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Juvenile polyposis.
Desai DC, Neale KF, Talbot IC, Hodgson SV, Phillips RK. Desai DC, et al. Among authors: neale kf. Br J Surg. 1995 Jan;82(1):14-7. doi: 10.1002/bjs.1800820106. Br J Surg. 1995. PMID: 7881943 Review.
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.
Houlston R, Bevan S, Williams A, Young J, Dunlop M, Rozen P, Eng C, Markie D, Woodford-Richens K, Rodriguez-Bigas MA, Leggett B, Neale K, Phillips R, Sheridan E, Hodgson S, Iwama T, Eccles D, Bodmer W, Tomlinson I. Houlston R, et al. Among authors: neale k. Hum Mol Genet. 1998 Nov;7(12):1907-12. doi: 10.1093/hmg/7.12.1907. Hum Mol Genet. 1998. PMID: 9811934
Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.
Woodford-Richens K, Bevan S, Churchman M, Dowling B, Jones D, Norbury CG, Hodgson SV, Desai D, Neale K, Phillips RK, Young J, Leggett B, Dunlop M, Rozen P, Eng C, Markie D, Rodriguez-Bigas MA, Sheridan E, Iwama T, Eccles D, Smith GT, Kim JC, Kim KM, Sampson JR, Evans G, Tejpar S, Bodmer WF, Tomlinson IP, Houlston RS. Woodford-Richens K, et al. Among authors: neale k. Gut. 2000 May;46(5):656-60. doi: 10.1136/gut.46.5.656. Gut. 2000. PMID: 10764709 Free PMC article.
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: neale k. Gut. 2006 Oct;55(10):1440-8. doi: 10.1136/gut.2005.087106. Epub 2006 Feb 4. Gut. 2006. PMID: 16461775 Free PMC article.
74 results