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212 related items for PubMed ID: 16999847

  • 1. The molecular basis of quantitative fibrinogen disorders.
    Asselta R, Duga S, Tenchini ML.
    J Thromb Haemost; 2006 Oct; 4(10):2115-29. PubMed ID: 16999847
    [Abstract] [Full Text] [Related]

  • 2. Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency.
    Asselta R, Platè M, Robusto M, Borhany M, Guella I, Soldà G, Afrasiabi A, Menegatti M, Shamsi T, Peyvandi F, Duga S.
    Thromb Haemost; 2015 Mar; 113(3):567-76. PubMed ID: 25427968
    [Abstract] [Full Text] [Related]

  • 3. Molecular genetics of quantitative fibrinogen disorders.
    Asselta R, Spena S, Duga S, Tenchini ML.
    Cardiovasc Hematol Agents Med Chem; 2007 Apr; 5(2):163-73. PubMed ID: 17430139
    [Abstract] [Full Text] [Related]

  • 4. Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains.
    Paraboschi EM, Duga S, Asselta R.
    Int J Mol Sci; 2017 Dec 14; 18(12):. PubMed ID: 29240685
    [Abstract] [Full Text] [Related]

  • 5. 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 Dec 14; 41(3):292-7. PubMed ID: 18676163
    [Abstract] [Full Text] [Related]

  • 6. Congenital fibrinogen disorders: an update.
    de Moerloose P, Casini A, Neerman-Arbez M.
    Semin Thromb Hemost; 2013 Sep 14; 39(6):585-95. PubMed ID: 23852822
    [Abstract] [Full Text] [Related]

  • 7. 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 14; 13(8):1459-67. PubMed ID: 26039544
    [Abstract] [Full Text] [Related]

  • 8. Mutational screening of six afibrinogenemic patients: identification and characterization of four novel molecular defects.
    Monaldini L, Asselta R, Duga S, Peyvandi F, Karimi M, Malcovati M, Tenchini ML.
    Thromb Haemost; 2007 Apr 14; 97(4):546-51. PubMed ID: 17393016
    [Abstract] [Full Text] [Related]

  • 9. 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 14; 143():11-6. PubMed ID: 27164460
    [Abstract] [Full Text] [Related]

  • 10. Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation.
    Asselta R, Robusto M, Platé M, Santoro C, Peyvandi F, Duga S.
    Thromb Res; 2015 Jul 14; 136(1):168-74. PubMed ID: 26006300
    [Abstract] [Full Text] [Related]

  • 11. Molecular and clinical profile of congenital fibrinogen disorders in Iran, identification of two novel mutations.
    Tavasoli B, Safa M, Dorgalaleh A, Ghasemi JB, Rezaei Makhouri F, Rezvani MR, Ahmadi A, Tabibian S, Jazebi M, Baghaipour MR, Zaker F.
    Int J Lab Hematol; 2020 Oct 14; 42(5):619-627. PubMed ID: 32639687
    [Abstract] [Full Text] [Related]

  • 12. Laboratory and Genetic Investigation of Mutations Accounting for Congenital Fibrinogen Disorders.
    Neerman-Arbez M, de Moerloose P, Casini A.
    Semin Thromb Hemost; 2016 Jun 14; 42(4):356-65. PubMed ID: 27019463
    [Abstract] [Full Text] [Related]

  • 13. Genetic Variants in the FGB and FGG Genes Mapping in the Beta and Gamma Nodules of the Fibrinogen Molecule in Congenital Quantitative Fibrinogen Disorders Associated with a Thrombotic Phenotype.
    Simurda T, Brunclikova M, Asselta R, Caccia S, Zolkova J, Kolkova Z, Loderer D, Skornova I, Hudecek J, Lasabova Z, Stasko J, Kubisz P.
    Int J Mol Sci; 2020 Jun 29; 21(13):. PubMed ID: 32610551
    [Abstract] [Full Text] [Related]

  • 14. 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 29; 182():133-140. PubMed ID: 31479941
    [Abstract] [Full Text] [Related]

  • 15. Rare inherited disorders of fibrinogen.
    Acharya SS, Dimichele DM.
    Haemophilia; 2008 Nov 29; 14(6):1151-8. PubMed ID: 19141154
    [Abstract] [Full Text] [Related]

  • 16. Mutations Accounting for Congenital Fibrinogen Disorders: An Update.
    Richard M, Celeny D, Neerman-Arbez M.
    Semin Thromb Hemost; 2022 Nov 29; 48(8):889-903. PubMed ID: 35073585
    [Abstract] [Full Text] [Related]

  • 17. Mutational Epidemiology of Congenital Fibrinogen Disorders.
    Casini A, Blondon M, Tintillier V, Goodyer M, Sezgin ME, Gunes AM, Hanss M, de Moerloose P, Neerman-Arbez M.
    Thromb Haemost; 2018 Nov 29; 118(11):1867-1874. PubMed ID: 30332696
    [Abstract] [Full Text] [Related]

  • 18. 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 29; 87(8):855-9. PubMed ID: 12161363
    [Abstract] [Full Text] [Related]

  • 19. Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation.
    Casini A, Brungs T, Lavenu-Bombled C, Vilar R, Neerman-Arbez M, de Moerloose P.
    J Thromb Haemost; 2017 May 29; 15(5):876-888. PubMed ID: 28211264
    [Abstract] [Full Text] [Related]

  • 20. Hereditary Hypofibrinogenemia with Hepatic Storage.
    Asselta R, Paraboschi EM, Duga S.
    Int J Mol Sci; 2020 Oct 22; 21(21):. PubMed ID: 33105716
    [Abstract] [Full Text] [Related]

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