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Analysis of somatic molecular changes, clinicopathological features, family history, and germline mutations in colorectal cancer families: evidence for efficient diagnosis of HNPCC and for the existence of distinct groups of non-HNPCC families.
Johnson V, Lipton LR, Cummings C, Eftekhar Sadat AT, Izatt L, Hodgson SV, Talbot IC, Thomas HJ, Silver AJ, Tomlinson IP. Johnson V, et al. Among authors: hodgson sv. J Med Genet. 2005 Oct;42(10):756-62. doi: 10.1136/jmg.2005.031245. Epub 2005 Mar 23. J Med Genet. 2005. PMID: 15788729 Free PMC article.
Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas.
Sieber OM, Lamlum H, Crabtree MD, Rowan AJ, Barclay E, Lipton L, Hodgson S, Thomas HJ, Neale K, Phillips RK, Farrington SM, Dunlop MG, Mueller HJ, Bisgaard ML, Bulow S, Fidalgo P, Albuquerque C, Scarano MI, Bodmer W, Tomlinson IP, Heinimann K. Sieber OM, et al. Proc Natl Acad Sci U S A. 2002 Mar 5;99(5):2954-8. doi: 10.1073/pnas.042699199. Epub 2002 Feb 26. Proc Natl Acad Sci U S A. 2002. PMID: 11867715 Free PMC article.
An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome.
Jaeger EE, Woodford-Richens KL, Lockett M, Rowan AJ, Sawyer EJ, Heinimann K, Rozen P, Murday VA, Whitelaw SC, Ginsberg A, Atkin WS, Lynch HT, Southey MC, Debinski H, Eng C, Bodmer WF, Talbot IC, Hodgson SV, Thomas HJ, Tomlinson IP. Jaeger EE, et al. Among authors: hodgson sv. Am J Hum Genet. 2003 May;72(5):1261-7. doi: 10.1086/375144. Epub 2003 Apr 14. Am J Hum Genet. 2003. PMID: 12696020 Free PMC article.
234 results