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233 related items for PubMed ID: 30340471

  • 1. Detection of a heterozygous germline APC mutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam.
    Giang H, Nguyen VT, Nguyen SD, Nguyen HP, Vo BT, Nguyen TM, Nguyen NH, Truong KD, Do TT, Phan MD, Nguyen HN.
    BMC Med Genet; 2018 Oct 19; 19(1):188. PubMed ID: 30340471
    [Abstract] [Full Text] [Related]

  • 2. 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 19; 7(1):e00505. PubMed ID: 30523670
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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 28; 35(5):e23768. PubMed ID: 33769591
    [Abstract] [Full Text] [Related]

  • 5. A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.
    Pang M, Liu Y, Hou X, Yang J, He X, Hou N, Liu P, Liang L, Fu J, Wang K, Ye Z, Gong B.
    Mol Med Rep; 2018 Aug 28; 18(2):1423-1432. PubMed ID: 29901124
    [Abstract] [Full Text] [Related]

  • 6. A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Chinese family with familial adenomatous coli.
    Jiang SS, Li JJ, Li Y, He LJ, Wang QJ, Weng DS, Pan K, Liu Q, Zhao JJ, Pan QZ, Zhang XF, Tang Y, Chen CL, Zhang HX, Xu GL, Zeng YX, Xia JC.
    Oncotarget; 2015 Sep 29; 6(29):27267-74. PubMed ID: 26311738
    [Abstract] [Full Text] [Related]

  • 7. A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis.
    Zhang Z, Liang S, Huang H, Wang D, Zhang X, Wu J, Chen H, Wang Y, Rong T, Zhou Y, Banerjee S.
    Oncotarget; 2016 Aug 02; 7(31):50392-50400. PubMed ID: 27391059
    [Abstract] [Full Text] [Related]

  • 8. A case of a child with an APC pathogenic mutation, aberrant expression of splice variants and positive family history of FAP.
    Taki K, Sato Y, Sato Y, Ashihara Y, Chino A, Igarashi M, Sato K, Kitagawa T, Maetani I, Nemoto C, Nasuno K, Sekine T, Arai M.
    Jpn J Clin Oncol; 2014 Jun 02; 44(6):602-6. PubMed ID: 24823678
    [Abstract] [Full Text] [Related]

  • 9. 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 Jun 02; 13(9):e0203845. PubMed ID: 30256815
    [Abstract] [Full Text] [Related]

  • 10. A distinct APC pathogenic germline variant identified in a southern Thai family with familial adenomatous polyposis.
    Wanitsuwan W, Vijasika S, Jirarattanasopa P, Horpaopan S.
    BMC Med Genomics; 2021 Mar 19; 14(1):87. PubMed ID: 33740971
    [Abstract] [Full Text] [Related]

  • 11. Germline mutations of the adenomatous polyposis coli (APC) gene in Algerian familial adenomatous polyposis cohort: first report.
    Khider F, Cherbal F, Boumehdi AL, Layaida K, Mahfouf H, Zebboudj F, Maaoui M.
    Mol Biol Rep; 2022 May 19; 49(5):3823-3837. PubMed ID: 35142982
    [Abstract] [Full Text] [Related]

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  • 13. A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis.
    Zhang Z, Liang S, Wang D, Liang S, Li Y, Wang B, Jiang T, Zhao G, Zhang X, Banerjee S.
    Sci Rep; 2017 Sep 27; 7(1):12357. PubMed ID: 28955048
    [Abstract] [Full Text] [Related]

  • 14. 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 27; 6(6):1031-1040. PubMed ID: 30259713
    [Abstract] [Full Text] [Related]

  • 15. Two Chinese pedigrees for adenomatous polyposis coli: new mutations at codon 1309 and predisposition to phenotypic variations.
    Liao DX, Li B, Du XM, Yu JH, Chang H, Wu ZQ, Hao HJ, Wang YX, Han WD, Cheng SJ, Luo CH.
    Fam Cancer; 2014 Sep 27; 13(3):361-8. PubMed ID: 24664542
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Mutation analysis of the APC gene in Taiwanese FAP families: low incidence of APC germline mutation in a distinct subgroup of FAP families.
    Chiang JM, Chen HW, Tang RP, Chen JS, Changchien CR, Hsieh PS, Wang JY.
    Fam Cancer; 2010 Jun 15; 9(2):117-24. PubMed ID: 19768578
    [Abstract] [Full Text] [Related]

  • 18. Molecular analysis of the APC gene in Sicilian patients with familial adenomatous polyposis (F.A.P.).
    Russo A, Catania VE, Cavallaro A, Ficili B, Lanteri E, Tralongo P, Cappellani A, Randazzo C, Cammisuli F, Madeddu R, Trichilo V, Libra M, Travali S.
    Int J Surg; 2014 Jun 15; 12 Suppl 2():S125-S129. PubMed ID: 25183641
    [Abstract] [Full Text] [Related]

  • 19. Presence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil.
    Moreira-Nunes CA, Alcântara Dd, Lima-Júnior SF, Cavalléro SR, Rey JA, Pinto GR, de Assumpção PP, Burbano RR.
    World J Gastroenterol; 2015 Aug 21; 21(31):9413-9. PubMed ID: 26309368
    [Abstract] [Full Text] [Related]

  • 20. Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis.
    Kim B, Won D, Jang M, Kim H, Choi JR, Kim TI, Lee ST.
    BMC Med Genomics; 2019 Jul 03; 12(1):103. PubMed ID: 31269945
    [Abstract] [Full Text] [Related]

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