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Page 1
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.
Domingo E, Laiho P, Ollikainen M, Pinto M, Wang L, French AJ, Westra J, Frebourg T, Espín E, Armengol M, Hamelin R, Yamamoto H, Hofstra RM, Seruca R, Lindblom A, Peltomäki P, Thibodeau SN, Aaltonen LA, Schwartz S Jr. Domingo E, et al. Among authors: hofstra rm. J Med Genet. 2004 Sep;41(9):664-8. doi: 10.1136/jmg.2004.020651. J Med Genet. 2004. PMID: 15342696 Free PMC article.
High EPHB2 mutation rate in gastric but not endometrial tumors with microsatellite instability.
Davalos V, Dopeso H, Velho S, Ferreira AM, Cirnes L, Díaz-Chico N, Bilbao C, Ramírez R, Rodríguez G, Falcón O, León L, Niessen RC, Keller G, Dallenbach-Hellweg G, Espín E, Armengol M, Plaja A, Perucho M, Imai K, Yamamoto H, Gebert JF, Díaz-Chico JC, Hofstra RM, Woerner SM, Seruca R, Schwartz S Jr, Arango D. Davalos V, et al. Among authors: hofstra rm. Oncogene. 2007 Jan 11;26(2):308-11. doi: 10.1038/sj.onc.1209780. Epub 2006 Jul 3. Oncogene. 2007. PMID: 16819508
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: hofstra rm. 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
Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours.
Velho S, Oliveira C, Paredes J, Sousa S, Leite M, Matos P, Milanezi F, Ribeiro AS, Mendes N, Licastro D, Karhu A, Oliveira MJ, Ligtenberg M, Hamelin R, Carneiro F, Lindblom A, Peltomaki P, Castedo S, Schwartz S Jr, Jordan P, Aaltonen LA, Hofstra RM, Suriano G, Stupka E, Fialho AM, Seruca R. Velho S, et al. Among authors: hofstra rm. Hum Mol Genet. 2010 Feb 15;19(4):697-706. doi: 10.1093/hmg/ddp536. Epub 2009 Dec 2. Hum Mol Genet. 2010. PMID: 19955118 Free PMC article.
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
287 results