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Items: 11

1.

Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.

Papp J, Kovacs ME, Matrai Z, Orosz E, Kásler M, Børresen-Dale AL, Olah E.

Fam Cancer. 2016 Jan;15(1):85-97. doi: 10.1007/s10689-015-9845-5.

2.

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology.

Am J Gastroenterol. 2015 Feb;110(2):223-62; quiz 263. doi: 10.1038/ajg.2014.435. Epub 2015 Feb 3. Review.

3.

Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis.

Hes FJ, Ruano D, Nieuwenhuis M, Tops CM, Schrumpf M, Nielsen M, Huijts PE, Wijnen JT, Wagner A, Gómez García EB, Sijmons RH, Menko FH, Letteboer TG, Hoogerbrugge N, Harryvan J, Kampman E, Morreau H, Vasen HF, van Wezel T.

J Med Genet. 2014 Jan;51(1):55-60. doi: 10.1136/jmedgenet-2013-102000. Epub 2013 Nov 19.

4.

Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.

Torrezan GT, da Silva FC, Santos EM, Krepischi AC, Achatz MI, Aguiar S Jr, Rossi BM, Carraro DM.

Orphanet J Rare Dis. 2013 Apr 5;8:54. doi: 10.1186/1750-1172-8-54.

5.

MUTYH DNA glycosylase: the rationale for removing undamaged bases from the DNA.

Markkanen E, Dorn J, Hübscher U.

Front Genet. 2013 Feb 28;4:18. doi: 10.3389/fgene.2013.00018. eCollection 2013.

6.

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.

Aretz S, Tricarico R, Papi L, Spier I, Pin E, Horpaopan S, Cordisco EL, Pedroni M, Stienen D, Gentile A, Panza A, Piepoli A, de Leon MP, Friedl W, Viel A, Genuardi M.

Eur J Hum Genet. 2014 Jul;22(7):923-9. doi: 10.1038/ejhg.2012.309. Epub 2013 Jan 30.

7.

MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors.

Venesio T, Balsamo A, D'Agostino VG, Ranzani GN.

Front Oncol. 2012 Aug 2;2:83. doi: 10.3389/fonc.2012.00083. eCollection 2012.

8.

Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas.

Grover S, Kastrinos F, Steyerberg EW, Cook EF, Dewanwala A, Burbidge LA, Wenstrup RJ, Syngal S.

JAMA. 2012 Aug 1;308(5):485-92. doi: 10.1001/jama.2012.8780.

9.

Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: case report.

Torrezan GT, da Silva FC, Krepischi AC, Santos ÉM, Ferreira Fde O, Rossi BM, Carraro DM.

BMC Med Genet. 2011 Sep 30;12:128. doi: 10.1186/1471-2350-12-128.

10.

Hepatocelluar carcinoma associated with attenuated familial adenomatous polyposis: a case report and review of the literature.

Li M, Gerber DA, Koruda M, O'Neil BH.

Clin Colorectal Cancer. 2012 Mar;11(1):77-81. doi: 10.1016/j.clcc.2011.05.007. Epub 2011 Aug 2. Review. No abstract available.

11.

Simplifying the detection of MUTYH mutations by high resolution melting analysis.

López-Villar I, Ayala R, Wesselink J, Morillas JD, López E, Marín JC, Díaz-Tasende J, González S, Robles L, Martínez-López J.

BMC Cancer. 2010 Aug 5;10:408. doi: 10.1186/1471-2407-10-408.

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