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480 related items for PubMed ID: 31591141

  • 1. Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3'-end.
    Disciglio V, Fasano C, Cariola F, Forte G, Grossi V, Sanese P, Lepore Signorile M, Resta N, Lotesoriere C, Stella A, Lolli I, Simone C.
    J Med Genet; 2020 May; 57(5):356-360. PubMed ID: 31591141
    [Abstract] [Full Text] [Related]

  • 2. APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis.
    Stormorken AT, Berg T, Norum OJ, Hølmebakk T, Aaberg K, Steigen SE, Grindedal EM.
    Fam Cancer; 2018 Oct; 17(4):539-543. PubMed ID: 29368261
    [Abstract] [Full Text] [Related]

  • 3. 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. PubMed ID: 17064931
    [Abstract] [Full Text] [Related]

  • 4. Targeted next-generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis.
    Wang D, Liang S, Zhang X, Dey SK, Li Y, Xu C, Yu Y, Li M, Zhao G, Zhang Z.
    Mol Genet Genomic Med; 2019 Jan; 7(1):e00505. PubMed ID: 30523670
    [Abstract] [Full Text] [Related]

  • 5. Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).
    Ghadamyari F, Heidari MM, Zeinali S, Khatami M, Merat S, Bagherian H, Rejali L, Ghasemi F.
    J Clin Lab Anal; 2021 May; 35(5):e23768. PubMed ID: 33769591
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  • 8. Desmoid Tumors in Familial Adenomatous Polyposis.
    DE Marchis ML, Tonelli F, Quaresmini D, Lovero D, Della-Morte D, Silvestris F, Guadagni F, Palmirotta R.
    Anticancer Res; 2017 Jul; 37(7):3357-3366. PubMed ID: 28668823
    [Abstract] [Full Text] [Related]

  • 9. Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis.
    Groves C, Lamlum H, Crabtree M, Williamson J, Taylor C, Bass S, Cuthbert-Heavens D, Hodgson S, Phillips R, Tomlinson I.
    Am J Pathol; 2002 Jun; 160(6):2055-61. PubMed ID: 12057910
    [Abstract] [Full Text] [Related]

  • 10. 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. PubMed ID: 8968744
    [Abstract] [Full Text] [Related]

  • 11. APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'.
    Latchford A, Volikos E, Johnson V, Rogers P, Suraweera N, Tomlinson I, Phillips R, Silver A.
    Hum Mol Genet; 2007 Jan 01; 16(1):78-82. PubMed ID: 17135276
    [Abstract] [Full Text] [Related]

  • 12. A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis.
    Wang D, Liang S, Zhang Z, Zhao G, Hu Y, Liang S, Zhang X, Banerjee S.
    Oncotarget; 2017 Mar 28; 8(13):21327-21335. PubMed ID: 28423518
    [Abstract] [Full Text] [Related]

  • 13. A neoepitope derived from a novel human germline APC gene mutation in familial adenomatous polyposis shows selective immunogenicity.
    Majumder S, Shah R, Elias J, Mistry Y, Coral K, Shah P, Maurya AK, Mittal B, D'Silva JK, Murugan S, Mahadevan L, Sathian R, Ramprasad VL, Chakraborty P, Gupta R, Chaudhuri A, Khanna-Gupta A.
    PLoS One; 2018 Mar 28; 13(9):e0203845. PubMed ID: 30256815
    [Abstract] [Full Text] [Related]

  • 14. Different phenotype manifestation of familial adenomatous polyposis in families with APC mutation at codon 1309.
    Wachsmannova-Matelova L, Stevurkova V, Adamcikova Z, Holec V, Zajac V.
    Neoplasma; 2009 Mar 28; 56(6):486-9. PubMed ID: 19728755
    [Abstract] [Full Text] [Related]

  • 15. Heterozygous APC germline mutations impart predisposition to colorectal cancer.
    Preisler L, Habib A, Shapira G, Kuznitsov-Yanovsky L, Mayshar Y, Carmel-Gross I, Malcov M, Azem F, Shomron N, Kariv R, Hershkovitz D, Ben-Yosef D.
    Sci Rep; 2021 Mar 04; 11(1):5113. PubMed ID: 33664379
    [Abstract] [Full Text] [Related]

  • 16. Thyroid Carcinomas That Occur in Familial Adenomatous Polyposis Patients Recurrently Harbor Somatic Variants in APC, BRAF, and KTM2D.
    Nieminen TT, Walker CJ, Olkinuora A, Genutis LK, O'Malley M, Wakely PE, LaGuardia L, Koskenvuo L, Arola J, Lepistö AH, Brock P, Yilmaz AS, Eisfeld AK, Church JM, Peltomäki P, de la Chapelle A.
    Thyroid; 2020 Mar 04; 30(3):380-388. PubMed ID: 32024448
    [Abstract] [Full Text] [Related]

  • 17. Mutation spectrum of the APC gene in 83 Korean FAP families.
    Kim DW, Kim IJ, Kang HC, Park HW, Shin Y, Park JH, Jang SG, Yoo BC, Lee MR, Hong CW, Park KJ, Oh NG, Kim NK, Sung MK, Lee BW, Kim YJ, Lee H, Park JG.
    Hum Mutat; 2005 Sep 04; 26(3):281. PubMed ID: 16088911
    [Abstract] [Full Text] [Related]

  • 18. Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis.
    Zhang S, Qin H, Lv W, Luo S, Wang J, Fu C, Ma R, Shen Y, Chen S, Wu L.
    Gene; 2016 Feb 15; 577(2):187-92. PubMed ID: 26625971
    [Abstract] [Full Text] [Related]

  • 19. The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.
    Lamlum H, Ilyas M, Rowan A, Clark S, Johnson V, Bell J, Frayling I, Efstathiou J, Pack K, Payne S, Roylance R, Gorman P, Sheer D, Neale K, Phillips R, Talbot I, Bodmer W, Tomlinson I.
    Nat Med; 1999 Sep 15; 5(9):1071-5. PubMed ID: 10470088
    [Abstract] [Full Text] [Related]

  • 20. A novel large germ line deletion in adenomatous polyposis coli (APC) gene associated with familial adenomatous polyposis.
    Pouya F, Mojtabanezhad Shariatpanahi A, Ghaffarzadegan K, Tabatabaee Yazdi SA, Golmohammadzadeh H, Soltani G, Aminian Toosi K, Kerachian MA.
    Mol Genet Genomic Med; 2018 Nov 15; 6(6):1031-1040. PubMed ID: 30259713
    [Abstract] [Full Text] [Related]

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