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Page 1
Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.
Grolleman JE, de Voer RM, Elsayed FA, Nielsen M, Weren RDA, Palles C, Ligtenberg MJL, Vos JR, Ten Broeke SW, de Miranda NFCC, Kuiper RA, Kamping EJ, Jansen EAM, Vink-Börger ME, Popp I, Lang A, Spier I, Hüneburg R, James PA, Li N, Staninova M, Lindsay H, Cockburn D, Spasic-Boskovic O, Clendenning M, Sweet K, Capellá G, Sjursen W, Høberg-Vetti H, Jongmans MC, Neveling K, Geurts van Kessel A, Morreau H, Hes FJ, Sijmons RH, Schackert HK, Ruiz-Ponte C, Dymerska D, Lubinski J, Rivera B, Foulkes WD, Tomlinson IP, Valle L, Buchanan DD, Kenwrick S, Adlard J, Dimovski AJ, Campbell IG, Aretz S, Schindler D, van Wezel T, Hoogerbrugge N, Kuiper RP. Grolleman JE, et al. Among authors: buchanan dd. Cancer Cell. 2019 Feb 11;35(2):256-266.e5. doi: 10.1016/j.ccell.2018.12.011. Cancer Cell. 2019. PMID: 30753826 Free article.
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
Clendenning M, Senter L, Hampel H, Robinson KL, Sun S, Buchanan D, Walsh MD, Nilbert M, Green J, Potter J, Lindblom A, de la Chapelle A. Clendenning M, et al. J Med Genet. 2008 Jun;45(6):340-5. doi: 10.1136/jmg.2007.056150. Epub 2008 Jan 4. J Med Genet. 2008. PMID: 18178629 Free PMC article.
Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysis.
Walsh MD, Buchanan DD, Walters R, Roberts A, Arnold S, McKeone D, Clendenning M, Ruszkiewicz AR, Jenkins MA, Hopper JL, Goldblatt J, George J, Suthers GK, Phillips K, Young GP, Macrae F, Drini M, Woods MO, Parry S, Jass JR, Young JP. Walsh MD, et al. Among authors: buchanan dd. Fam Cancer. 2009;8(4):313-23. doi: 10.1007/s10689-009-9238-8. Epub 2009 Feb 25. Fam Cancer. 2009. PMID: 19241144 Free PMC article.
Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study.
Buchanan DD, Sweet K, Drini M, Jenkins MA, Win AK, Gattas M, Walsh MD, Clendenning M, McKeone D, Walters R, Roberts A, Young A, Hampel H, Hopper JL, Goldblatt J, George J, Suthers GK, Phillips K, Young GP, Chow E, Parry S, Woodall S, Tucker K, Muir A, Field M, Greening S, Gallinger S, Green J, Woods MO, Spaetgens R, de la Chapelle A, Macrae F, Walker NI, Jass JR, Young JP. Buchanan DD, et al. Int J Colorectal Dis. 2010 Jun;25(6):703-12. doi: 10.1007/s00384-010-0907-8. Epub 2010 Mar 6. Int J Colorectal Dis. 2010. PMID: 20213458 Free PMC article.
Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer.
Win AK, Cleary SP, Dowty JG, Baron JA, Young JP, Buchanan DD, Southey MC, Burnett T, Parfrey PS, Green RC, Le Marchand L, Newcomb PA, Haile RW, Lindor NM, Hopper JL, Gallinger S, Jenkins MA. Win AK, et al. Among authors: buchanan dd. Int J Cancer. 2011 Nov 1;129(9):2256-62. doi: 10.1002/ijc.25870. Epub 2011 Apr 8. Int J Cancer. 2011. PMID: 21171015 Free PMC article.
Mutation deep within an intron of MSH2 causes Lynch syndrome.
Clendenning M, Buchanan DD, Walsh MD, Nagler B, Rosty C, Thompson B, Spurdle AB, Hopper JL, Jenkins MA, Young JP. Clendenning M, et al. Among authors: buchanan dd. Fam Cancer. 2011 Jun;10(2):297-301. doi: 10.1007/s10689-011-9427-0. Fam Cancer. 2011. PMID: 21360204 Free PMC article.
Determining the frequency of de novo germline mutations in DNA mismatch repair genes.
Win AK, Jenkins MA, Buchanan DD, Clendenning M, Young JP, Giles GG, Goldblatt J, Leggett BA, Hopper JL, Thibodeau SN, Lindor NM. Win AK, et al. Among authors: buchanan dd. J Med Genet. 2011 Aug;48(8):530-4. doi: 10.1136/jmedgenet-2011-100082. Epub 2011 Jun 2. J Med Genet. 2011. PMID: 21636617 Free PMC article.
Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry.
Walsh MD, Buchanan DD, Pearson SA, Clendenning M, Jenkins MA, Win AK, Walters RJ, Spring KJ, Nagler B, Pavluk E, Arnold ST, Goldblatt J, George J, Suthers GK, Phillips K, Hopper JL, Jass JR, Baron JA, Ahnen DJ, Thibodeau SN, Lindor N, Parry S, Walker NI, Rosty C, Young JP. Walsh MD, et al. Among authors: buchanan dd. Mod Pathol. 2012 May;25(5):722-30. doi: 10.1038/modpathol.2011.209. Epub 2012 Feb 10. Mod Pathol. 2012. PMID: 22322191 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: buchanan dd. 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.
318 results