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Journal Abstract Search

436 related items for PubMed ID: 29286337

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  • 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; 143():11-6. PubMed ID: 27164460
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  • 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; 13(8):1459-67. PubMed ID: 26039544
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  • 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; 133(5):868-74. PubMed ID: 24560896
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  • 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; 182():133-140. PubMed ID: 31479941
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 18. Diagnosis of congenital fibrinogen disorders.
    Lebreton A, Casini A.
    Ann Biol Clin (Paris); 2016 Aug 01; 74(4):405-12. PubMed ID: 27492693
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  • 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
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  • 20. 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 01; 136(1):168-74. PubMed ID: 26006300
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