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Journal Abstract Search

430 related items for PubMed ID: 17393013

  • 1. 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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  • 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 Apr; 121(2-3):128-38. PubMed ID: 19506359
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  • 3. 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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  • 4. Differential effects of the loss of intrachain- versus interchain-disulfide bonds in the cystine-knot domain of von Willebrand factor on the clinical phenotype of von Willebrand disease.
    Tjernberg P, Vos HL, Spaargaren-van Riel CC, Luken BM, Voorberg J, Bertina RM, Eikenboom JC.
    Thromb Haemost; 2006 Dec; 96(6):717-24. PubMed ID: 17139364
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  • 6. A novel type 2A (Group II) von Willebrand disease mutation (L1503Q) associated with loss of the highest molecular weight von Willebrand factor multimers.
    O'Brien LA, Sutherland JJ, Hegadorn C, Benford K, Racz H, Rapson D, Hough C, Lillicrap D.
    J Thromb Haemost; 2004 Jul; 2(7):1135-42. PubMed ID: 15219197
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  • 7. Laboratory diagnosis and molecular classification of von Willebrand disease.
    Gadisseur A, Hermans C, Berneman Z, Schroyens W, Deckmyn H, Michiels JJ.
    Acta Haematol; 2009 Jul; 121(2-3):71-84. PubMed ID: 19506352
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  • 8. A new variant of von Willebrand's disease (type I Padua): doublet-organized plasma von Willebrand factor oligomers in the presence of all size multimers.
    Casonato A, Pontara E, Dannhäuser D, Bertomoro A, Sartori MT, Girolami A.
    Haematologia (Budap); 1994 Jul; 26(2):97-109. PubMed ID: 7890268
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  • 9. 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; 98(6):1182-7. PubMed ID: 18064311
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  • 16. Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor.
    Eikenboom JC, Matsushita T, Reitsma PH, Tuley EA, Castaman G, Briët E, Sadler JE.
    Blood; 1996 Oct 01; 88(7):2433-41. PubMed ID: 8839833
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  • 17. 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 01; 99(5):916-24. PubMed ID: 18449422
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  • 18. 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 01; 133(4):409-18. PubMed ID: 16643449
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  • 19. C1584 in von Willebrand factor is necessary for enhanced proteolysis by ADAMTS13 in vitro.
    Keeney S, Grundy P, Collins PW, Bowen DJ.
    Haemophilia; 2007 Jul 01; 13(4):405-8. PubMed ID: 17610557
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  • 20. A new L1446P mutation is responsible for impaired von Willebrand factor synthesis, structure, and function.
    Casonato A, Cattini MG, Soldera C, Marcato S, Sartorello F, Pontara E, Pagnan A.
    J Lab Clin Med; 2004 Nov 01; 144(5):254-9. PubMed ID: 15570243
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