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Items: 1 to 20 of 195

1.

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
2.

[A novel APC gene germline mutation in a familial adenomatous polyposis pedigree].

Zhou JN, Chen SQ, Zhang XM, Zhou X, Zhu M, Feng B, Li JT, Ma GJ, Zhang YY.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Aug;23(4):388-91. Chinese.

PMID:
16883523
3.

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
5.

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
6.

Nontruncating APC germ-line mutations and mismatch repair deficiency play a minor role in APC mutation-negative polyposis.

Heinimann K, Thompson A, Locher A, Furlanetto T, Bader E, Wolf A, Meier R, Walter K, Bauerfeind P, Marra G, Müller H, Foernzler D, Dobbie Z.

Cancer Res. 2001 Oct 15;61(20):7616-22.

7.

Detection of APC gene deletion by double competitive polymerase chain reaction in patients with familial adenomatous polyposis.

Takahashi M, Kikuchi M, Ohkura N, Yaguchi H, Nagamura Y, Ohnami S, Ushiama M, Yoshida T, Sugano K, Iwama T, Kosugi S, Tsukada T.

Int J Oncol. 2006 Aug;29(2):413-21.

PMID:
16820884
8.

The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations.

De Rosa M, Scarano MI, Panariello L, Morelli G, Riegler G, Rossi GB, Tempesta A, Romano G, Renda A, Pettinato G, Izzo P.

Hum Mutat. 2003 Jun;21(6):655-6.

PMID:
14961559
9.

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
10.

Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.

Mihalatos M, Apessos A, Dauwerse H, Velissariou V, Psychias A, Koliopanos A, Petropoulos K, Triantafillidis JK, Danielidis I, Fountzilas G, Agnantis NJ, Nasioulas G.

BMC Cancer. 2005 Apr 15;5:40.

11.

Germline mutations of the APC gene in Korean familial adenomatous polyposis patients.

Won YJ, Park KJ, Kwon HJ, Lee JH, Kim JH, Kim YJ, Chun SH, Han HJ, Park JG.

J Hum Genet. 1999;44(2):103-8.

PMID:
10083733
12.

Familial adenomatous polyposis coli: five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients. Mutations in brief no. 225. Online.

Scarano MI, De Rosa M, Panariello L, Carlomagno N, Riegler G, Rossi GB, Bucci L, Pesce G, Toni F, Renda A, Izzo P.

Hum Mutat. 1999;13(3):256-7.

PMID:
10090483
13.
14.

APC germline mutations identified in Czech patients with familial adenomatous polyposis.

Kohoutová M, Stekrová J, Jirásek V, Kapras J.

Hum Mutat. 2002 Apr;19(4):460-1.

PMID:
11933206
16.

APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests.

Kerr SE, Thomas CB, Thibodeau SN, Ferber MJ, Halling KC.

J Mol Diagn. 2013 Jan;15(1):31-43. doi: 10.1016/j.jmoldx.2012.07.005. Epub 2012 Nov 14. Review.

PMID:
23159591
17.

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas.

Sieber OM, Lamlum H, Crabtree MD, Rowan AJ, Barclay E, Lipton L, Hodgson S, Thomas HJ, Neale K, Phillips RK, Farrington SM, Dunlop MG, Mueller HJ, Bisgaard ML, Bulow S, Fidalgo P, Albuquerque C, Scarano MI, Bodmer W, Tomlinson IP, Heinimann K.

Proc Natl Acad Sci U S A. 2002 Mar 5;99(5):2954-8. Epub 2002 Feb 26.

18.

Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test.

van der Luijt R, Khan PM, Vasen H, van Leeuwen C, Tops C, Roest P, den Dunnen J, Fodde R.

Genomics. 1994 Mar 1;20(1):1-4.

PMID:
8020934
19.

[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
20.

Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.

Stekrova J, Sulova M, Kebrdlova V, Zidkova K, Kotlas J, Ilencikova D, Vesela K, Kohoutova M.

BMC Med Genet. 2007 Apr 5;8:16.

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