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Results: 1 to 20 of 233

1.

MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review.

Zorcolo L, Fantola G, Balestrino L, Restivo A, Vivanet C, Spina F, Cabras F, Ambu R, Casula G.

Tumori. 2011 Sep-Oct;97(5):676-80. doi: 10.1700/989.10731. Review.

PMID:
22158503
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
3.

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]
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
[PubMed - indexed for MEDLINE]
5.

[Hyperplastic polyposis syndrome: phenotypic diversity and association to colorectal cancer].

Navarro M, González S, Iglesias S, Capellá G, Rodríguez-Moranta F, Blanco I.

Med Clin (Barc). 2013 Jul 21;141(2):62-6. doi: 10.1016/j.medcli.2012.04.024. Epub 2012 Jul 17. Spanish.

PMID:
22809968
[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.

Clinical characterization and mutation spectrum in Hispanic families with adenomatous polyposis syndromes.

Cruz-Correa M, Diaz-Algorri Y, Mendez V, Vazquez PJ, Lozada ME, Freyre K, Lathroum L, Gonzalez-Pons M, Hernandez-Marrero J, Giardiello F, Rodriguez-Quilichini S.

Fam Cancer. 2013 Sep;12(3):555-62. doi: 10.1007/s10689-013-9617-z.

PMID:
23460355
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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]
9.

Familial adenomatous polyposis.

Half E, Bercovich D, Rozen P.

Orphanet J Rare Dis. 2009 Oct 12;4:22. doi: 10.1186/1750-1172-4-22. Review.

PMID:
19822006
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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]
11.

Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists.

Mongin C, Coulet F, Lefevre JH, Colas C, Svrcek M, Eyries M, Lahely Y, Fléjou JF, Soubrier F, Parc Y.

Clin Genet. 2012 Jan;81(1):38-46. doi: 10.1111/j.1399-0004.2011.01676.x. Epub 2011 May 4.

PMID:
21476993
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH.

Chow E, Lipton L, Lynch E, D'Souza R, Aragona C, Hodgkin L, Brown G, Winship I, Barker M, Buchanan D, Cowie S, Nasioulas S, du Sart D, Young J, Leggett B, Jass J, Macrae F.

Gastroenterology. 2006 Jul;131(1):30-9.

PMID:
16831587
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis.

Burt RW, Leppert MF, Slattery ML, Samowitz WS, Spirio LN, Kerber RA, Kuwada SK, Neklason DW, Disario JA, Lyon E, Hughes JP, Chey WY, White RL.

Gastroenterology. 2004 Aug;127(2):444-51.

PMID:
15300576
[PubMed - indexed for MEDLINE]
16.

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]
17.

Pediatric adenomatous polyposis syndromes: an update.

Erdman SH.

Curr Gastroenterol Rep. 2007 Jun;9(3):237-44. Review.

PMID:
17511923
[PubMed - indexed for MEDLINE]
18.

Adenoma development in a patient with MUTYH-associated polyposis (MAP): new insights into the natural course of polyp development.

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

Dig Dis Sci. 2010 Jun;55(6):1711-5. doi: 10.1007/s10620-009-0916-z. Epub 2009 Aug 12.

PMID:
19672709
[PubMed - indexed for MEDLINE]
19.

The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP).

Claes K, Dahan K, Tejpar S, De Paepe A, Bonduelle M, Abramowicz M, Verellen C, Franchimont D, Van Cutsem E, Kartheuser A.

Acta Gastroenterol Belg. 2011 Sep;74(3):421-6. Review.

PMID:
22103048
[PubMed - indexed for MEDLINE]
20.

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]

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