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Items: 1 to 20 of 339

1.

Somatic APC mosaicism: an underestimated cause of polyposis coli.

Hes FJ, Nielsen M, Bik EC, Konvalinka D, Wijnen JT, Bakker E, Vasen HF, Breuning MH, Tops CM.

Gut. 2008 Jan;57(1):71-6. Epub 2007 Jun 29.

PMID:
17604324
2.

Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

Aretz S, Stienen D, Friedrichs N, Stemmler S, Uhlhaas S, Rahner N, Propping P, Friedl W.

Hum Mutat. 2007 Oct;28(10):985-92.

PMID:
17486639
3.

Germline and somatic mutations in exon 15 of the APC gene and K-ras mutations in duodenal adenomas in patients with familial adenomatous polyposis.

Norheim Andersen S, Løvig T, Fausa O, Rognum TO.

Scand J Gastroenterol. 1999 Jun;34(6):611-7.

PMID:
10440612
4.

Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis.

van der Luijt RB, Khan PM, Vasen HF, Tops CM, van Leeuwen-Cornelisse IS, Wijnen JT, van der Klift HM, Plug RJ, Griffioen G, Fodde R.

Hum Mutat. 1997;9(1):7-16.

PMID:
8990002
5.

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.

6.

Detection of APC germ line mosaicism in patients with de novo familial adenomatous polyposis: a plea for the protein truncation test.

Necker J, Kovac M, Attenhofer M, Reichlin B, Heinimann K.

J Med Genet. 2011 Aug;48(8):526-9. doi: 10.1136/jmg.2011.089474. Epub 2011 Jun 7.

PMID:
21653199
7.

APC somatic mosaicism in a patient with Gardner syndrome carrying the E1573X mutation: report of a case.

Filipe B, Albuquerque C, Bik E, Lage P, Rodrigues P, Vossen R, Tops C, Nobre Leitão C.

Dis Colon Rectum. 2009 Aug;52(8):1516-20; discussion 1520-1. doi: 10.1007/DCR.0b013e3181ab810f.

PMID:
19617769
8.

[Hereditary forms of colorectal adenomatous polyposis].

Kohoutová M, Stekrová J, Sulová M, Zidková K, Kleibl Z, Vandrovcová J, Kebrdlová V, Kotlas J, Jirásek V.

Cas Lek Cesk. 2006;145(6):475-9. Czech.

PMID:
16836001
9.
10.

Analysis of germline mutations in the APC gene in familial adenomatous polyposis patients.

Liu XR, Shan XN, Friedl W, Uhlhaas S, Propping P, Wang YP.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Jun;22(3):261-4.

PMID:
15952110
11.
12.

Mutation spectrum of the APC gene in 83 Korean FAP families.

Kim DW, Kim IJ, Kang HC, Park HW, Shin Y, Park JH, Jang SG, Yoo BC, Lee MR, Hong CW, Park KJ, Oh NG, Kim NK, Sung MK, Lee BW, Kim YJ, Lee H, Park JG.

Hum Mutat. 2005 Sep;26(3):281.

PMID:
16088911
13.

A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history.

Truta B, Allen BA, Conrad PG, Weinberg V, Miller GA, Pomponio R, Lipton LR, Guerra G, Tomlinson IP, Sleisenger MH, Kim YS, Terdiman JP.

Fam Cancer. 2005;4(2):127-33.

PMID:
15951963
14.

Gonadal mosaicism and familial adenomatous polyposis.

Schwab AL, Tuohy TM, Condie M, Neklason DW, Burt RW.

Fam Cancer. 2008;7(2):173-7. Epub 2007 Nov 18.

PMID:
18026870
15.

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
16.

Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutation.

Giarola M, Stagi L, Presciuttini S, Mondini P, Radice MT, Sala P, Pierotti MA, Bertario L, Radice P.

Hum Mutat. 1999;13(2):116-23.

PMID:
10094547
18.

Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations?

Aretz S, Koch A, Uhlhaas S, Friedl W, Propping P, von Schweinitz D, Pietsch T.

Pediatr Blood Cancer. 2006 Nov;47(6):811-8.

PMID:
16317745
19.

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
20.

[Germline mutation of adenomatous polyposis coli gene in Chinese patients with familial adenomatous polyposis].

Wang TT, Chen SQ, Zhang XM.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Apr;25(2):199-202. Chinese.

PMID:
18393246

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