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Journal Abstract Search

388 related items for PubMed ID: 29286337

  • 1. Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders.
    Simurda T, Zolkova J, Snahnicanova Z, Loderer D, Skornova I, Sokol J, Hudecek J, Stasko J, Lasabova Z, Kubisz P.
    Int J Mol Sci; 2017 Dec 29; 19(1):. PubMed ID: 29286337
    [Abstract] [Full Text] [Related]

  • 2. Congenital afibrinogenemia: Identification and characterization of two novel homozygous fibrinogen Aα and Bβ chain mutations in two Tunisian families.
    Amri Y, Toumi Nel H, Hadj Fredj S, de Moerloose P.
    Thromb Res; 2016 Jul 29; 143():11-6. PubMed ID: 27164460
    [Abstract] [Full Text] [Related]

  • 3. Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ-module.
    Asselta R, Robusto M, Braidotti P, Peyvandi F, Nastasio S, D'Antiga L, Perisic VN, Maggiore G, Caccia S, Duga S.
    J Thromb Haemost; 2015 Aug 29; 13(8):1459-67. PubMed ID: 26039544
    [Abstract] [Full Text] [Related]

  • 4. Hypodysfibrinogenemia: A novel abnormal fibrinogen associated with bleeding and thrombotic complications.
    Amri Y, Kallel C, Becheur M, Dabboubi R, Elloumi M, Belaaj H, Kammoun S, Messaoud T, de Moerloose P, Toumi Nel H.
    Clin Chim Acta; 2016 Sep 01; 460():55-62. PubMed ID: 27343352
    [Abstract] [Full Text] [Related]

  • 5. Congenital hypofibrinogenemia associated with novel homozygous fibrinogen Aα and heterozygous Bβ chain mutations.
    Castaman G, Rimoldi V, Giacomelli SH, Duga S.
    Thromb Res; 2015 Jul 01; 136(1):144-7. PubMed ID: 25981141
    [Abstract] [Full Text] [Related]

  • 6. FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations.
    Casini A, Lukowski S, Quintard VL, Crutu A, Zak M, Regazzoni S, de Moerloose P, Neerman-Arbez M.
    Thromb Res; 2014 May 01; 133(5):868-74. PubMed ID: 24560896
    [Abstract] [Full Text] [Related]

  • 7. Genetic and clinical characterization of congenital fibrinogen disorders in Polish patients: Identification of three novel fibrinogen gamma chain mutations.
    Wypasek E, Klukowska A, Zdziarska J, Zawilska K, Treliński J, Iwaniec T, Mital A, Pietrys D, Sydor W, Neerman-Arbez M, Undas A.
    Thromb Res; 2019 Oct 01; 182():133-140. PubMed ID: 31479941
    [Abstract] [Full Text] [Related]

  • 8. A novel missense mutation in the FGB gene (p.Gly302Arg) leading to afibrinogenemia. Predicted structure and function consequences.
    Ivaškevičius V, Rühl H, Detarsio G, Biswas A, Gupta S, Davoli M, Quartara A, Pérez S, Raviola M, Oldenburg J.
    Hamostaseologie; 2016 Nov 08; 36(Suppl. 2):S34-S38. PubMed ID: 27824214
    [Abstract] [Full Text] [Related]

  • 9. Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia.
    Asselta R, Spena S, Duga S, Peyvandi F, Malcovati M, Mannucci PM, Tenchini ML.
    Haematologica; 2002 Aug 08; 87(8):855-9. PubMed ID: 12161363
    [Abstract] [Full Text] [Related]

  • 10. Laboratory and Genetic Investigation of Mutations Accounting for Congenital Fibrinogen Disorders.
    Neerman-Arbez M, de Moerloose P, Casini A.
    Semin Thromb Hemost; 2016 Jun 08; 42(4):356-65. PubMed ID: 27019463
    [Abstract] [Full Text] [Related]

  • 11. [Congenital afibrinogenemia caused by a novel insertion mutation in the FGB gene].
    Zhang J, Zhao XJ, Wang ZY, Yu ZQ, Cao LJ, Ma ZN, Zhang J, Zhang W, Bai X, Ruan CG.
    Zhonghua Xue Ye Xue Za Zhi; 2013 Sep 08; 34(9):751-6. PubMed ID: 24103871
    [Abstract] [Full Text] [Related]

  • 12. Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites.
    Spena S, Duga S, Asselta R, Malcovati M, Peyvandi F, Tenchini ML.
    Blood; 2002 Dec 15; 100(13):4478-84. PubMed ID: 12393540
    [Abstract] [Full Text] [Related]

  • 13. Congenital hypofibrinogenemia associated with novel heterozygous fibrinogen Bbeta and gamma chain mutations.
    Castaman G, Giacomelli SH, Duga S, Rodeghiero F.
    Haemophilia; 2008 May 15; 14(3):630-3. PubMed ID: 18393984
    [No Abstract] [Full Text] [Related]

  • 14. Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion.
    Duga S, Asselta R, Santagostino E, Zeinali S, Simonic T, Malcovati M, Mannucci PM, Tenchini ML.
    Blood; 2000 Feb 15; 95(4):1336-41. PubMed ID: 10666208
    [Abstract] [Full Text] [Related]

  • 15. Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bbeta-chain gene.
    Monaldini L, Asselta R, Duga S, Peyvandi F, Ghosh K, Malcovati M, Tenchini ML.
    Haematologica; 2006 May 15; 91(5):628-33. PubMed ID: 16670068
    [Abstract] [Full Text] [Related]

  • 16. Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation.
    Asselta R, Duga S, Simonic T, Malcovati M, Santagostino E, Giangrande PL, Mannucci PM, Tenchini ML.
    Blood; 2000 Oct 01; 96(7):2496-500. PubMed ID: 11001902
    [Abstract] [Full Text] [Related]

  • 17. Mutations Accounting for Congenital Fibrinogen Disorders: An Update.
    Richard M, Celeny D, Neerman-Arbez M.
    Semin Thromb Hemost; 2022 Nov 01; 48(8):889-903. PubMed ID: 35073585
    [Abstract] [Full Text] [Related]

  • 18. Diagnosis of congenital fibrinogen disorders.
    Lebreton A, Casini A.
    Ann Biol Clin (Paris); 2016 Aug 01; 74(4):405-12. PubMed ID: 27492693
    [Abstract] [Full Text] [Related]

  • 19. Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion.
    Platè M, Asselta R, Spena S, Spreafico M, Fagoonee S, Peyvandi F, Tenchini ML, Duga S.
    Blood Cells Mol Dis; 2008 Aug 01; 41(3):292-7. PubMed ID: 18676163
    [Abstract] [Full Text] [Related]

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