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114 results

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Page 1
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles C, West HD, Chew E, Galavotti S, Flensburg C, Grolleman JE, Jansen EAM, Curley H, Chegwidden L, Arbe-Barnes EH, Lander N, Truscott R, Pagan J, Bajel A, Sherwood K, Martin L, Thomas H, Georgiou D, Fostira F, Goldberg Y, Adams DJ, van der Biezen SAM, Christie M, Clendenning M, Thomas LE, Deltas C, Dimovski AJ, Dymerska D, Lubinski J, Mahmood K, van der Post RS, Sanders M, Weitz J, Taylor JC, Turnbull C, Vreede L, van Wezel T, Whalley C, Arnedo-Pac C, Caravagna G, Cross W, Chubb D, Frangou A, Gruber AJ, Kinnersley B, Noyvert B, Church D, Graham T, Houlston R, Lopez-Bigas N, Sottoriva A, Wedge D; Genomics England Research Consortium; CORGI Consortium; WGS500 Consortium; Jenkins MA, Kuiper RP, Roberts AW, Cheadle JP, Ligtenberg MJL, Hoogerbrugge N, Koelzer VH, Rivas AD, Winship IM, Ponte CR, Buchanan DD, Power DG, Green A, Tomlinson IPM, Sampson JR, Majewski IJ, de Voer RM. Palles C, et al. Among authors: clendenning m. Am J Hum Genet. 2022 May 5;109(5):953-960. doi: 10.1016/j.ajhg.2022.03.018. Epub 2022 Apr 22. Am J Hum Genet. 2022. PMID: 35460607 Free PMC 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.
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, Lindblom A, Lagerstedt K, Thibodeau SN, Lindor NM, Young J, Winship I, Dowty JG, White DM, Hopper JL, Baglietto L, Jenkins MA, de la Chapelle A. Senter L, et al. Among authors: clendenning m. Gastroenterology. 2008 Aug;135(2):419-28. doi: 10.1053/j.gastro.2008.04.026. Epub 2008 May 2. Gastroenterology. 2008. PMID: 18602922 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: clendenning m. 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.
Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry.
Walsh MD, Buchanan DD, Cummings MC, Pearson SA, Arnold ST, Clendenning M, Walters R, McKeone DM, Spurdle AB, Hopper JL, Jenkins MA, Phillips KD, Suthers GK, George J, Goldblatt J, Muir A, Tucker K, Pelzer E, Gattas MR, Woodall S, Parry S, Macrae FA, Haile RW, Baron JA, Potter JD, Le Marchand L, Bapat B, Thibodeau SN, Lindor NM, McGuckin MA, Young JP. Walsh MD, et al. Among authors: clendenning m. Clin Cancer Res. 2010 Apr 1;16(7):2214-24. doi: 10.1158/1078-0432.CCR-09-3058. Epub 2010 Mar 9. Clin Cancer Res. 2010. PMID: 20215533 Free PMC article.
Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome).
Roberts A, Nancarrow D, Clendenning M, Buchanan DD, Jenkins MA, Duggan D, Taverna D, McKeone D, Walters R, Walsh MD, Young BW, Jass JR, Rosty C, Gattas M, Pelzer E, Hopper JL, Goldblatt J, George J, Suthers GK, Phillips K, Parry S, Woodall S, Arnold J, Tucker K, Muir A, Drini M, Macrae F, Newcomb P, Potter JD, Pavluk E, Lindblom A, Young JP. Roberts A, et al. Among authors: clendenning m. Fam Cancer. 2011 Jun;10(2):245-54. doi: 10.1007/s10689-010-9408-8. Fam Cancer. 2011. PMID: 21165777 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. 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: clendenning m. 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: clendenning m. 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: clendenning m. 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.
114 results