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219 related items for PubMed ID: 17155947

  • 1. 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; 5(2):282-8. PubMed ID: 17155947
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  • 2. Platelet activation and aggregation induced by recombinant von Willebrand factors reproducing four type 2B von Willebrand disease missense mutations.
    de Romeuf C, Hilbert L, Mazurier C.
    Thromb Haemost; 1998 Jan; 79(1):211-6. PubMed ID: 9459349
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  • 6. The co-influence of VWD type 2B/2M mutations in the A1 domain and platelet GPIbα on the rate of cleavage to VWF by ADAMTS13.
    Ma Z, Su J, Zhang J, Ling J, Yin J, Bai X, Ruan C.
    Thromb Res; 2015 Nov; 136(5):987-95. PubMed ID: 26345337
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  • 7. Effect of recombinant von Willebrand factor reproducing type 2B or type 2M mutations on shear-induced platelet aggregation.
    Ajzenberg N, Ribba AS, Rastegar-Lari G, Meyer D, Baruch D.
    Blood; 2000 Jun 15; 95(12):3796-803. PubMed ID: 10845912
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  • 8. 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 15; 95(5):776-81. PubMed ID: 16676067
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  • 9. Recombinant von Willebrand factor Arg578-->Gln. A type IIB von Willebrand disease mutation affects binding to glycoprotein Ib but not to collagen or heparin.
    Randi AM, Jorieux S, Tuley EA, Mazurier C, Sadler JE.
    J Biol Chem; 1992 Oct 15; 267(29):21187-92. PubMed ID: 1400429
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  • 10. A novel von Willebrand factor mutation (I1372S) associated with type 2B-like von Willebrand disease: an elusive phenotype and a difficult diagnosis.
    Casonato A, Sartorello F, Pontara E, Gallinaro L, Bertomoro A, Grazia Cattini M, Daidone V, Szukowska M, Pagnan A.
    Thromb Haemost; 2007 Dec 15; 98(6):1182-7. PubMed ID: 18064311
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  • 11. Type 2A (IIH) von Willebrand disease is due to mutations that affect von Willebrand factor multimerization.
    Baronciani L, Federici AB, Punzo M, Solimando M, Cozzi G, La Marca S, Rubini V, Canciani MT, Mannucci PM.
    J Thromb Haemost; 2009 Jul 15; 7(7):1114-22. PubMed ID: 19422453
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  • 12. Effect of von Willebrand disease type 2B and type 2M mutations on the susceptibility of von Willebrand factor to ADAMTS-13.
    Rayes J, Hommais A, Legendre P, Tout H, Veyradier A, Obert B, Ribba AS, Girma JP.
    J Thromb Haemost; 2007 Feb 15; 5(2):321-8. PubMed ID: 17087728
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  • 13. Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF.
    Hilbert L, Gaucher C, Mazurier C.
    Blood; 1995 Aug 01; 86(3):1010-8. PubMed ID: 7620154
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  • 14. 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 Aug 01; 121(2-3):128-38. PubMed ID: 19506359
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  • 15. 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 01; 120(4):643-51. PubMed ID: 12588351
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  • 16. 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
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  • 17. Molecular genetics of von Willebrand disease.
    Mazurier C, Ribba AS, Gaucher C, Meyer D.
    Ann Genet; 1998 Mar 01; 41(1):34-43. PubMed ID: 9599650
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  • 18. A novel platelet-type von Willebrand disease mutation (GP1BA p.Met255Ile) associated with type 2B "Malmö/New York" von Willebrand disease.
    Lavenu-Bombled C, Guitton C, Dupuis A, Baas MJ, Desconclois C, Dreyfus M, Li R, Caron C, Gachet C, Fressinaud E, Lanza F.
    Thromb Haemost; 2016 Nov 30; 116(6):1070-1078. PubMed ID: 27683759
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  • 19. Platelet glycoprotein Ibalpha forms catch bonds with human WT vWF but not with type 2B von Willebrand disease vWF.
    Yago T, Lou J, Wu T, Yang J, Miner JJ, Coburn L, López JA, Cruz MA, Dong JF, McIntire LV, McEver RP, Zhu C.
    J Clin Invest; 2008 Sep 30; 118(9):3195-207. PubMed ID: 18725999
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  • 20. 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
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