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Page 1
Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers.
Woodford-Richens KL, Rowan AJ, Poulsom R, Bevan S, Salovaara R, Aaltonen LA, Houlston RS, Wright NA, Tomlinson IP. Woodford-Richens KL, et al. Among authors: bevan s. Am J Pathol. 2001 Oct;159(4):1293-300. doi: 10.1016/S0002-9440(10)62516-3. Am J Pathol. 2001. PMID: 11583957 Free PMC article.
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: bevan s. Hum Mol Genet. 1998 Nov;7(12):1907-12. doi: 10.1093/hmg/7.12.1907. Hum Mol Genet. 1998. PMID: 9811934
Allelic loss at SMAD4 in polyps from juvenile polyposis patients and use of fluorescence in situ hybridization to demonstrate clonal origin of the epithelium.
Woodford-Richens K, Williamson J, Bevan S, Young J, Leggett B, Frayling I, Thway Y, Hodgson S, Kim JC, Iwama T, Novelli M, Sheer D, Poulsom R, Wright N, Houlston R, Tomlinson I. Woodford-Richens K, et al. Among authors: bevan s. Cancer Res. 2000 May 1;60(9):2477-82. Cancer Res. 2000. PMID: 10811127
Mutations in the SMAD4/DPC4 gene in juvenile polyposis.
Howe JR, Roth S, Ringold JC, Summers RW, Järvinen HJ, Sistonen P, Tomlinson IP, Houlston RS, Bevan S, Mitros FA, Stone EM, Aaltonen LA. Howe JR, et al. Among authors: bevan s. Science. 1998 May 15;280(5366):1086-8. doi: 10.1126/science.280.5366.1086. Science. 1998. PMID: 9582123
Genetic predisposition to gastric cancer.
Bevan S, Houlston RS. Bevan S, et al. QJM. 1999 Jan;92(1):5-10. doi: 10.1093/qjmed/92.1.5. QJM. 1999. PMID: 10209666 Review. No abstract available.
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: bevan s. Gut. 2000 May;46(5):656-60. doi: 10.1136/gut.46.5.656. Gut. 2000. PMID: 10764709 Free PMC article.
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomäki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA; Multiple Leiomyoma Consortium. Tomlinson IP, et al. Among authors: bevan s. Nat Genet. 2002 Apr;30(4):406-10. doi: 10.1038/ng849. Epub 2002 Feb 25. Nat Genet. 2002. PMID: 11865300
384 results