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Page 1
Cancer risks for MLH1 and MSH2 mutation carriers.
Dowty JG, Win AK, Buchanan DD, Lindor NM, Macrae FA, Clendenning M, Antill YC, Thibodeau SN, Casey G, Gallinger S, Marchand LL, Newcomb PA, Haile RW, Young GP, James PA, Giles GG, Gunawardena SR, Leggett BA, Gattas M, Boussioutas A, Ahnen DJ, Baron JA, Parry S, Goldblatt J, Young JP, Hopper JL, Jenkins MA. Dowty JG, et al. Among authors: gunawardena sr. Hum Mutat. 2013 Mar;34(3):490-7. doi: 10.1002/humu.22262. Hum Mutat. 2013. PMID: 23255516 Free PMC article.
Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study.
Win AK, Young JP, Lindor NM, Tucker KM, Ahnen DJ, Young GP, Buchanan DD, Clendenning M, Giles GG, Winship I, Macrae FA, Goldblatt J, Southey MC, Arnold J, Thibodeau SN, Gunawardena SR, Bapat B, Baron JA, Casey G, Gallinger S, Le Marchand L, Newcomb PA, Haile RW, Hopper JL, Jenkins MA. Win AK, et al. Among authors: gunawardena sr. J Clin Oncol. 2012 Mar 20;30(9):958-64. doi: 10.1200/JCO.2011.39.5590. Epub 2012 Feb 13. J Clin Oncol. 2012. PMID: 22331944 Free PMC article.
Identification of Lynch syndrome among patients with colorectal cancer.
Moreira L, Balaguer F, Lindor N, de la Chapelle A, Hampel H, Aaltonen LA, Hopper JL, Le Marchand L, Gallinger S, Newcomb PA, Haile R, Thibodeau SN, Gunawardena S, Jenkins MA, Buchanan DD, Potter JD, Baron JA, Ahnen DJ, Moreno V, Andreu M, Ponz de Leon M, Rustgi AK, Castells A; EPICOLON Consortium. Moreira L, et al. JAMA. 2012 Oct 17;308(15):1555-65. doi: 10.1001/jama.2012.13088. JAMA. 2012. PMID: 23073952 Free PMC article.
Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression.
Clendenning M, Macrae FA, Walsh MD, Walters RJ, Thibodeau SN, Gunawardena SR, Potter JD, Haile RW, Gallinger S; Colorectal Cancer Family Registry; Hopper JL, Jenkins MA, Rosty C, Young JP, Buchanan DD. Clendenning M, et al. Among authors: gunawardena sr. Clin Genet. 2013 Jun;83(6):591-3. doi: 10.1111/cge.12011. Epub 2012 Sep 27. Clin Genet. 2013. PMID: 23017166 Free PMC article. No abstract available.
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS, Gunawardena S, Balcom JR, Pickart AM, Waltman LA, French AJ, McDonnell S, Riska SM, Fogarty ZC, Larson MC, Middha S, Eckloff BW, Asmann YW, Ferber MJ, Haile RW, Gallinger S, Clendenning M, Rosty C, Win AK, Buchanan DD, Hopper JL, Newcomb PA, Le Marchand L, Goode EL, Lindor NM, Thibodeau SN. DeRycke MS, et al. Mol Genet Genomic Med. 2017 Jul 23;5(5):553-569. doi: 10.1002/mgg3.317. eCollection 2017 Sep. Mol Genet Genomic Med. 2017. PMID: 28944238 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.
Identification of novel variants in colorectal cancer families by high-throughput exome sequencing.
DeRycke MS, Gunawardena SR, Middha S, Asmann YW, Schaid DJ, McDonnell SK, Riska SM, Eckloff BW, Cunningham JM, Fridley BL, Serie DJ, Bamlet WR, Cicek MS, Jenkins MA, Duggan DJ, Buchanan D, Clendenning M, Haile RW, Woods MO, Gallinger SN, Casey G, Potter JD, Newcomb PA, Le Marchand L, Lindor NM, Thibodeau SN, Goode EL. DeRycke MS, et al. Among authors: gunawardena sr. Cancer Epidemiol Biomarkers Prev. 2013 Jul;22(7):1239-51. doi: 10.1158/1055-9965.EPI-12-1226. Epub 2013 May 1. Cancer Epidemiol Biomarkers Prev. 2013. PMID: 23637064 Free PMC article.
Mutations of SMAD4 account for both LAPS and Myhre syndromes.
Lindor NM, Gunawardena SR, Thibodeau SN. Lindor NM, et al. Among authors: gunawardena sr. Am J Med Genet A. 2012 Jun;158A(6):1520-1. doi: 10.1002/ajmg.a.35374. Epub 2012 May 14. Am J Med Genet A. 2012. PMID: 22585601 No abstract available.
12 results