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Items: 1 to 20 of 145

1.

An in-frame exon-skipping MUTYH mutation is associated with early-onset colorectal cancer.

Fostira F, Papademitriou C, Efremidis A, Yannoukakos D.

Dis Colon Rectum. 2010 Aug;53(8):1197-201. doi: 10.1007/DCR.0b013e3181dcf0c1.

PMID:
20628285
2.

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
3.

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
4.

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.

5.

First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes.

Morak M, Massdorf T, Sykora H, Kerscher M, Holinski-Feder E.

Eur J Cancer. 2011 May;47(7):1046-55. doi: 10.1016/j.ejca.2010.11.016. Epub 2010 Dec 30.

PMID:
21195604
6.

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
7.

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
8.

[Inherited mutations of MUTYH and colorectal cancer].

Zhou HH.

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2007 Jul;36(4):406-11. Review. Chinese.

PMID:
17717836
9.

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
10.

[From gene to disease; MutYH-associated polyposis coli (MAP)].

Nielsen M, Weiss MM, Vasen HF, Hes FJ.

Ned Tijdschr Geneeskd. 2005 Dec 31;149(53):2970-2. Review. Dutch.

PMID:
16425850
11.

Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas.

Isidro G, Laranjeira F, Pires A, Leite J, Regateiro F, Castro e Sousa F, Soares J, Castro C, Giria J, Brito MJ, Medeira A, Teixeira R, Morna H, Gaspar I, Marinho C, Jorge R, Brehm A, Ramos JS, Boavida MG.

Hum Mutat. 2004 Oct;24(4):353-4.

PMID:
15366000
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 exon 7 and 13 mutations associated with colorectal cancer (MAP syndrome) are not commonly associated with sporadic pancreatic cancer.

Smith LM, Sharif S, Brand R, Fink E, Lamb J, Whitcomb DC.

Pancreatology. 2009;9(6):793-6. doi: 10.1159/000199440. Epub 2010 Jan 28.

PMID:
20110747
14.

MutYH (MYH) and colorectal cancer.

Sampson JR, Jones S, Dolwani S, Cheadle JP.

Biochem Soc Trans. 2005 Aug;33(Pt 4):679-83. Review.

PMID:
16042573
15.

Management of MUTYH-associated neoplasia in Australia.

Worthley DL, Suthers G, Lipton L.

Intern Med J. 2008 Aug;38(8):644-50. doi: 10.1111/j.1445-5994.2007.01521.x. Epub 2008 Feb 20.

PMID:
18298557
16.

MUTYH hotspot mutations in unselected colonoscopy patients.

Casper M, Plotz G, Juengling B, Zeuzem S, Lammert F, Raedle J.

Colorectal Dis. 2012 May;14(5):e238-44. doi: 10.1111/j.1463-1318.2012.02920.x.

PMID:
22469480
17.

Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis.

Nascimbeni R, Pucciarelli S, Di Lorenzo D, Urso E, Casella C, Agostini M, Nitti D, Salerni B.

Dis Colon Rectum. 2010 Dec;53(12):1670-5. doi: 10.1007/DCR.0b013e3181ee3d6b.

PMID:
21178863
18.

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
19.

Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair.

Parker AR, Sieber OM, Shi C, Hua L, Takao M, Tomlinson IP, Eshleman JR.

Carcinogenesis. 2005 Nov;26(11):2010-8. Epub 2005 Jun 29.

PMID:
15987719
20.

No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.

Steinke V, Rahner N, Morak M, Keller G, Schackert HK, Görgens H, Schmiegel W, Royer-Pokora B, Dietmaier W, Kloor M, Engel C, Propping P, Aretz S; German HNPCC Consortium.

Eur J Hum Genet. 2008 May;16(5):587-92. doi: 10.1038/ejhg.2008.26. Epub 2008 Feb 27.

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