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Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.
Sieber OM, Segditsas S, Knudsen AL, Zhang J, Luz J, Rowan AJ, Spain SL, Thirlwell C, Howarth KM, Jaeger EE, Robinson J, Volikos E, Silver A, Kelly G, Aretz S, Frayling I, Hutter P, Dunlop M, Guenther T, Neale K, Phillips R, Heinimann K, Tomlinson IP. Sieber OM, et al. Among authors: robinson j. Gut. 2006 Oct;55(10):1440-8. doi: 10.1136/gut.2005.087106. Epub 2006 Feb 4. Gut. 2006. PMID: 16461775 Free PMC article.
Osteogenic tumours in Lkb1-deficient mice.
Robinson J, Nye E, Stamp G, Silver A. Robinson J, et al. Exp Mol Pathol. 2008 Dec;85(3):223-6. doi: 10.1016/j.yexmp.2008.07.005. Epub 2008 Aug 9. Exp Mol Pathol. 2008. PMID: 18761009
LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome.
Volikos E, Robinson J, Aittomäki K, Mecklin JP, Järvinen H, Westerman AM, de Rooji FW, Vogel T, Moeslein G, Launonen V, Tomlinson IP, Silver AR, Aaltonen LA. Volikos E, et al. Among authors: robinson j. J Med Genet. 2006 May;43(5):e18. doi: 10.1136/jmg.2005.039875. J Med Genet. 2006. PMID: 16648371 Free PMC article.
Unregulated smooth-muscle myosin in human intestinal neoplasia.
Alhopuro P, Phichith D, Tuupanen S, Sammalkorpi H, Nybondas M, Saharinen J, Robinson JP, Yang Z, Chen LQ, Orntoft T, Mecklin JP, Järvinen H, Eng C, Moeslein G, Shibata D, Houlston RS, Lucassen A, Tomlinson IP, Launonen V, Ristimäki A, Arango D, Karhu A, Sweeney HL, Aaltonen LA. Alhopuro P, et al. Among authors: robinson jp. Proc Natl Acad Sci U S A. 2008 Apr 8;105(14):5513-8. doi: 10.1073/pnas.0801213105. Epub 2008 Apr 7. Proc Natl Acad Sci U S A. 2008. PMID: 18391202 Free PMC article.
The C/C-13910 genotype of adult-type hypolactasia is associated with an increased risk of colorectal cancer in the Finnish population.
Rasinperä H, Forsblom C, Enattah NS, Halonen P, Salo K, Victorzon M, Mecklin JP, Järvinen H, Enholm S, Sellick G, Alazzouzi H, Houlston R, Robinson J, Groop PH, Tomlinson I, Schwartz S Jr, Aaltonen LA, Järvelä I; FinnDiane Study Group. Rasinperä H, et al. Among authors: robinson j. Gut. 2005 May;54(5):643-7. doi: 10.1136/gut.2004.055939. Gut. 2005. PMID: 15831909 Free PMC article.
9,960 results