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429 related items for PubMed ID: 10959688

  • 1. Type 2M vWD resulting from a lysine deletion within a four lysine residue repeat in the A1 loop of von Willebrand factor.
    Hilbert L, Jenkins PV, Gaucher C, Meriane E, Collins PW, Pasi KJ, Mazurier C.
    Thromb Haemost; 2000 Aug; 84(2):188-94. PubMed ID: 10959688
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. A new mutation, S1285F, within the A1 loop of von Willebrand factor induces a conformational change in A1 loop with abnormal binding to platelet GPIb and botrocetin causing type 2M von Willebrand disease.
    Stepanian A, Ribba AS, Lavergne JM, Fressinaud E, Juhan-Vague I, Mazurier C, Girma JP, Meyer D.
    Br J Haematol; 2003 Feb; 120(4):643-51. PubMed ID: 12588351
    [Abstract] [Full Text] [Related]

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

  • 5. Type 2M von Willebrand disease: F606I and I662F mutations in the glycoprotein Ib binding domain selectively impair ristocetin- but not botrocetin-mediated binding of von Willebrand factor to platelets.
    Hillery CA, Mancuso DJ, Evan Sadler J, Ponder JW, Jozwiak MA, Christopherson PA, Cox Gill J, Paul Scott J, Montgomery RR.
    Blood; 1998 Mar 01; 91(5):1572-81. PubMed ID: 9473222
    [Abstract] [Full Text] [Related]

  • 6. Laboratory diagnosis and molecular classification of von Willebrand disease.
    Gadisseur A, Hermans C, Berneman Z, Schroyens W, Deckmyn H, Michiels JJ.
    Acta Haematol; 2009 Mar 01; 121(2-3):71-84. PubMed ID: 19506352
    [Abstract] [Full Text] [Related]

  • 7. Type 2M:Milwaukee-1 von Willebrand disease: an in-frame deletion in the Cys509-Cys695 loop of the von Willebrand factor A1 domain causes deficient binding of von Willebrand factor to platelets.
    Mancuso DJ, Kroner PA, Christopherson PA, Vokac EA, Gill JC, Montgomery RR.
    Blood; 1996 Oct 01; 88(7):2559-68. PubMed ID: 8839848
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 5(2):282-8. PubMed ID: 17155947
    [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 Feb 01; 121(2-3):145-53. PubMed ID: 19506361
    [Abstract] [Full Text] [Related]

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  • 11. 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 Feb 01; 121(2-3):128-38. PubMed ID: 19506359
    [Abstract] [Full Text] [Related]

  • 12. 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 Feb 01; 121(2-3):119-27. PubMed ID: 19506358
    [Abstract] [Full Text] [Related]

  • 13. N1421K mutation in the glycoprotein Ib binding domain impairs ristocetin- and botrocetin-mediated binding of von Willebrand factor to platelets.
    Lanke E, Kristoffersson AC, Isaksson C, Holmberg L, Lethagen S.
    Eur J Haematol; 2008 Nov 01; 81(5):384-90. PubMed ID: 18637125
    [Abstract] [Full Text] [Related]

  • 14. Impaired dimerization of von Willebrand factor subunit due to mutation A2801D in the CK domain results in a recessive type 2A subtype IID von Willebrand disease.
    Hommais A, Stépanian A, Fressinaud E, Mazurier C, Pouymayou K, Meyer D, Girma JP, Ribba AS.
    Thromb Haemost; 2006 May 01; 95(5):776-81. PubMed ID: 16676067
    [Abstract] [Full Text] [Related]

  • 15. Analysis of the structure and function of the von Willebrand factor A1 domain using targeted deletions and alanine-scanning mutagenesis.
    Kroner PA, Frey AB.
    Biochemistry; 1996 Oct 15; 35(41):13460-8. PubMed ID: 8873615
    [Abstract] [Full Text] [Related]

  • 16. Mapping and functional studies of two alloantibodies developed in patients with type 3 von Willebrand disease.
    Tout H, Obert B, Houllier A, Fressinaud E, Rothschild C, Meyer D, Girma JP.
    Thromb Haemost; 2000 Feb 15; 83(2):274-81. PubMed ID: 10739386
    [Abstract] [Full Text] [Related]

  • 17. Ser968Thr mutation within the A3 domain of von Willebrand factor (VWF) in two related patients leads to a defective binding of VWF to collagen.
    Ribba AS, Loisel I, Lavergne JM, Juhan-Vague I, Obert B, Cherel G, Meyer D, Girma JP.
    Thromb Haemost; 2001 Sep 15; 86(3):848-54. PubMed ID: 11583318
    [Abstract] [Full Text] [Related]

  • 18. von Willebrand factor without the A2 domain is resistant to proteolysis.
    Lankhof H, Damas C, Schiphorst ME, Ijsseldijk MJ, Bracke M, Furlan M, Tsai HM, de Groot PG, Sixma JJ, Vink T.
    Thromb Haemost; 1997 May 15; 77(5):1008-13. PubMed ID: 9184419
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Purified A2 domain of von Willebrand factor binds to the active conformation of von Willebrand factor and blocks the interaction with platelet glycoprotein Ibalpha.
    Martin C, Morales LD, Cruz MA.
    J Thromb Haemost; 2007 Jul 15; 5(7):1363-70. PubMed ID: 17389010
    [Abstract] [Full Text] [Related]

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