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Journal Abstract Search

223 related items for PubMed ID: 23560673

  • 1. Molecular basis of quantitative fibrinogen disorders in 27 patients from India.
    Sumitha E, Jayandharan GR, Arora N, Abraham A, David S, Devi GS, Shenbagapriya P, Nair SC, George B, Mathews V, Chandy M, Viswabandya A, Srivastava A.
    Haemophilia; 2013 Jul; 19(4):611-8. PubMed ID: 23560673
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  • 7. 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; 87(8):855-9. PubMed ID: 12161363
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  • 9. 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; 41(3):292-7. PubMed ID: 18676163
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  • 11. 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; 136(1):144-7. PubMed ID: 25981141
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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. Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes.
    Neerman-Arbez M, de Moerloose P, Honsberger A, Parlier G, Arnuti B, Biron C, Borg JY, Eber S, Meili E, Peter-Salonen K, Ripoll L, Vervel C, d'Oiron R, Staeger P, Antonarakis SE, Morris MA.
    Hum Genet; 2001 Mar 15; 108(3):237-40. PubMed ID: 11354637
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  • 17. 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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  • 18. Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia.
    Neerman-Arbez M, de Moerloose P, Bridel C, Honsberger A, Schönbörner A, Rossier C, Peerlinck K, Claeyssens S, Di Michele D, d'Oiron R, Dreyfus M, Laubriat-Bianchin M, Dieval J, Antonarakis SE, Morris MA.
    Blood; 2000 Jul 01; 96(1):149-52. PubMed ID: 10891444
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  • 19. 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 01; 13(8):1459-67. PubMed ID: 26039544
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