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429 related items for PubMed ID: 15377475

  • 1. A new candidate mutation, G1629R, in a patient with type 2A von Willebrand's disease: basic mechanisms and clinical implications.
    Hilbert L, Federici AB, Baronciani L, Dallagiovanna S, Mazurier C.
    Haematologica; 2004 Sep; 89(9):1128-33. PubMed ID: 15377475
    [Abstract] [Full Text] [Related]

  • 2. Laboratory diagnosis of von Willebrand disease type 1/2E (2A subtype IIE), type 1 Vicenza and mild type 1 caused by mutations in the D3, D4, B1-B3 and C1-C2 domains of the von Willebrand factor gene. Role of von Willebrand factor multimers and the von Willebrand factor propeptide/antigen ratio.
    Gadisseur A, Berneman Z, Schroyens W, Michiels JJ.
    Acta Haematol; 2009 Sep; 121(2-3):128-38. PubMed ID: 19506359
    [Abstract] [Full Text] [Related]

  • 3. Dominant von Willebrand disease type 2A groups I and II due to missense mutations in the A2 domain of the von Willebrand factor gene: diagnosis and management.
    Michiels JJ, van Vliet HH.
    Acta Haematol; 2009 Sep; 121(2-3):154-66. PubMed ID: 19506362
    [Abstract] [Full Text] [Related]

  • 4. Laboratory diagnosis and molecular classification of von Willebrand disease.
    Gadisseur A, Hermans C, Berneman Z, Schroyens W, Deckmyn H, Michiels JJ.
    Acta Haematol; 2009 Sep; 121(2-3):71-84. PubMed ID: 19506352
    [Abstract] [Full Text] [Related]

  • 5. Intravenous DDAVP and factor VIII-von Willebrand factor concentrate for the treatment and prophylaxis of bleedings in patients With von Willebrand disease type 1, 2 and 3.
    Michiels JJ, van Vliet HH, Berneman Z, Gadisseur A, van der Planken M, Schroyens W, van der Velden A, Budde U.
    Clin Appl Thromb Hemost; 2007 Jan; 13(1):14-34. PubMed ID: 17164493
    [Abstract] [Full Text] [Related]

  • 6. Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1.
    Michiels JJ, Gadisseur A, Vangenegten I, Schroyens W, Berneman Z.
    Acta Haematol; 2009 Jan; 121(2-3):119-27. PubMed ID: 19506358
    [Abstract] [Full Text] [Related]

  • 7. Molecular genetics of type 2 von Willebrand disease.
    Fressinaud E, Mazurier C, Meyer D.
    Int J Hematol; 2002 Jan; 75(1):9-18. PubMed ID: 11843298
    [Abstract] [Full Text] [Related]

  • 8. Characterization, classification, and treatment of von Willebrand diseases: a critical appraisal of the literature and personal experiences.
    Michiels JJ, Gadisseur A, Budde U, Berneman Z, van der Planken M, Schroyens W, van de Velde A, van Vliet H.
    Semin Thromb Hemost; 2005 Nov; 31(5):577-601. PubMed ID: 16276467
    [Abstract] [Full Text] [Related]

  • 9. Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.
    Gadisseur A, van der Planken M, Schroyens W, Berneman Z, Michiels JJ.
    Acta Haematol; 2009 Nov; 121(2-3):145-53. PubMed ID: 19506361
    [Abstract] [Full Text] [Related]

  • 10. Molecular genetics of von Willebrand disease.
    Mazurier C, Ribba AS, Gaucher C, Meyer D.
    Ann Genet; 1998 Nov; 41(1):34-43. PubMed ID: 9599650
    [Abstract] [Full Text] [Related]

  • 11. Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment.
    Castaman G, Federici AB, Rodeghiero F, Mannucci PM.
    Haematologica; 2003 Jan; 88(1):94-108. PubMed ID: 12551832
    [Abstract] [Full Text] [Related]

