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Items: 1 to 20 of 231

1.

Colorectal adenomatous polyposis syndromes: Genetic determinism, clinical presentation and recommendations for care.

Buecher B.

Bull Cancer. 2016 Feb;103(2):199-209. doi: 10.1016/j.bulcan.2015.10.019. Epub 2016 Jan 19. Review.

PMID:
26805944
2.

French experts report on MUTYH-associated polyposis (MAP).

Buecher B, Bonaïti C, Buisine MP, Colas C, Saurin JC.

Fam Cancer. 2012 Sep;11(3):321-8. doi: 10.1007/s10689-012-9511-0.

PMID:
22538434
3.

Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis.

Lejeune S, Guillemot F, Triboulet JP, Cattan S, Mouton C; PAFNORD Group, Porchet N, Manouvrier S, Buisine MP.

Hum Mutat. 2006 Oct;27(10):1064.

PMID:
16941501
4.

Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.

Russell AM, Zhang J, Luz J, Hutter P, Chappuis PO, Berthod CR, Maillet P, Mueller H, Heinimann K.

Int J Cancer. 2006 Apr 15;118(8):1937-40.

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.

Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists.

Mongin C, Coulet F, Lefevre JH, Colas C, Svrcek M, Eyries M, Lahely Y, Fléjou JF, Soubrier F, Parc Y.

Clin Genet. 2012 Jan;81(1):38-46. doi: 10.1111/j.1399-0004.2011.01676.x. Epub 2011 May 4.

PMID:
21476993
7.

Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.

Spier I, Drichel D, Kerick M, Kirfel J, Horpaopan S, Laner A, Holzapfel S, Peters S, Adam R, Zhao B, Becker T, Lifton RP, Perner S, Hoffmann P, Kristiansen G, Timmermann B, Nöthen MM, Holinski-Feder E, Schweiger MR, Aretz S.

J Med Genet. 2016 Mar;53(3):172-9. doi: 10.1136/jmedgenet-2015-103468. Epub 2015 Nov 27.

PMID:
26613750
8.

Clinical characterization and mutation spectrum in Hispanic families with adenomatous polyposis syndromes.

Cruz-Correa M, Diaz-Algorri Y, Mendez V, Vazquez PJ, Lozada ME, Freyre K, Lathroum L, Gonzalez-Pons M, Hernandez-Marrero J, Giardiello F, Rodriguez-Quilichini S.

Fam Cancer. 2013 Sep;12(3):555-62. doi: 10.1007/s10689-013-9617-z.

9.

Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition.

Aceto GM, Fantini F, De Iure S, Di Nicola M, Palka G, Valanzano R, Di Gregorio P, Stigliano V, Genuardi M, Battista P, Cama A, Curia MC.

J Exp Clin Cancer Res. 2015 Oct 28;34:131. doi: 10.1186/s13046-015-0244-4.

10.

Familial risk-colorectal cancer: ESMO Clinical Practice Guidelines.

Balmaña J, Balaguer F, Cervantes A, Arnold D; ESMO Guidelines Working Group.

Ann Oncol. 2013 Oct;24 Suppl 6:vi73-80. doi: 10.1093/annonc/mdt209. Epub 2013 Jun 27. No abstract available.

PMID:
23813931
11.

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
12.

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
13.

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
14.

[Hereditary forms of colorectal adenomatous polyposis].

Kohoutová M, Stekrová J, Sulová M, Zidková K, Kleibl Z, Vandrovcová J, Kebrdlová V, Kotlas J, Jirásek V.

Cas Lek Cesk. 2006;145(6):475-9. Czech.

PMID:
16836001
15.

The first mutations in the MYH gene reported in Moroccan colon cancer patients.

Laarabi FZ, Cherkaoui Jaouad I, Baert-Desurmont S, Ouldim K, Ibrahimi A, Kanouni N, Frebourg T, Sefiani A.

Gene. 2012 Mar 15;496(1):55-8. doi: 10.1016/j.gene.2011.12.024. Epub 2012 Jan 10.

PMID:
22266422
16.

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
17.

Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations.

Vandrovcová J, Stekrová J, Kebrdlová V, Kohoutová M.

Hum Mutat. 2004 Apr;23(4):397.

PMID:
15024739
18.

Familial adenomatous polyposis.

Macrae F, du Sart D, Nasioulas S.

Best Pract Res Clin Gastroenterol. 2009;23(2):197-207. doi: 10.1016/j.bpg.2009.02.010. Review.

PMID:
19414146
19.

Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients.

Ciavarella M, Miccoli S, Prossomariti A, Pippucci T, Bonora E, Buscherini F, Palombo F, Zuntini R, Balbi T, Ceccarelli C, Bazzoli F, Ricciardiello L, Turchetti D, Piazzi G.

Eur J Hum Genet. 2018 Mar;26(3):387-395. doi: 10.1038/s41431-017-0086-y. Epub 2018 Jan 24.

20.

Hereditary Colorectal Cancer Syndromes.

Wells K, Wise PE.

Surg Clin North Am. 2017 Jun;97(3):605-625. doi: 10.1016/j.suc.2017.01.009. Review.

PMID:
28501250

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