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Journal Abstract Search

233 related items for PubMed ID: 16643449

  • 1. Homozygous C2362F von Willebrand factor induces intracellular retention of mutant von Willebrand factor resulting in autosomal recessive severe von Willebrand disease.
    Tjernberg P, Castaman G, Vos HL, Bertina RM, Eikenboom JC.
    Br J Haematol; 2006 May; 133(4):409-18. PubMed ID: 16643449
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  • 2. C2362F mutation gives rise to an ADAMTS13-resistant von Willebrand factor.
    Casonato A, Pontara E, Battiston M, Morpurgo M, Cattini MG, Casarin E, Saga G, Daidone V, De Marco L.
    Thromb Haemost; 2013 Jun; 109(6):999-1006. PubMed ID: 23446343
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  • 3. Higher and lower active circulating VWF levels: different facets of von Willebrand disease.
    Casonato A, Pontara E, Morpurgo M, Sartorello F, De Groot PG, Cattini MG, Daidone V, De Marco L.
    Br J Haematol; 2015 Dec; 171(5):845-53. PubMed ID: 26456374
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  • 5. 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
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  • 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 May; 121(2-3):71-84. PubMed ID: 19506352
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  • 8. Heightened proteolysis of the von Willebrand factor subunit in patients with von Willebrand disease hemizygous or homozygous for the C2362F mutation.
    Castaman G, Eikenboom JC, Lattuada A, Mannucci PM, Rodeghiero F.
    Br J Haematol; 2000 Jan; 108(1):188-90. PubMed ID: 10651743
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  • 9. 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 Jan; 121(2-3):128-38. PubMed ID: 19506359
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  • 10. 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
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  • 11. Further evidence for recessive inheritance of von Willebrand disease with abnormal binding of von Willebrand factor to factor VIII.
    López-Fernández MF, Blanco-López MJ, Castiñeira MP, Batlle J.
    Am J Hematol; 1992 May; 40(1):20-7. PubMed ID: 1566742
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  • 12. Characterization of recessive severe type 1 and 3 von Willebrand Disease (VWD), asymptomatic heterozygous carriers versus bloodgroup O-related von Willebrand factor deficiency, and dominant type 1 VWD.
    Michiels JJ, Berneman Z, Gadisseur A, van der Planken M, Schroyens W, van de Velde A, van Vliet H.
    Clin Appl Thromb Hemost; 2006 Jul; 12(3):277-95. PubMed ID: 16959681
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  • 17. Altered von Willebrand factor subunit proteolysis and multimer processing associated with the Cys2362Phe mutation in the B2 domain.
    Casonato A, De Marco L, Gallinaro L, Sztukowska M, Mazzuccato M, Battiston M, Pagnan A, Ruggeri ZM.
    Thromb Haemost; 2007 Apr; 97(4):527-33. PubMed ID: 17393013
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  • 19. Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype.
    Castaman G, Giacomelli SH, Jacobi P, Obser T, Budde U, Rodeghiero F, Haberichter SL, Schneppenheim R.
    J Thromb Haemost; 2010 Sep; 8(9):2011-6. PubMed ID: 20586924
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  • 20. Factor VIII:C increases after desmopressin in a subgroup of patients with autosomal recessive severe von Willebrand disease.
    Castaman G, Lattuada A, Mannucci PM, Rodeghiero F.
    Br J Haematol; 1995 Jan; 89(1):147-51. PubMed ID: 7833254
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