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Items: 1 to 20 of 228

1.

Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5;10)(q22;q25) responsible for familial adenomatous polyposis in a Dutch pedigree.

van der Luijt RB, Tops CM, Khan PM, van der Klift HM, Breukel C, van Leeuwen-Cornelisse IS, Dauwerse HG, Beverstock GC, van Noort E, Snel P, et al.

Genes Chromosomes Cancer. 1995 Jul;13(3):192-202.

PMID:
7669739
2.

Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP)

Stella A, Resta N, Gentile M, Susca F, Mareni C, Montera MP, Guanti G.

Am J Hum Genet. 1993 Nov;53(5):1031-7.

3.

Familial adenomatous polyposis: from bedside to benchside.

O'Sullivan MJ, McCarthy TV, Doyle CT.

Am J Clin Pathol. 1998 May;109(5):521-6. Review.

PMID:
9576568
4.

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
5.

[Familial adenomatous polyposis syndrome (FAP): pathogenesis and molecular mechanisms].

Friedrich A, Kullmann F.

Med Klin (Munich). 2003 Dec 15;98(12):776-82. Review. German.

PMID:
14685680
6.

A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation.

Raedle J, Friedl W, Engels H, Koenig R, Trojan J, Zeuzem S.

Am J Gastroenterol. 2001 Oct;96(10):3016-20.

PMID:
11693343
7.

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
8.

[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.

10.

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
11.

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
12.

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.

13.

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
14.

Genome-wide scan identifies a copy number variable region at 3q26 that regulates PPM1L in APC mutation-negative familial colorectal cancer patients.

Thean LF, Loi C, Ho KS, Koh PK, Eu KW, Cheah PY.

Genes Chromosomes Cancer. 2010 Feb;49(2):99-106. doi: 10.1002/gcc.20724.

PMID:
19847890
15.

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
16.

[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
17.

Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q.

Pilarski RT, Brothman AR, Benn P, Shulman Rosengren S.

Am J Med Genet. 1999 Oct 8;86(4):321-4.

PMID:
10494086
18.

Exclusion of an extracolonic disease modifier locus on chromosome 1p33-36 in a large Swiss familial adenomatous polyposis kindred.

Plasilova M, Russell AM, Wanner A, Wolf A, Dobbie Z, Müller HJ, Heinimann K.

Eur J Hum Genet. 2004 May;12(5):365-71.

19.

Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients.

Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P.

Science. 1991 Aug 9;253(5020):665-9.

PMID:
1651563
20.

Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15.

Su LK, Kohlmann W, Ward PA, Lynch PM.

Hum Genet. 2002 Jul;111(1):88-95. Epub 2002 Jun 14.

PMID:
12136240

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