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Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
van der Klift HM, Tops CM, Bik EC, Boogaard MW, Borgstein AM, Hansson KB, Ausems MG, Gomez Garcia E, Green A, Hes FJ, Izatt L, van Hest LP, Alonso AM, Vriends AH, Wagner A, van Zelst-Stams WA, Vasen HF, Morreau H, Devilee P, Wijnen JT. van der Klift HM, et al. Among authors: tops cm. Hum Mutat. 2010 May;31(5):578-87. doi: 10.1002/humu.21229. Hum Mutat. 2010. PMID: 20186688
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Spier I, Yin X, Richardson M, Pineda M, Laner A, Ritter D, Boyle J, Mur P, Hansen TVO, Shi X, Mahmood K, Plazzer JP, Ognedal E, Nordling M, Farrington SM, Yamamoto G, Baert-Desurmont S, Martins A, Borras E, Tops C, Webb E, Beshay V, Genuardi M, Pesaran T, Capellá G, Tavtigian SV, Latchford A, Frayling IM, Plon SE, Greenblatt M, Macrae FA, Aretz S; InSiGHT-ClinGen Hereditary Colon Cancer/Polyposis Variant Curation Expert Panel. Spier I, et al. Genet Med. 2024 Feb;26(2):100992. doi: 10.1016/j.gim.2023.100992. Epub 2023 Oct 4. Genet Med. 2024. PMID: 37800450 Free article.
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
112 results