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Items: 1 to 20 of 897

1.

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
2.

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
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.

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
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.

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.

7.

Mutation analysis of the APC gene in Taiwanese FAP families: low incidence of APC germline mutation in a distinct subgroup of FAP families.

Chiang JM, Chen HW, Tang RP, Chen JS, Changchien CR, Hsieh PS, Wang JY.

Fam Cancer. 2010 Jun;9(2):117-24. doi: 10.1007/s10689-009-9292-2. Epub 2009 Sep 19.

PMID:
19768578
8.

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
9.

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
10.

Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families.

Friedl W, Caspari R, Sengteller M, Uhlhaas S, Lamberti C, Jungck M, Kadmon M, Wolf M, Fahnenstich J, Gebert J, Möslein G, Mangold E, Propping P.

Gut. 2001 Apr;48(4):515-21.

11.

Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

Gómez-Fernández N, Castellví-Bel S, Fernández-Rozadilla C, Balaguer F, Muñoz J, Madrigal I, Milà M, Graña B, Vega A, Castells A, Carracedo A, Ruiz-Ponte C.

BMC Med Genet. 2009 Jun 16;10:57. doi: 10.1186/1471-2350-10-57.

12.

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.

13.

Relative role of APC and MUTYH mutations in the pathogenesis of familial adenomatous polyposis.

Pezzi A, Roncucci L, Benatti P, Sassatelli R, Varesco L, Di Gregorio C, Venesio T, Pedroni M, Maffei S, Reggiani Bonetti L, Borsi E, Ferrari M, Martella P, Rossi G, Ponz De Leon M.

Scand J Gastroenterol. 2009;44(9):1092-100. doi: 10.1080/00365520903100481.

PMID:
19593690
14.
15.

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
16.

Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study.

Balaguer F, Castellví-Bel S, Castells A, Andreu M, Muñoz J, Gisbert JP, Llor X, Jover R, de Cid R, Gonzalo V, Bessa X, Xicola RM, Pons E, Alenda C, Payá A, Piqué JM; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association.

Clin Gastroenterol Hepatol. 2007 Mar;5(3):379-87.

PMID:
17368238
17.

Germline hypermethylation of the APC promoter is not a frequent cause of familial adenomatous polyposis in APC/MUTYH mutation negative families.

Romero-Giménez J, Dopeso H, Blanco I, Guerra-Moreno A, Gonzalez S, Vogt S, Aretz S, Schwartz S Jr, Capella G, Arango D.

Int J Cancer. 2008 Mar 15;122(6):1422-5.

18.

Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization.

Kanter-Smoler G, Björk J, Fritzell K, Engwall Y, Hallberg B, Karlsson G, Grönberg H, Karlsson P, Wallgren A, Wahlström J, Hultcrantz R, Nordling M.

Clin Gastroenterol Hepatol. 2006 Apr;4(4):499-506.

PMID:
16616356
19.

Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer.

Wasielewski M, Out AA, Vermeulen J, Nielsen M, van den Ouweland A, Tops CM, Wijnen JT, Vasen HF, Weiss MM, Klijn JG, Devilee P, Hes FJ, Schutte M.

Breast Cancer Res Treat. 2010 Dec;124(3):635-41. doi: 10.1007/s10549-010-0801-7. Epub 2010 Feb 27.

PMID:
20191381
20.

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