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Germline PTEN mutations in Cowden syndrome-like families.
Marsh DJ, Dahia PL, Caron S, Kum JB, Frayling IM, Tomlinson IP, Hughes KS, Eeles RA, Hodgson SV, Murday VA, Houlston R, Eng C. Marsh DJ, et al. Among authors: frayling im. J Med Genet. 1998 Nov;35(11):881-5. doi: 10.1136/jmg.35.11.881. J Med Genet. 1998. PMID: 9832031 Free PMC article.
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: frayling i. Cancer Res. 2000 May 1;60(9):2477-82. Cancer Res. 2000. PMID: 10811127
Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.
Lamlum H, Al Tassan N, Jaeger E, Frayling I, Sieber O, Reza FB, Eckert M, Rowan A, Barclay E, Atkin W, Williams C, Gilbert J, Cheadle J, Bell J, Houlston R, Bodmer W, Sampson J, Tomlinson I. Lamlum H, et al. Among authors: frayling i. Hum Mol Genet. 2000 Sep 22;9(15):2215-21. doi: 10.1093/oxfordjournals.hmg.a018912. Hum Mol Genet. 2000. PMID: 11001924
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: frayling i. Gut. 2006 Oct;55(10):1440-8. doi: 10.1136/gut.2005.087106. Epub 2006 Feb 4. Gut. 2006. PMID: 16461775 Free PMC article.
Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.
Dallosso AR, Dolwani S, Jones N, Jones S, Colley J, Maynard J, Idziaszczyk S, Humphreys V, Arnold J, Donaldson A, Eccles D, Ellis A, Evans DG, Frayling IM, Hes FJ, Houlston RS, Maher ER, Nielsen M, Parry S, Tyler E, Moskvina V, Cheadle JP, Sampson JR. Dallosso AR, et al. Among authors: frayling im. Gut. 2008 Sep;57(9):1252-5. doi: 10.1136/gut.2007.145748. Epub 2008 May 30. Gut. 2008. PMID: 18515411
95 results