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Journal Abstract Search

116 related items for PubMed ID: 17938819

  • 1. Fibrinogen Leipzig II (gamma351Gly-->Ser and gamma82Ala-->Gly): hypodysfibrinogenaemia due to two independent amino acid substitutions within the same polypeptide chain.
    Meyer M, Dietzel H, Kaetzel R, Schmidt D, Liebscher K, Brennan SO.
    Thromb Haemost; 2007 Oct; 98(4):903-5. PubMed ID: 17938819
    [No Abstract] [Full Text] [Related]

  • 2. Hypofibrinogenaemia associated with common gamma82Ala-->Gly mutation is not mediated by altered mRNA splicing.
    Brennan SO, Homer VM, Davis RL, Meyer M, George PM.
    Thromb Haemost; 2006 Oct; 96(4):535-7. PubMed ID: 17003934
    [No Abstract] [Full Text] [Related]

  • 3. Fibrinogen Nottingham II: a novel Bbeta Arg264gly substitution causing hypofibrinogenaemia.
    Hill MB, Brennan SO, Dear A, Strong J, Nejim T, Dolan G.
    Thromb Haemost; 2006 Sep; 96(3):378-80. PubMed ID: 16953282
    [No Abstract] [Full Text] [Related]

  • 4. A case of afibrinogenemia associated with A-alpha chain gene compound heterozygosity (HUMFIBRA c.[4110delA]+[3200+1G>T]).
    Angles-Cano E, Mathonnet F, Dreyfus M, Claeyssens S, de Mazancourt P.
    Blood Coagul Fibrinolysis; 2007 Jan; 18(1):73-5. PubMed ID: 17179831
    [Abstract] [Full Text] [Related]

  • 5. A novel fibrinogen variant--Praha I: hypofibrinogenemia associated with gamma Gly351Ser substitution.
    Kotlín R, Chytilová M, Suttnar J, Salaj P, Riedel T, Santrůcek J, Klener P, Dyr JE.
    Eur J Haematol; 2007 May; 78(5):410-6. PubMed ID: 17331136
    [Abstract] [Full Text] [Related]

  • 6. Novel fibrinogen mutation (gamma 313 Ser-->Asn) associated with hypofibrinogenemia in two unrelated families.
    Meyer M, Bergmann F, Brennan SO.
    Blood Coagul Fibrinolysis; 2006 Jan; 17(1):63-7. PubMed ID: 16607083
    [Abstract] [Full Text] [Related]

  • 7. New fibrinogen substitution (gammaSer313Arg) causes diminished gamma chain expression and hypodysfibrinogenaemia.
    Brennan SO, Davis RL, Chitlur M.
    Thromb Haemost; 2010 Feb; 103(2):478-9. PubMed ID: 20126833
    [No Abstract] [Full Text] [Related]

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  • 10. A novel fibrinogen Bbeta chain frameshift mutation in a patient with severe congenital hypofibrinogenaemia.
    Xu X, Wu J, Zhai Z, Zhou R, Wang X, Wang H, Ding K, Sun Z, Ni H.
    Thromb Haemost; 2006 Jun; 95(6):931-5. PubMed ID: 16732370
    [Abstract] [Full Text] [Related]

  • 11. Hypodysfibrinogenaemia and thrombosis in association with a new fibrinogen γ chain with two mutations (γ114Tyr→His, and γ320Asp deleted).
    Brennan SO, Chitlur M.
    Thromb Haemost; 2013 Jun; 109(6):1180-2. PubMed ID: 23467727
    [No Abstract] [Full Text] [Related]

  • 12. Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg-->Trp gene mutation.
    Francalanci P, Santorelli FM, Talini I, Boldrini R, Devito R, Camassei FD, Maggiore G, Callea F.
    J Pediatr; 2006 Mar; 148(3):396-8. PubMed ID: 16615976
    [Abstract] [Full Text] [Related]

  • 13. A novel Asp344Val substitution in the fibrinogen gamma chain (fibrinogen Caen) causes dysfibrinogenemia associated with thrombosis.
    Robert-Ebadi H, Le Querrec A, de Moerloose P, Gandon-Laloum S, Borel Derlon A, Neerman-Arbez M.
    Blood Coagul Fibrinolysis; 2008 Oct; 19(7):697-9. PubMed ID: 18832913
    [Abstract] [Full Text] [Related]

  • 14. Fibrinogen Montreal: a novel missense mutation (Aa D496N) associated with hypofibrinogenaemia.
    Sheen CR, Brennan SO, Jabado N, George PM.
    Thromb Haemost; 2006 Aug; 96(2):231-2. PubMed ID: 16894470
    [No Abstract] [Full Text] [Related]

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  • 16. Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia.
    Vu D, Di Sanza C, Caille D, de Moerloose P, Scheib H, Meda P, Neerman-Arbez M.
    Hum Mol Genet; 2005 Nov 01; 14(21):3271-80. PubMed ID: 16195396
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  • 17. Fibrinogen gamma375 arg-->trp mutation (fibrinogen aguadilla) causes hereditary hypofibrinogenemia, hepatic endoplasmic reticulum storage disease and cirrhosis.
    Rubbia-Brandt L, Neerman-Arbez M, Rougemont AL, Malé PJ, Spahr L.
    Am J Surg Pathol; 2006 Jul 01; 30(7):906-11. PubMed ID: 16819336
    [Abstract] [Full Text] [Related]

  • 18. Fibrinogen Foxton: a novel BbetaA277V mutation causing low normal plasma fibrinogen concentration.
    Davis RL, Baker B, Brennan SO.
    Thromb Haemost; 2008 Oct 01; 100(4):708-10. PubMed ID: 18841297
    [No Abstract] [Full Text] [Related]

  • 19. Clinical and biological features of 3 cases of hypofibrinogenemia associated with three different mutations (gamma Ala341Thr, Bbeta Tyr326Cys and Aalpha Asp496Asn).
    Hanss M, Chevreaud C, French P, Négrier C, de Mazancourt P.
    Thromb Haemost; 2007 Sep 01; 98(3):689-91. PubMed ID: 17849064
    [No Abstract] [Full Text] [Related]

  • 20. A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream.
    Robert-Ebadi H, de Moerloose P, El Khorassani M, El Khattab M, Neerman-Arbez M.
    Blood Coagul Fibrinolysis; 2009 Jul 01; 20(5):385-7. PubMed ID: 19417632
    [Abstract] [Full Text] [Related]

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