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Items: 1 to 20 of 247

1.

Genotype-phenotype correlations in attenuated adenomatous polyposis coli.

Soravia C, Berk T, Madlensky L, Mitri A, Cheng H, Gallinger S, Cohen Z, Bapat B.

Am J Hum Genet. 1998 Jun;62(6):1290-301.

2.

APC haploinsufficiency, but not CTNNB1 or CDH1 gene mutations, accounts for a fraction of familial adenomatous polyposis patients without APC truncating mutations.

Venesio T, Balsamo A, Rondo-Spaudo M, Varesco L, Risio M, Ranzani GN.

Lab Invest. 2003 Dec;83(12):1859-66.

PMID:
14691304
3.

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
4.

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
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.

Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature.

Nieuwenhuis MH, Vasen HF.

Crit Rev Oncol Hematol. 2007 Feb;61(2):153-61. Epub 2006 Oct 24. Review.

PMID:
17064931
7.

Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli.

van der Luijt RB, Meera Khan P, Vasen HF, Breukel C, Tops CM, Scott RJ, Fodde R.

Hum Genet. 1996 Dec;98(6):727-34.

PMID:
8931709
8.

Seven novel mutations in the APC gene of Portuguese families with familial adenomatous polyposis: correlation with phenotype.

Fidalgo PO, Maia LC, Cravo ML, Albuquerque CM, Suspiro A, Ramalho E, Nobre-Leitão C.

Cancer Genet Cytogenet. 1999 Jun;111(2):152-6.

PMID:
10347554
9.
11.
12.

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.

13.

[Genetic diagnosis of familial adenomatous polyposis: detection of APC gene mutations based on an in vitro synthetized protein].

Albuquerque C, Fidalgo P, Chagas C, Suspiro A, Cravo M, Ramalho E, Leitão CN, Mira FC.

Acta Med Port. 1998 Jan;11(1):25-32. Portuguese.

14.

Phenotype-genotype correlations in an extended family with adenomatosis coli and an unusual APC gene mutation.

Ponz de Leon M, Varesco L, Benatti P, Sassatelli R, Izzo P, Scarano MI, Rossi GB, Di Gregorio C, Gismondi V, Percesepe A, de Rosa M, Roncucci L.

Dis Colon Rectum. 2001 Nov;44(11):1597-604.

PMID:
11711730
15.

Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation.

Scott RJ, Froggatt NJ, Trembath RC, Evans DG, Hodgson SV, Maher ER.

Hum Mol Genet. 1996 Dec;5(12):1921-4.

PMID:
8968744
16.

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
17.

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
18.

Phenotypic expression of disease in families that have mutations in the 5' region of the adenomatous polyposis coli gene.

Giardiello FM, Brensinger JD, Luce MC, Petersen GM, Cayouette MC, Krush AJ, Bacon JA, Booker SV, Bufill JA, Hamilton SR.

Ann Intern Med. 1997 Apr 1;126(7):514-9.

PMID:
9092316
19.

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.

20.

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

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