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Items: 1 to 20 of 807

1.

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.

2.

APC genotype, polyp number, and surgical options in familial adenomatous polyposis.

Wu JS, Paul P, McGannon EA, Church JM.

Ann Surg. 1998 Jan;227(1):57-62.

3.

Different phenotype manifestation of familial adenomatous polyposis in families with APC mutation at codon 1309.

Wachsmannova-Matelova L, Stevurkova V, Adamcikova Z, Holec V, Zajac V.

Neoplasma. 2009;56(6):486-9.

PMID:
19728755
4.

Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis.

Bertario L, Russo A, Sala P, Varesco L, Giarola M, Mondini P, Pierotti M, Spinelli P, Radice P; Hereditary Colorectal Tumor Registry.

J Clin Oncol. 2003 May 1;21(9):1698-707.

PMID:
12721244
5.
6.

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
7.

Balance between endoscopic and genetic information in the choice of ileorectal anastomosis for familial adenomatous polyposis.

Valanzano R, Ficari F, Curia MC, Aceto G, Veschi S, Cama A, Battista P, Tonelli F.

J Surg Oncol. 2007 Jan 1;95(1):28-33.

PMID:
17192888
8.

The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis.

Enomoto M, Konishi M, Iwama T, Utsunomiya J, Sugihara KI, Miyaki M.

Jpn J Clin Oncol. 2000 Feb;30(2):82-8.

PMID:
10768871
9.

Mutation analysis of the APC gene in Taiwanese FAP families: low incidence of APC germline mutation in a distinct subgroup of FAP families.

Chiang JM, Chen HW, Tang RP, Chen JS, Changchien CR, Hsieh PS, Wang JY.

Fam Cancer. 2010 Jun;9(2):117-24. doi: 10.1007/s10689-009-9292-2. Epub 2009 Sep 19.

PMID:
19768578
10.

Clinical features and genotype-phenotype correlations in 41 Italian families with adenomatosis coli.

Ponz de Leon M, Benatti P, Percesepe A, Cacciatore A, Sassatelli R, Bertoni G, Sabadini G, Varesco L, Gismondi V, Mareni C, Montera M, Di Gregorio C, Landi P, Roncucci L.

Ital J Gastroenterol Hepatol. 1999 Dec;31(9):850-60.

PMID:
10669993
11.

Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Novel criteria of assessment and correlations with constitutional adenomatous polyposis coli gene mutations.

Valanzano R, Cama A, Volpe R, Curia MC, Mencucci R, Palmirotta R, Battista P, Ficari F, Mariani-Costantini R, Tonelli F.

Cancer. 1996 Dec 1;78(11):2400-10.

12.

Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status.

Heinimann K, Müllhaupt B, Weber W, Attenhofer M, Scott RJ, Fried M, Martinoli S, Müller H, Dobbie Z.

Gut. 1998 Nov;43(5):675-9.

13.

Molecular and clinical study of familial adenomatous polyposis for genetic testing and management.

Li G, Tamura K, Yamamoto Y, Sashio H, Utsunomiya J, Yamamura T, Shimoyama T, Furuyama J.

J Exp Clin Cancer Res. 1999 Dec;18(4):519-29. Erratum in: J Exp Clin Cancer Res 2000 Mar;19(1):126.

PMID:
10746979
14.

Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes.

Scott RJ, van der Luijt R, Spycher M, Mary JL, Müller A, Hoppeler T, Haner M, Müller H, Martinoli S, Brazzola PL, et al.

Gut. 1995 May;36(5):731-6. Erratum in: Gut. 1996 May;38(5):794.

15.

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
16.
17.

Transcript dosage effect in familial adenomatous polyposis: model offered by two kindreds with exon 9 APC gene mutations.

Curia MC, Esposito DL, Aceto G, Palmirotta R, Crognale S, Valanzano R, Ficari F, Tonelli F, Battista P, Mariani-Costantini R, Cama A.

Hum Mutat. 1998;11(3):197-201.

PMID:
9521420
18.

Familial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneity.

Scott RJ, Meldrum C, Crooks R, Spigelman AD, Kirk J, Tucker K, Koorey D; Hunter Family Cancer Service.

Gut. 2001 Apr;48(4):508-14.

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.

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