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Items: 1 to 20 of 71

1.

Genotype-phenotype correlation in colorectal polyposis.

Newton KF, Mallinson EK, Bowen J, Lalloo F, Clancy T, Hill J, Evans DG.

Clin Genet. 2012 Jun;81(6):521-31. doi: 10.1111/j.1399-0004.2011.01740.x. Epub 2011 Jul 25.

PMID:
21696383
2.

The impact of screening and genetic registration on mortality and colorectal cancer incidence in familial adenomatous polyposis.

Mallinson EK, Newton KF, Bowen J, Lalloo F, Clancy T, Hill J, Evans DG.

Gut. 2010 Oct;59(10):1378-82. doi: 10.1136/gut.2010.212449. Epub 2010 Jul 21.

PMID:
20660077
3.
4.

Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis.

Groves C, Lamlum H, Crabtree M, Williamson J, Taylor C, Bass S, Cuthbert-Heavens D, Hodgson S, Phillips R, Tomlinson I.

Am J Pathol. 2002 Jun;160(6):2055-61.

5.

Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

Kanter-Smoler G, Fritzell K, Rohlin A, Engwall Y, Hallberg B, Bergman A, Meuller J, Grönberg H, Karlsson P, Björk J, Nordling M.

BMC Med. 2008 Apr 24;6:10. doi: 10.1186/1741-7015-6-10.

6.

MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations.

Morak M, Laner A, Bacher U, Keiling C, Holinski-Feder E.

Clin Genet. 2010 Oct;78(4):353-63. doi: 10.1111/j.1399-0004.2010.01478.x.

PMID:
20618354
7.

Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.

Nielsen M, Hes FJ, Nagengast FM, Weiss MM, Mathus-Vliegen EM, Morreau H, Breuning MH, Wijnen JT, Tops CM, Vasen HF.

Clin Genet. 2007 May;71(5):427-33.

PMID:
17489848
9.

Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study.

Rivera B, González S, Sánchez-Tomé E, Blanco I, Mercadillo F, Letón R, Benítez J, Robledo M, Capellá G, Urioste M.

Ann Oncol. 2011 Apr;22(4):903-9. doi: 10.1093/annonc/mdq465. Epub 2010 Oct 5.

PMID:
20924072
10.

Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis.

Bertario L, Russo A, Sala P, Varesco L, Giarola M, Mondini P, Pierotti M, Spinelli P, Radice P; Hereditary Colorectal Tumor Registry.

J Clin Oncol. 2003 May 1;21(9):1698-707.

PMID:
12721244
12.

Genotype-phenotype correlations as a guide in the management of familial adenomatous polyposis.

Nieuwenhuis MH, Mathus-Vliegen LM, Slors FJ, Griffioen G, Nagengast FM, Schouten WR, Kleibeuker JH, Vasen HF.

Clin Gastroenterol Hepatol. 2007 Mar;5(3):374-8.

PMID:
17368237
13.

Family history, surgery, and APC mutation are risk factors for desmoid tumors in familial adenomatous polyposis: an international cohort study.

Nieuwenhuis MH, Lefevre JH, Bülow S, Järvinen H, Bertario L, Kernéis S, Parc Y, Vasen HF.

Dis Colon Rectum. 2011 Oct;54(10):1229-34. doi: 10.1097/DCR.0b013e318227e4e8.

PMID:
21904137
14.

Dominant negative effect of the APC1309 mutation: a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis.

Dihlmann S, Gebert J, Siermann A, Herfarth C, von Knebel Doeberitz M.

Cancer Res. 1999 Apr 15;59(8):1857-60.

15.

Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72.

Nilbert M, Kristoffersson U, Ericsson M, Johannsson O, Rambech E, Mangell P.

BMC Med Genet. 2008 Nov 26;9:101. doi: 10.1186/1471-2350-9-101.

16.

APC, MYH, and the correlation genotype-phenotype in colorectal polyposis.

Lefevre JH, Parc Y, Svrcek M, Kernéis S, Colas C, Shields C, Flejou JF, Parc R, Tiret E.

Ann Surg Oncol. 2009 Apr;16(4):871-7. doi: 10.1245/s10434-008-0297-0. Epub 2009 Jan 24.

PMID:
19169759
17.

APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.

Filipe B, Baltazar C, Albuquerque C, Fragoso S, Lage P, Vitoriano I, Mão de Ferro S, Claro I, Rodrigues P, Fidalgo P, Chaves P, Cravo M, Nobre Leitão C.

Clin Genet. 2009 Sep;76(3):242-55. doi: 10.1111/j.1399-0004.2009.01241.x.

PMID:
19793053
18.

Genotype-phenotype correlations in attenuated adenomatous polyposis coli.

Soravia C, Berk T, Madlensky L, Mitri A, Cheng H, Gallinger S, Cohen Z, Bapat B.

Am J Hum Genet. 1998 Jun;62(6):1290-301.

19.

Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis.

De Rosa M, Galatola M, Borriello S, Duraturo F, Masone S, Izzo P.

Dis Colon Rectum. 2009 Feb;52(2):268-74. doi: 10.1007/DCR.0b013e318197d15c.

PMID:
19279422
20.

Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature.

Nieuwenhuis MH, Vasen HF.

Crit Rev Oncol Hematol. 2007 Feb;61(2):153-61. Epub 2006 Oct 24. Review.

PMID:
17064931

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