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Page 1
Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status.
Oliveira C, Westra JL, Arango D, Ollikainen M, Domingo E, Ferreira A, Velho S, Niessen R, Lagerstedt K, Alhopuro P, Laiho P, Veiga I, Teixeira MR, Ligtenberg M, Kleibeuker JH, Sijmons RH, Plukker JT, Imai K, Lage P, Hamelin R, Albuquerque C, Schwartz S Jr, Lindblom A, Peltomaki P, Yamamoto H, Aaltonen LA, Seruca R, Hofstra RM. Oliveira C, et al. Among authors: peltomaki p. Hum Mol Genet. 2004 Oct 1;13(19):2303-11. doi: 10.1093/hmg/ddh238. Epub 2004 Aug 4. Hum Mol Genet. 2004. PMID: 15294875
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, Lönnqvist KE, Holinski-Feder E, Sutter C, McKinnon W, Duraisamy S, Gerdes AM, Peltomäki P, Kohonen-Ccorish M, Mangold E, Macrae F, Greenblatt M, de la Chapelle A, Nyström M. Raevaara TE, et al. Among authors: peltomaki p. Gastroenterology. 2005 Aug;129(2):537-49. doi: 10.1016/j.gastro.2005.06.005. Gastroenterology. 2005. PMID: 16083711
Lynch syndrome genes.
Peltomäki P. Peltomäki P. Fam Cancer. 2005;4(3):227-32. doi: 10.1007/s10689-004-7993-0. Fam Cancer. 2005. PMID: 16136382 Review.
Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.
Ollila S, Sarantaus L, Kariola R, Chan P, Hampel H, Holinski-Feder E, Macrae F, Kohonen-Corish M, Gerdes AM, Peltomäki P, Mangold E, de la Chapelle A, Greenblatt M, Nyström M. Ollila S, et al. Among authors: peltomaki p. Gastroenterology. 2006 Nov;131(5):1408-17. doi: 10.1053/j.gastro.2006.08.044. Epub 2006 Aug 22. Gastroenterology. 2006. PMID: 17101317
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
Lagerstedt Robinson K, Liu T, Vandrovcova J, Halvarsson B, Clendenning M, Frebourg T, Papadopoulos N, Kinzler KW, Vogelstein B, Peltomäki P, Kolodner RD, Nilbert M, Lindblom A. Lagerstedt Robinson K, et al. Among authors: peltomaki p. J Natl Cancer Inst. 2007 Feb 21;99(4):291-9. doi: 10.1093/jnci/djk051. J Natl Cancer Inst. 2007. PMID: 17312306
Large genomic rearrangements and germline epimutations in Lynch syndrome.
Gylling A, Ridanpää M, Vierimaa O, Aittomäki K, Avela K, Kääriäinen H, Laivuori H, Pöyhönen M, Sallinen SL, Wallgren-Pettersson C, Järvinen HJ, Mecklin JP, Peltomäki P. Gylling A, et al. Among authors: peltomaki p. Int J Cancer. 2009 May 15;124(10):2333-40. doi: 10.1002/ijc.24230. Int J Cancer. 2009. PMID: 19173287
224 results