Frayling I - Search Results

1

Guidelines for the clinical management of familial adenomatous polyposis (FAP).

Vasen HF, Möslein G, Alonso A, Aretz S, Bernstein I, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Järvinen H, Mecklin JP, Møller P, Myrhøi T, Nagengast FM, Parc Y, Phillips R, Clark SK, de Leon MP, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen J. Vasen HF, et al. Among authors: frayling i. Gut. 2008 May;57(5):704-13. doi: 10.1136/gut.2007.136127. Epub 2008 Jan 14. Gut. 2008. PMID: 18194984 Free article.

2

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.

Poole RL, Docherty LE, Al Sayegh A, Caliebe A, Turner C, Baple E, Wakeling E, Harrison L, Lehmann A, Temple IK, Mackay DJ; International Clinical Imprinting Consortium. Poole RL, et al. Am J Med Genet A. 2013 Sep;161A(9):2174-82. doi: 10.1002/ajmg.a.36049. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913548

3

Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway.

McRonald FE, Pethick J, Santaniello F, Shand B, Tyson A, Tulloch O, Goel S, Lüchtenborg M, Borthwick GM, Turnbull C, Shaw AC, Monahan KJ, Frayling IM, Hardy S, Burn J. McRonald FE, et al. Among authors: frayling im. Eur J Hum Genet. 2024 May;32(5):529-538. doi: 10.1038/s41431-024-01550-w. Epub 2024 Feb 15. Eur J Hum Genet. 2024. PMID: 38355963 Free PMC article.

4

Frequency of germline hereditary non-polyposis colorectal cancer gene mutations in patients with multiple or early onset colorectal adenomas.

Beck NE, Tomlinson IP, Homfray TF, Frayling IM, Hodgson SV, Bodmer WF. Beck NE, et al. Among authors: frayling im. Gut. 1997 Aug;41(2):235-8. doi: 10.1136/gut.41.2.235. Gut. 1997. PMID: 9301504 Free PMC article.

5

The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.

Frayling IM, Beck NE, Ilyas M, Dove-Edwin I, Goodman P, Pack K, Bell JA, Williams CB, Hodgson SV, Thomas HJ, Talbot IC, Bodmer WF, Tomlinson IP. Frayling IM, et al. Proc Natl Acad Sci U S A. 1998 Sep 1;95(18):10722-7. doi: 10.1073/pnas.95.18.10722. Proc Natl Acad Sci U S A. 1998. PMID: 9724771 Free PMC article.

6

Inherited susceptibility to colorectal adenomas and carcinomas: evidence for a new predisposition gene on 15q14-q22.

Tomlinson I, Rahman N, Frayling I, Mangion J, Barfoot R, Hamoudi R, Seal S, Northover J, Thomas HJ, Neale K, Hodgson S, Talbot I, Houlston R, Stratton MR. Tomlinson I, et al. Among authors: frayling i. Gastroenterology. 1999 Apr;116(4):789-95. doi: 10.1016/s0016-5085(99)70061-2. Gastroenterology. 1999. PMID: 10092300

7

Attenuated adenomatous polyposis coli: the role of ascertainment bias through failure to dye-spray at colonoscopy.

Wallace MH, Frayling IM, Clark SK, Neale K, Phillips RK. Wallace MH, et al. Among authors: frayling im. Dis Colon Rectum. 1999 Aug;42(8):1078-80. doi: 10.1007/BF02236707. Dis Colon Rectum. 1999. PMID: 10458134

8

The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.

Lamlum H, Ilyas M, Rowan A, Clark S, Johnson V, Bell J, Frayling I, Efstathiou J, Pack K, Payne S, Roylance R, Gorman P, Sheer D, Neale K, Phillips R, Talbot I, Bodmer W, Tomlinson I. Lamlum H, et al. Among authors: frayling i. Nat Med. 1999 Sep;5(9):1071-5. doi: 10.1038/12511. Nat Med. 1999. PMID: 10470088

9

Desmoids in familial adenomatous polyposis are monoclonal proliferations.

Middleton SB, Frayling IM, Phillips RK. Middleton SB, et al. Among authors: frayling im. Br J Cancer. 2000 Feb;82(4):827-32. doi: 10.1054/bjoc.1999.1007. Br J Cancer. 2000. PMID: 10732754 Free PMC article.

10

Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.

Sampson JR, Dolwani S, Jones S, Eccles D, Ellis A, Evans DG, Frayling I, Jordan S, Maher ER, Mak T, Maynard J, Pigatto F, Shaw J, Cheadle JP. Sampson JR, et al. Among authors: frayling i. Lancet. 2003 Jul 5;362(9377):39-41. doi: 10.1016/S0140-6736(03)13805-6. Lancet. 2003. PMID: 12853198

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