1):7-16. doi: 10.1002/(SICI)1098-1004(1997)9:1<7::AID-HUMU2>3.0.CO;2-8. Hum Mutat. 1997. PMID: 8990002
110 results