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482 related items for PubMed ID: 14735163

  • 1. 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. PubMed ID: 14735163
    [Abstract] [Full Text] [Related]

  • 2. 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. PubMed ID: 16941501
    [Abstract] [Full Text] [Related]

  • 3. 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 01; 21(9):1698-707. PubMed ID: 12721244
    [Abstract] [Full Text] [Related]

  • 4. [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 May 01; 145(6):475-9. PubMed ID: 16836001
    [Abstract] [Full Text] [Related]

  • 5. Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization.
    Kanter-Smoler G, Björk J, Fritzell K, Engwall Y, Hallberg B, Karlsson G, Grönberg H, Karlsson P, Wallgren A, Wahlström J, Hultcrantz R, Nordling M.
    Clin Gastroenterol Hepatol; 2006 Apr 01; 4(4):499-506. PubMed ID: 16616356
    [Abstract] [Full Text] [Related]

  • 6. Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations.
    Vandrovcová J, Stekrová J, Kebrdlová V, Kohoutová M.
    Hum Mutat; 2004 Apr 01; 23(4):397. PubMed ID: 15024739
    [Abstract] [Full Text] [Related]

  • 7. Suggestive linkage of familial primary cutaneous amyloidosis to a locus on chromosome 1q23.
    Lin MW, Lee DD, Lin CH, Huang CY, Wong CK, Chang YT, Liu HN, Hsiao KJ, Tsai SF.
    Br J Dermatol; 2005 Jan 01; 152(1):29-36. PubMed ID: 15656797
    [Abstract] [Full Text] [Related]

  • 8. Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis.
    Dobbie Z, Heinimann K, Bishop DT, Müller H, Scott RJ.
    Hum Genet; 1997 May 01; 99(5):653-7. PubMed ID: 9150735
    [Abstract] [Full Text] [Related]

  • 9. Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.
    Russell AM, Zhang J, Luz J, Hutter P, Chappuis PO, Berthod CR, Maillet P, Mueller H, Heinimann K.
    Int J Cancer; 2006 Apr 15; 118(8):1937-40. PubMed ID: 16287072
    [Abstract] [Full Text] [Related]

  • 10. [Genetic analysis in familial adenomatous polyposis].
    Andresen PA, Gedde-Dahl T, Fausa O, Eide TJ, Heiberg A.
    Tidsskr Nor Laegeforen; 2001 Jan 10; 121(1):64-8. PubMed ID: 12013617
    [Abstract] [Full Text] [Related]

  • 11. 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 10; 71(5):427-33. PubMed ID: 17489848
    [Abstract] [Full Text] [Related]

  • 12. Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition.
    Wallis YL, Morton DG, McKeown CM, Macdonald F.
    J Med Genet; 1999 Jan 10; 36(1):14-20. PubMed ID: 9950360
    [Abstract] [Full Text] [Related]

  • 13. 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 Jan 10; 11(3):197-201. PubMed ID: 9521420
    [Abstract] [Full Text] [Related]

  • 14. Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics.
    Bouguen G, Manfredi S, Blayau M, Dugast C, Buecher B, Bonneau D, Siproudhis L, David V, Bretagne JF.
    Dis Colon Rectum; 2007 Oct 10; 50(10):1612-7. PubMed ID: 17674103
    [Abstract] [Full Text] [Related]

  • 15. 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 10; 29(2):413-21. PubMed ID: 16820884
    [Abstract] [Full Text] [Related]

  • 16. Nontruncating APC germ-line mutations and mismatch repair deficiency play a minor role in APC mutation-negative polyposis.
    Heinimann K, Thompson A, Locher A, Furlanetto T, Bader E, Wolf A, Meier R, Walter K, Bauerfeind P, Marra G, Müller H, Foernzler D, Dobbie Z.
    Cancer Res; 2001 Oct 15; 61(20):7616-22. PubMed ID: 11606402
    [Abstract] [Full Text] [Related]

  • 17. Preliminary results of the molecular diagnosis of familial adenomatous polyposis in Cuban families.
    Cruz-Bustillo D, Villasana L, Llorente F, Casadesús D, García E, Syrris P, Carter N, Guerra R, Llanio R.
    Int J Colorectal Dis; 2002 Sep 15; 17(5):344-7. PubMed ID: 12172928
    [Abstract] [Full Text] [Related]

  • 18. Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP).
    Bisgaard ML, Ripa RS, Bülow S.
    Hum Mutat; 2004 May 15; 23(5):522. PubMed ID: 15108286
    [Abstract] [Full Text] [Related]

  • 19. Association of extracolonic manifestations of familial adenomatous polyposis with acetylation phenotype in a large FAP kindred.
    Scott RJ, Taeschner W, Heinimann K, Müller H, Dobbie Z, Morgenthaler S, Hoffmann F, Peterli B, Meyer UA.
    Eur J Hum Genet; 1997 May 15; 5(1):43-9. PubMed ID: 9156320
    [Abstract] [Full Text] [Related]

  • 20. Familial adenomatous polyposis: genetics and epidemiology.
    Varesco L.
    Tech Coloproctol; 2004 Dec 15; 8 Suppl 2():s305-8. PubMed ID: 15666112
    [Abstract] [Full Text] [Related]

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