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Items: 1 to 20 of 391

1.

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
2.

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
3.

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
4.

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
5.

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
6.

Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations.

Thirlwell C, Howarth KM, Segditsas S, Guerra G, Thomas HJ, Phillips RK, Talbot IC, Gorman M, Novelli MR, Sieber OM, Tomlinson IP.

Br J Cancer. 2007 Jun 4;96(11):1729-34. Epub 2007 May 15.

7.

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.

8.

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.

9.

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
10.

High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis.

Venesio T, Molatore S, Cattaneo F, Arrigoni A, Risio M, Ranzani GN.

Gastroenterology. 2004 Jun;126(7):1681-5.

PMID:
15188161
11.

Analysis of K-ras, APC, and beta-catenin in aberrant crypt foci in sporadic adenoma, cancer, and familial adenomatous polyposis.

Takayama T, Ohi M, Hayashi T, Miyanishi K, Nobuoka A, Nakajima T, Satoh T, Takimoto R, Kato J, Sakamaki S, Niitsu Y.

Gastroenterology. 2001 Sep;121(3):599-611.

PMID:
11522744
12.

APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.

Andresen PA, Heimdal K, Aaberg K, Eklo K, Ariansen S, Silye A, Fausa O, Aabakken L, Aretz S, Eide TJ, Gedde-Dahl T Jr.

J Cancer Res Clin Oncol. 2009 Oct;135(10):1463-70. doi: 10.1007/s00432-009-0594-4. Epub 2009 May 15. Erratum in: J Cancer Res Clin Oncol. 2009 Oct;135(10):1471. Eklo, Kristin [corrected to Eklo, Katrine].

PMID:
19444466
13.

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
14.

Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients.

Fostira F, Thodi G, Sandaltzopoulos R, Fountzilas G, Yannoukakos D.

BMC Cancer. 2010 Jul 22;10:389. doi: 10.1186/1471-2407-10-389.

15.

Clinical and molecular features of attenuated adenomatous polyposis in northern Italy.

de Leon MP, Urso ED, Pucciarelli S, Agostini M, Nitti D, Roncucci L, Benatti P, Pedroni M, Kaleci S, Balsamo A, Laudi C, Di Gregorio C, Viel A, Rossi G, Venesio T.

Tech Coloproctol. 2013 Feb;17(1):79-87. doi: 10.1007/s10151-012-0887-5. Epub 2012 Sep 14.

PMID:
22976915
16.

APC haploinsufficiency, but not CTNNB1 or CDH1 gene mutations, accounts for a fraction of familial adenomatous polyposis patients without APC truncating mutations.

Venesio T, Balsamo A, Rondo-Spaudo M, Varesco L, Risio M, Ranzani GN.

Lab Invest. 2003 Dec;83(12):1859-66.

PMID:
14691304
17.

Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients.

Marabelli M, Molinaro V, Khouzam RA, Berrino E, Panero M, Balsamo A, Venesio T, Ranzani GN.

Genet Test Mol Biomarkers. 2016 Dec;20(12):777-785. doi: 10.1089/gtmb.2016.0198. Epub 2016 Oct 5.

PMID:
27705013
19.

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):485-492. doi: 10.1001/jama.2012.8780.

20.

Novel germline APC mutations in Swedish patients with familial adenomatous polyposis and Gardner syndrome.

Nilbert M, Fernebro J, Kristoffersson U.

Scand J Gastroenterol. 2000 Nov;35(11):1200-3.

PMID:
11145293

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