Mucosectomy with handsewn anastomosis reduces the risk of adenoma formation in the anorectal segment after restorative proctocolectomy for familial adenomatous polyposis
von Roon, Alexander C, Will, Olivia C C, Man, Ripple F, Neale, Kay F, Phillips, Robin K S, Nicholls, R John, Clark, Susan K, Tekkis, Paris P
Published in Annals of surgery (01.02.2011)
Published in Annals of surgery (01.02.2011)
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Journal Article
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
Tomlinson, Ian, Lamlum, Hanan, Ilyas, Mohammad, Rowan, Andrew, Clark, Susan, Johnson, Victoria, Bell, Jennie, Frayling, Ian, Efstathiou, Jason, Pack, Kevin, Payne, Stewart, Roylance, Rebecca, Gorman, Patricia, Sheer, Denise, Neale, Kay, Phillips, Robin, Talbot, Ian, Bodmer, Walter
Published in Nature medicine (01.09.1999)
Published in Nature medicine (01.09.1999)
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Journal Article
Refining the relation between 'first hits' and 'second hits' at the APC locus: the 'loose fit' model and evidence for differences in somatic mutation spectra among patients
CRABTREE, Michael, SIEBER, Oliver M, LIPTON, Lara, HODGSON, Shirley V, LAMLUM, Hanan, THOMAS, Hunu J. W, NEALE, Kay, PHILLIPS, Robin K. S, HEINIMANN, Karl, TOMLINSON, Ian P. M
Published in Oncogene (03.07.2003)
Published in Oncogene (03.07.2003)
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Journal Article
Juvenile Polyposis Syndrome: A Study of Genotype, Phenotype, and Long-term Outcome
Latchford, Andrew R, Neale, Kay, Phillips, Robin K S, Clark, Susan K
Published in Diseases of the colon & rectum (01.10.2012)
Published in Diseases of the colon & rectum (01.10.2012)
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Journal Article
Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes
Zhou, Xiao-Ping, Woodford-Richens, Kelly, Lehtonen, Rainer, Kurose, Keisuke, Aldred, Micheala, Hampel, Heather, Launonen, Virpi, Virta, Sanno, Pilarski, Robert, Salovaara, Reijo, Bodmer, Walter F., Conrad, Beth A., Dunlop, Malcolm, Hodgson, Shirley V., Iwama, Takeo, Järvinen, Heikki, Kellokumpu, Ilmo, Kim, J.C., Leggett, Barbara, Markie, David, Mecklin, Jukka-Pekka, Neale, Kay, Phillips, Robin, Piris, Juan, Rozen, Paul, Houlston, Richard S., Aaltonen, Lauri A., Tomlinson, Ian P.M., Eng, Charis
Published in American journal of human genetics (01.10.2001)
Published in American journal of human genetics (01.10.2001)
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Journal Article
Promoter hypermethylation leads to decreased APC mRNA expression in familial polyposis and sporadic colorectal tumours, but does not substitute for truncating mutations
Segditsas, Stefania, Sieber, Oliver M., Rowan, Andrew, Setien, Fernando, Neale, Kay, Phillips, Robin K.S., Ward, Robyn, Esteller, Manel, Tomlinson, Ian P.M.
Published in Experimental and molecular pathology (01.12.2008)
Published in Experimental and molecular pathology (01.12.2008)
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Journal Article
Mutations and Impaired Function of LKB1 in Familial and Non-Familial Peutz-Jeghers Syndrome and a Sporadic Testicular Cancer
Ylikorkala, Antti, Avizienyte, Egle, Tomlinson, Ian P. M., Tiainen, Marianne, Roth, Stina, Loukola, Anu, Hemminki, Akseli, Johansson, Marie, Sistonen, Pertti, Markie, David, Neale, Kay, Phillips, Robin, Zauber, Peter, Twama, Takeo, Sampson, Julian, Järvinen, Heikki, Mäkelä, Tomi P., Aaltonen, Lauri A.
Published in Human molecular genetics (01.01.1999)
Published in Human molecular genetics (01.01.1999)
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Journal Article
Mutations in DPC4 (SMAD4) Cause Juvenile Polyposis Syndrome, But Only Account for a Minority of Cases
Houlston, Richard, Bevan, Stephen, Williams, Andrew, Young, Joanne, Dunlop, Malcolm, Rozen, Paul, Eng, Charis, Markie, David, Woodford-Richens, Kelly, Rodriguez-Bigas, Miguel A., Leggett, Barbara, Neale, Kay, Phillips, Robin, Sheridan, Eamon, Hodgson, Shirley, Iwama, Takeo, Eccles, Diana, Bodmer, Walter, Tomlinson, Ian
Published in Human molecular genetics (01.11.1998)
Published in Human molecular genetics (01.11.1998)
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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, H J, Neale, K, Hodgson, S, Talbot, I, Houlston, R, Stratton, M R
Published in Gastroenterology (New York, N.Y. 1943) (01.04.1999)
Published in Gastroenterology (New York, N.Y. 1943) (01.04.1999)
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Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3
Olschwang, S, Markie, D, Seal, S, Neale, K, Phillips, R, Cottrell, S, Ellis, I, Hodgson, S, Zauber, P, Spigelman, A, Iwama, T, Loff, S, McKeown, C, Marchese, C, Sampson, J, Davies, S, Talbot, I, Wyke, J, Thomas, G, Bodmer, W, Hemminki, A, Avizienyte, E, de la Chapelle, A, Aaltonen, L, Tomlinson, I
Published in Journal of medical genetics (01.01.1998)
Published in Journal of medical genetics (01.01.1998)
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Journal Article
A survey of phenotypic features in juvenile polyposis
Desai, D C, Murday, V, Phillips, R K, Neale, K F, Milla, P, Hodgson, S V
Published in Journal of medical genetics (01.06.1998)
Published in Journal of medical genetics (01.06.1998)
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Journal Article
Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome
MARSH, D. J, ROTH, S, COTTRELL, S. E, DUNLOP, M. G, ECCLES, D, HODGSON, S. V, JÄRVINEN, H, KELLOKUMPU, I, MARKIE, D, NEALE, K, PHILLIPS, R, ROZEN, P, LUNETTA, K. L, SYNGAL, S, VIJG, J, TOMLINSON, I. P. M, AALTONEN, L. A, ENG, C, HEMMINKI, A, DAHIA, P. L. M, SISTONEN, P, ZHENG, Z, CARON, S, VAN ORSOUW, N. J, BODMER, W. F
Published in Cancer research (Chicago, Ill.) (15.11.1997)
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Published in Cancer research (Chicago, Ill.) (15.11.1997)
Journal Article
Attenuated adenomatous polyposis coli : The role of ascertainment bias through failure to dye-spray at colonoscopy
WALLACE, M. H, FRAYLING, I. M, CLARK, S. K, NEALE, K, PHILLIPS, R. K. S
Published in Diseases of the colon & rectum (01.08.1999)
Published in Diseases of the colon & rectum (01.08.1999)
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Conference Proceeding
Journal Article
Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli
Gayther, S A, Wells, D, SenGupta, S B, Chapman, P, Neale, K, Tsioupra, K, Delhanty, J D
Published in Human molecular genetics (01.01.1994)
Published in Human molecular genetics (01.01.1994)
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