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Items: 1 to 20 of 133

1.

Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis.

Fodde R, van der Luijt R, Wijnen J, Tops C, van der Klift H, van Leeuwen-Cornelisse I, Griffioen G, Vasen H, Khan PM.

Genomics. 1992 Aug;13(4):1162-8.

PMID:
1324223
2.

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
3.

[Familial adenomatous polyposis coli in the Czech population. I. Detection of an additional 3 mutations out of a total of 7 in exon 15 of the APC gene].

Jirásek V, Olschwang S, Boisson C, Janda J, Thomas G, Martásek P.

Cas Lek Cesk. 1997 Dec 3;136(23):733-8. Czech.

PMID:
9476377
4.

Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis.

Mandl M, Paffenholz R, Friedl W, Caspari R, Sengteller M, Propping P.

Hum Mol Genet. 1994 Jan;3(1):181-4.

PMID:
8162022
5.

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
6.

[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
7.

Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients.

Nagase H, Miyoshi Y, Horii A, Aoki T, Petersen GM, Vogelstein B, Maher E, Ogawa M, Maruyama M, Utsunomiya J, et al.

Hum Mutat. 1992;1(6):467-73.

PMID:
1338764
8.

Identification of APC gene mutations in Italian adenomatous polyposis coli patients by PCR-SSCP analysis.

Varesco L, Gismondi V, James R, Robertson M, Grammatico P, Groden J, Casarino L, De Benedetti L, Bafico A, Bertario L, et al.

Am J Hum Genet. 1993 Feb;52(2):280-5.

9.

Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis.

Su LK, Steinbach G, Sawyer JC, Hindi M, Ward PA, Lynch PM.

Hum Genet. 2000 Jan;106(1):101-7.

PMID:
10982189
11.

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
12.

Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene.

Olschwang S, Laurent-Puig P, Groden J, White R, Thomas G.

Am J Hum Genet. 1993 Feb;52(2):273-9.

13.

Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis.

Paul P, Letteboer T, Gelbert L, Groden J, White R, Coppes MJ.

Hum Mol Genet. 1993 Jul;2(7):925-31.

PMID:
8395941
14.

[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.

15.

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.

16.

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
17.

Identification of APC exon 15 mutations in families suspected of familial adenomatous polyposis (FAP).

Kirchhoff T, Zajac V, Krizan P, Repiská V, Stevurková V, Friedl W.

Folia Biol (Praha). 1997;43(5):203-9.

PMID:
9595262
18.

Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families.

Koorey DJ, McCaughan GW, Trent RJ, Gallagher ND.

Hum Mutat. 1994;3(1):12-8.

PMID:
8118461
19.

First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations.

De Rosa M, Dourisboure RJ, Morelli G, Graziano A, Gutiérrez A, Thibodeau S, Halling K, Avila KC, Duraturo F, Podesta EJ, Izzo P, Solano AR.

Hum Mutat. 2004 May;23(5):523-4.

PMID:
15108288
20.

[Familial adenomatous polyposis: establishing a registry and genetic and molecular analysis].

Shomrat R, Bruchim R, Galanty Y, Samuel Z, Legum C, Rabau M, Rozen P.

Harefuah. 1997 Jan 15;132(2):81-6, 151, 152. Hebrew.

PMID:
9119305

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