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10,993 results

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Page 1
Recurrent and founder mutations in the PMS2 gene.
Tomsic J, Senter L, Liyanarachchi S, Clendenning M, Vaughn CP, Jenkins MA, Hopper JL, Young J, Samowitz W, de la Chapelle A. Tomsic J, et al. Among authors: young j. Clin Genet. 2013 Mar;83(3):238-43. doi: 10.1111/j.1399-0004.2012.01898.x. Epub 2012 Jun 4. Clin Genet. 2013. PMID: 22577899 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: young j. 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.
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: young jp. 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.
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: young jp. 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.
Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?
Clendenning M, Walsh MD, Gelpi JB, Thibodeau SN, Lindor N, Potter JD, Newcomb P, LeMarchand L, Haile R, Gallinger S; Colorectal Cancer Family Registry; Hopper JL, Jenkins MA, Rosty C, Young JP, Buchanan DD. Clendenning M, et al. Fam Cancer. 2013 Sep;12(3):563-6. doi: 10.1007/s10689-012-9597-4. Fam Cancer. 2013. PMID: 23288611 Free PMC article.
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
Rosty C, Clendenning M, Walsh MD, Eriksen SV, Southey MC, Winship IM, Macrae FA, Boussioutas A, Poplawski NK, Parry S, Arnold J, Young JP, Casey G, Haile RW, Gallinger S, Le Marchand L, Newcomb PA, Potter JD, DeRycke M, Lindor NM, Thibodeau SN, Baron JA, Win AK, Hopper JL, Jenkins MA, Buchanan DD; Colon Cancer Family Registry Cohort. Rosty C, et al. Among authors: young jp. BMJ Open. 2016 Feb 19;6(2):e010293. doi: 10.1136/bmjopen-2015-010293. BMJ Open. 2016. PMID: 26895986 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: young jp. 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.
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.
Body mass index in early adulthood and endometrial cancer risk for mismatch repair gene mutation carriers.
Win AK, Dowty JG, Antill YC, English DR, Baron JA, Young JP, Giles GG, Southey MC, Winship I, Lipton L, Parry S, Thibodeau SN, Haile RW, Gallinger S, Le Marchand L, Lindor NM, Newcomb PA, Hopper JL, Jenkins MA. Win AK, et al. Obstet Gynecol. 2011 Apr;117(4):899-905. doi: 10.1097/AOG.0b013e3182110ea3. Obstet Gynecol. 2011. PMID: 21422863 Free PMC article.
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