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Results: 1 to 20 of 237

1.

MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.

Aretz S, Uhlhaas S, Goergens H, Siberg K, Vogel M, Pagenstecher C, Mangold E, Caspari R, Propping P, Friedl W.

Int J Cancer. 2006 Aug 15;119(4):807-14.

PMID:
16557584
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
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.

PMID:
16287072
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
23561487
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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
[PubMed - indexed for MEDLINE]
10.

Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas.

Gismondi V, Meta M, Bonelli L, Radice P, Sala P, Bertario L, Viel A, Fornasarig M, Arrigoni A, Gentile M, Ponz de Leon M, Anselmi L, Mareni C, Bruzzi P, Varesco L.

Int J Cancer. 2004 May 1;109(5):680-4.

PMID:
14999774
[PubMed - indexed for MEDLINE]
11.

Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk.

Croitoru ME, Cleary SP, Di Nicola N, Manno M, Selander T, Aronson M, Redston M, Cotterchio M, Knight J, Gryfe R, Gallinger S.

J Natl Cancer Inst. 2004 Nov 3;96(21):1631-4.

PMID:
15523092
[PubMed - indexed for MEDLINE]
Free Article
12.

The value of MUTYH testing in patients with early onset microsatellite stable colorectal cancer referred for hereditary nonpolyposis colon cancer syndrome testing.

Riegert-Johnson DL, Johnson RA, Rabe KG, Wang L, Thomas B, Baudhuin LM, Thibodeau SN, Boardman LA.

Genet Test. 2007 Winter;11(4):361-5. doi: 10.1089/gte.2007.0014.

PMID:
18294051
[PubMed - indexed for MEDLINE]
13.

The multiple colorectal adenoma phenotype and MYH, a base excision repair gene.

Lipton L, Tomlinson I.

Clin Gastroenterol Hepatol. 2004 Aug;2(8):633-8. Review.

PMID:
15290654
[PubMed - indexed for MEDLINE]
14.

Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas.

Kim DW, Kim IJ, Kang HC, Jang SG, Kim K, Yoon HJ, Ahn SA, Han SY, Hong SH, Hwang JA, Sohn DK, Jeong SY, Choi HS, Hong CW, Lim SB, Park JG.

Int J Colorectal Dis. 2007 Oct;22(10):1173-8. Epub 2007 Feb 15.

PMID:
17703316
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
18433509
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.

Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, Bisgaard ML, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJ, Tomlinson IP.

N Engl J Med. 2003 Feb 27;348(9):791-9.

PMID:
12606733
[PubMed - indexed for MEDLINE]
Free Article
17.

Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).

Nielsen M, Franken PF, Reinards TH, Weiss MM, Wagner A, van der Klift H, Kloosterman S, Houwing-Duistermaat JJ, Aalfs CM, Ausems MG, Bröcker-Vriends AH, Gomez Garcia EB, Hoogerbrugge N, Menko FH, Sijmons RH, Verhoef S, Kuipers EJ, Morreau H, Breuning MH, Tops CM, Wijnen JT, Vasen HF, Fodde R, Hes FJ.

J Med Genet. 2005 Sep;42(9):e54.

PMID:
16140997
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]
Free Article

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