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Journal Abstract Search

338 related items for PubMed ID: 12136240

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  • 3. 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. PubMed ID: 11933206
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  • 4. Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.
    Nielsen M, Bik E, Hes FJ, Breuning MH, Vasen HF, Bakker E, Tops CM, Weiss MM.
    Eur J Hum Genet; 2007 Oct; 15(10):1034-42. PubMed ID: 17568392
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  • 5. 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 Oct; 11(3):197-201. PubMed ID: 9521420
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  • 7. Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.
    Stekrova J, Sulova M, Kebrdlova V, Zidkova K, Kotlas J, Ilencikova D, Vesela K, Kohoutova M.
    BMC Med Genet; 2007 Apr 05; 8():16. PubMed ID: 17411426
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  • 8. [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 03; 136(23):733-8. PubMed ID: 9476377
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  • 9. 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 Dec 03; 9(1):7-16. PubMed ID: 8990002
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  • 10. Characterization of two novel adenomatous polyposis coli (APC) gene mutations in patients with familial adenomatous polyposis (FAP).
    Bapat B, Berk T, Mitri A, Cohen Z, Gallinger S, Stern H.
    Hum Mutat; 1994 Dec 03; 4(4):253-6. PubMed ID: 7866403
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  • 11. 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 Dec 03; 13(2):116-23. PubMed ID: 10094547
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  • 12. Identification of a novel duplication in the APC gene using multiple ligation probe amplification in a patient with familial adenomatous polyposis.
    Pedace L, Majore S, Megiorni F, Binni F, De Bernardo C, Antigoni I, Preziosi N, Mazzilli MC, Grammatico P.
    Cancer Genet Cytogenet; 2008 Apr 15; 182(2):130-5. PubMed ID: 18406876
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  • 13. Mutation analysis of the adenomatous polyposis coli (APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer.
    Ruiz-Ponte C, Vega A, Carracedo A, Barros F.
    Hum Mutat; 2001 Oct 15; 18(4):355. PubMed ID: 11668620
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  • 14. Analysis of germline mutations in the APC gene in familial adenomatous polyposis patients.
    Liu XR, Shan XN, Friedl W, Uhlhaas S, Propping P, Wang YP.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Jun 15; 22(3):261-4. PubMed ID: 15952110
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  • 15. [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. PubMed ID: 9119305
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  • 18. Maternal mosaicism for a second mutational event--a novel deletion--in a familial adenomatous polyposis family harboring a new germ-line mutation in the alternatively spliced-exon 9 region of APC.
    Davidson S, Leshanski L, Rennert G, Eidelman S, Amikam D.
    Hum Mutat; 2002 Jan 15; 19(1):83-4. PubMed ID: 11754114
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  • 19. APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.
    Filipe B, Baltazar C, Albuquerque C, Fragoso S, Lage P, Vitoriano I, Mão de Ferro S, Claro I, Rodrigues P, Fidalgo P, Chaves P, Cravo M, Nobre Leitão C.
    Clin Genet; 2009 Sep 15; 76(3):242-55. PubMed ID: 19793053
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  • 20. Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study.
    Michils G, Tejpar S, Thoelen R, van Cutsem E, Vermeesch JR, Fryns JP, Legius E, Matthijs G.
    Hum Mutat; 2005 Feb 15; 25(2):125-34. PubMed ID: 15643602
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