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183 related items for PubMed ID: 20051841

  • 1. Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients.
    Abdel Wahab M, de Moerloose P, Fish RJ, Neerman-Arbez M.
    Blood Coagul Fibrinolysis; 2010 Mar; 21(2):164-7. PubMed ID: 20051841
    [Abstract] [Full Text] [Related]

  • 2. Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations.
    Neerman-Arbez M, de Moerloose P.
    Hum Mutat; 2007 Jun; 28(6):540-53. PubMed ID: 17295221
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  • 4. 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; 97(4):546-51. PubMed ID: 17393016
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  • 5. Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion.
    Vu D, de Moerloose P, Batorova A, Lazur J, Palumbo L, Neerman-Arbez M.
    J Med Genet; 2005 Sep; 42(9):e57. PubMed ID: 16141000
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  • 6. 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; 20(5):385-7. PubMed ID: 19417632
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  • 7. 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 Jul; 41(3):292-7. PubMed ID: 18676163
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  • 8. A case of congenital afibrinogenemia: fibrinogen Hakata, a novel nonsense mutation of the fibrinogen gamma-chain gene.
    Iida H, Ishii E, Nakahara M, Urata M, Wakiyama M, Kurihara M, Watanabe K, Kai T, Ihara K, Kinoshita S, Hamasaki N.
    Thromb Haemost; 2000 Jul; 84(1):49-53. PubMed ID: 10928469
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  • 9. 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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  • 10. [Congenital afibrinogenemia associated with a novel nonsense mutation in the FGA gene].
    Wu SY, Wang ZY, Dong NZ, Bai X, Ruan CG.
    Zhonghua Xue Ye Xue Za Zhi; 2005 Mar 01; 26(3):133-6. PubMed ID: 15946522
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  • 11. Identification of three FGA mutations in two Chinese families with congenital afibrinogenaemia.
    Fang Y, Dai BT, Wang XF, Fu QH, Dai J, Xie F, Cai XH, Wang HL, Wang ZY.
    Haemophilia; 2006 Nov 01; 12(6):615-20. PubMed ID: 17083511
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  • 12. A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family.
    Levrat E, Aboukhamis I, de Moerloose P, Farho J, Chamaa S, Reber G, Fort A, Neerman-Arbez M.
    Blood Coagul Fibrinolysis; 2011 Mar 01; 22(2):148-50. PubMed ID: 21245743
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  • 13. Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia.
    Tirefort Y, Alson OR, de Moerloose P, Neerman-Arbez M.
    Blood Coagul Fibrinolysis; 2012 Sep 01; 23(6):556-8. PubMed ID: 22732251
    [Abstract] [Full Text] [Related]

  • 14. 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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  • 15. Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion.
    Vu D, Bolton-Maggs PH, Parr JR, Morris MA, de Moerloose P, Neerman-Arbez M.
    Blood; 2003 Dec 15; 102(13):4413-5. PubMed ID: 12893758
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  • 17. A novel fibrinogen B beta chain frameshift mutation causes congenital afibrinogenaemia.
    Zhang J, Zhao X, Wang Z, Yu Z, Cao L, Zhang W, Bai X, Ruan C.
    Thromb Haemost; 2013 Jul 15; 110(1):76-82. PubMed ID: 23740095
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  • 19. 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 15; 136(1):144-7. PubMed ID: 25981141
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  • 20. 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]

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