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Items: 1 to 20 of 201

1.

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
2.

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
4.

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
5.

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
6.

[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
7.

Founder mutation in familial adenomatous polyposis (FAP) in the Balearic Islands.

González S, Blanco I, Campos O, Julià M, Reyes J, Llompart A, Cabeza E, Germà JR, Obrador A, Capellá G.

Cancer Genet Cytogenet. 2005 Apr 1;158(1):70-4.

PMID:
15771908
8.

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.

9.

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
10.
11.

Familial adenomatous polyposis: genetics and epidemiology.

Varesco L.

Tech Coloproctol. 2004 Dec;8 Suppl 2:s305-8. Review.

PMID:
15666112
12.

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
13.

An unexpected Cowden syndrome case found among members of a large familial adenomatous polyposis kindred.

Mehenni H, Friedl W, Nelen MR, Hutter P, Brundler MA.

Eur J Gastroenterol Hepatol. 2005 Dec;17(12):1407-12.

PMID:
16292097
14.

Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis.

Aretz S, Uhlhaas S, Caspari R, Mangold E, Pagenstecher C, Propping P, Friedl W.

Eur J Hum Genet. 2004 Jan;12(1):52-8.

15.

Investigation of APC mutations in a Turkish familial adenomatous polyposis family by heterodublex analysis.

Tunca B, Menigatti M, Benatti P, Egeli U, Cecener G, Pedroni M, Scarselli A, Borghi F, Sala E, Yilmazlar T, Zorluoglu A, Yerci O, de Leon MP.

Dis Colon Rectum. 2005 Mar;48(3):567-71.

PMID:
15719192
16.

[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
17.

Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations.

De la Fuente MK, Alvarez KP, Letelier AJ, Bellolio F, Acuña ML, León FS, Pinto E, Carvallo P, López-Köstner F.

Dis Colon Rectum. 2007 Dec;50(12):2142-8.

PMID:
17963004
18.

De novo mutations in familial adenomatous polyposis (FAP).

Ripa R, Bisgaard ML, Bülow S, Nielsen FC.

Eur J Hum Genet. 2002 Oct;10(10):631-7. Erratum in: Eur J Hum Genet. 2002 Dec;10(12):887-8.

19.

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
20.

Familial adenomatous polyposis.

Macrae F, du Sart D, Nasioulas S.

Best Pract Res Clin Gastroenterol. 2009;23(2):197-207. doi: 10.1016/j.bpg.2009.02.010. Review.

PMID:
19414146

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