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234 related items for PubMed ID: 12393540

  • 1. 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]

  • 2. 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]

  • 3. 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 01; 87(8):855-9. PubMed ID: 12161363
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA).
    Attanasio C, David A, Neerman-Arbez M.
    Blood; 2003 Mar 01; 101(5):1851-6. PubMed ID: 12406899
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  • 6. 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 01; 143():11-6. PubMed ID: 27164460
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  • 8. Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs.
    Asselta R, Duga S, Spena S, Santagostino E, Peyvandi F, Piseddu G, Targhetta R, Malcovati M, Mannucci PM, Tenchini ML.
    Blood; 2001 Dec 15; 98(13):3685-92. PubMed ID: 11739173
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  • 9. A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing.
    Margaglione M, Santacroce R, Colaizzo D, Seripa D, Vecchione G, Lupone MR, De Lucia D, Fortina P, Grandone E, Perricone C, Di Minno G.
    Blood; 2000 Oct 01; 96(7):2501-5. PubMed ID: 11001903
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  • 10. Cryptic splice site usage in exon 7 of the human fibrinogen Bbeta-chain gene is regulated by a naturally silent SF2/ASF binding site within this exon.
    Spena S, Tenchini ML, Buratti E.
    RNA; 2006 Jun 01; 12(6):948-58. PubMed ID: 16611940
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  • 12. Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G-->T.
    Attanasio C, de Moerloose P, Antonarakis SE, Morris MA, Neerman-Arbez M.
    Blood; 2001 Mar 15; 97(6):1879-81. PubMed ID: 11238133
    [Abstract] [Full Text] [Related]

  • 13. Molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene identified in a compound heterozygous afibrinogenemic patient.
    Platé M, Asselta R, Peyvandi F, Tenchini ML, Duga S.
    Biochim Biophys Acta; 2007 Jul 15; 1772(7):781-7. PubMed ID: 17531448
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  • 14. A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.
    Davis RL, Homer VM, George PM, Brennan SO.
    Hum Mutat; 2009 Feb 15; 30(2):221-7. PubMed ID: 18853456
    [Abstract] [Full Text] [Related]

  • 15. Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia.
    Asselta R, Duga S, Spena S, Peyvandi F, Castaman G, Malcovati M, Mannucci PM, Tenchini ML.
    Blood; 2004 Apr 15; 103(8):3051-4. PubMed ID: 15070683
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  • 16. 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]

  • 17. Liver histology of an afibrinogenemic patient with the Bbeta-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bbeta-L353R fibrinogen vs. the ERSD-associated gamma-G284R mutant.
    Duga S, Braidotti P, Asselta R, Maggioni M, Santagostino E, Pellegrini C, Coggi G, Malcovati M, Tenchini ML.
    J Thromb Haemost; 2005 Apr 15; 3(4):724-32. PubMed ID: 15842357
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 113(3):567-76. PubMed ID: 25427968
    [Abstract] [Full Text] [Related]

  • 19. Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A'.
    Vorjohann S, Fish RJ, Biron-Andréani C, Nagaswami C, Weisel JW, Boulot P, Reyftmann L, de Moerloose P, Neerman-Arbez M.
    Thromb Haemost; 2010 Nov 15; 104(5):990-7. PubMed ID: 20806111
    [Abstract] [Full Text] [Related]

  • 20. 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 15; 97(4):546-51. PubMed ID: 17393016
    [Abstract] [Full Text] [Related]

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