  • 12. Laboratory and molecular characteristics of recessive von Willebrand disease type 2C (2A subtype IIC) of variable severity due to homozygous or double heterozygous mutations in the D1 and D2 domains.
    Michiels JJ, Gadisseur A, van der Planken M, Schroyens W, Berneman Z.
    Acta Haematol; 2009 Jan; 121(2-3):111-8. PubMed ID: 19506357
    [Abstract] [Full Text] [Related]

  • 13. Survival of von Willebrand factor released following DDAVP in a type 1 von Willebrand disease cohort: influence of glycosylation, proteolysis and gene mutations.
    Millar CM, Riddell AF, Brown SA, Starke R, Mackie I, Bowen DJ, Jenkins PV, van Mourik JA.
    Thromb Haemost; 2008 May; 99(5):916-24. PubMed ID: 18449422
    [Abstract] [Full Text] [Related]

  • 14. Managing patients with von Willebrand disease type 1, 2 and 3 with desmopressin and von Willebrand factor-factor VIII concentrate in surgical settings.
    Michiels JJ, van Vliet HH, Berneman Z, Schroyens W, Gadisseur A.
    Acta Haematol; 2009 May; 121(2-3):167-76. PubMed ID: 19506363
    [Abstract] [Full Text] [Related]

  • 15. Identification of a new type 2M von Willebrand disease mutation also at position 1324 of von Willebrand factor.
    Hilbert L, Fressinaud E, Ribba AS, Meyer D, Mazurier C, INSERM network on molecular abnormalities in von Willebrand disease.
    Thromb Haemost; 2002 Apr; 87(4):635-40. PubMed ID: 12008946
    [Abstract] [Full Text] [Related]

  • 16. The arginine-552-cysteine (R1315C) mutation within the A1 loop of von Willebrand factor induces an abnormal folding with a loss of function resulting in type 2A-like phenotype of von Willebrand disease: study of 10 patients and mutated recombinant von Willebrand factor.
    Ribba AN, Hilbert L, Lavergne JM, Fressinaud E, Boyer-Neumann C, Ternisien C, Juhan-Vague I, Goudemand J, Girma J, Mazurier C, Meyer D.
    Blood; 2001 Feb 15; 97(4):952-9. PubMed ID: 11159522
    [Abstract] [Full Text] [Related]

  • 17. Laboratory diagnosis and molecular basis of mild von Willebrand disease type 1.
    Michiels JJ, Berneman Z, Gadisseur A, van der Planken M, Schroyens W, van Vliet HH.
    Acta Haematol; 2009 Feb 15; 121(2-3):85-97. PubMed ID: 19506353
    [Abstract] [Full Text] [Related]

  • 18. Response of von Willebrand factor parameters to desmopressin in patients with type 1 and type 2 congenital von Willebrand disease: diagnostic and therapeutic implications.
    Michiels JJ, van de Velde A, van Vliet HH, van der Planken M, Schroyens W, Berneman Z.
    Semin Thromb Hemost; 2002 Apr 15; 28(2):111-32. PubMed ID: 11992235
    [Abstract] [Full Text] [Related]

  • 19. Defect of heparin binding in plasma and recombinant von Willebrand factor with type 2 von Willebrand disease mutations.
    Rastegar-Lari G, Ajzenberg N, Ribba AS, Vereycken-Holler V, Legendre P, Villoutreix B, Meyer D, Baruch D.
    Thromb Haemost; 2001 Dec 15; 86(6):1459-65. PubMed ID: 11776314
    [Abstract] [Full Text] [Related]

  • 20. Biochemical characterization of a recombinant von Willebrand factor (VWF) with combined type 2B and type 1 defects in the VWF gene in two patients with a type 2A phenotype of von Willebrand disease.
    Baronciani L, Federici AB, Cozzi G, Canciani MT, Mannucci PM.
    J Thromb Haemost; 2007 Feb 15; 5(2):282-8. PubMed ID: 17155947
    [Abstract] [Full Text] [Related]

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