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Results: 1 to 20 of 122

1.

Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: case report.

Torrezan GT, da Silva FC, Krepischi AC, Santos ÉM, Ferreira Fde O, Rossi BM, Carraro DM.

BMC Med Genet. 2011 Sep 30;12:128. doi: 10.1186/1471-2350-12-128.

PMID:
21962078
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Topoisomerase-I- and Alu-mediated genomic deletions of the APC gene in familial adenomatous polyposis.

Cao X, Eu KW, Seow-Choen F, Zhao Y, Cheah PY.

Hum Genet. 2001 May;108(5):436-42.

PMID:
11409872
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
5.

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]
6.

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.

PMID:
19531215
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
20687945
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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]
10.

Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis.

Su LK, Steinbach G, Sawyer JC, Hindi M, Ward PA, Lynch PM.

Hum Genet. 2000 Jan;106(1):101-7.

PMID:
10982189
[PubMed - indexed for MEDLINE]
11.

Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome.

Tvrdik T, Marcus S, Hou SM, Fält S, Noori P, Podlutskaja N, Hanefeld F, Strømme P, Lambert B.

Hum Genet. 1998 Sep;103(3):311-8.

PMID:
9799086
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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]
14.

Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.

Dallosso AR, Dolwani S, Jones N, Jones S, Colley J, Maynard J, Idziaszczyk S, Humphreys V, Arnold J, Donaldson A, Eccles D, Ellis A, Evans DG, Frayling IM, Hes FJ, Houlston RS, Maher ER, Nielsen M, Parry S, Tyler E, Moskvina V, Cheadle JP, Sampson JR.

Gut. 2008 Sep;57(9):1252-5. doi: 10.1136/gut.2007.145748. Epub 2008 May 30.

PMID:
18515411
[PubMed - indexed for MEDLINE]
15.

[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
[PubMed - indexed for MEDLINE]
16.

MUTYH-associated polyposis (MAP).

Nielsen M, Morreau H, Vasen HF, Hes FJ.

Crit Rev Oncol Hematol. 2011 Jul;79(1):1-16. doi: 10.1016/j.critrevonc.2010.05.011. Epub 2010 Jul 21. Review.

PMID:
20663686
[PubMed - indexed for MEDLINE]
17.

Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis.

Yanaru-Fujisawa R, Matsumoto T, Ushijima Y, Esaki M, Hirahashi M, Gushima M, Yao T, Nakabeppu Y, Iida M.

Clin Genet. 2008 Jun;73(6):545-53. doi: 10.1111/j.1399-0004.2008.00998.x. Epub 2008 Apr 14.

PMID:
18422726
[PubMed - indexed for MEDLINE]
18.

[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
[PubMed - indexed for MEDLINE]
19.

Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene.

Peixoto A, Pinheiro M, Massena L, Santos C, Pinto P, Rocha P, Pinto C, Teixeira MR.

J Hum Genet. 2013 Feb;58(2):78-83. doi: 10.1038/jhg.2012.137. Epub 2012 Dec 6.

PMID:
23223007
[PubMed - indexed for MEDLINE]
20.

Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer.

Will O, Carvajal-Carmona LG, Gorman P, Howarth KM, Jones AM, Polanco-Echeverry GM, Chinaleong JA, Günther T, Silver A, Clark SK, Tomlinson I.

Gastroenterology. 2007 Feb;132(2):527-30. Epub 2006 Nov 29.

PMID:
17258725
[PubMed - indexed for MEDLINE]
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