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Journal Abstract Search

208 related items for PubMed ID: 20586924

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. 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
    [Abstract] [Full Text] [Related]

  • 23. Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene.
    Hilbert L, Jorieux S, Fontenay-Roupie M, Guicheteau M, Fressinaud E, Meyer D, Mazurier C, INSERM Network on Molecular Abnormalities in von Willebrand Disease.
    Br J Haematol; 2004 Oct; 127(2):184-9. PubMed ID: 15461624
    [Abstract] [Full Text] [Related]

  • 24. Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor.
    Allen S, Abuzenadah AM, Blagg JL, Hinks J, Nesbitt IM, Goodeve AC, Gursel T, Ingerslev J, Peake IR, Daly ME.
    Blood; 2000 Mar 15; 95(6):2000-7. PubMed ID: 10706867
    [Abstract] [Full Text] [Related]

  • 25. Characterisation of type 2N von Willebrand disease using phenotypic and molecular techniques.
    Nesbitt IM, Goodeve AC, Guilliatt AM, Makris M, Preston FE, Peake IR.
    Thromb Haemost; 1996 Jun 15; 75(6):959-64. PubMed ID: 8822593
    [Abstract] [Full Text] [Related]

  • 26. Type 2N von Willebrand disease: Characterization and diagnostic difficulties.
    Casonato A, Galletta E, Sarolo L, Daidone V.
    Haemophilia; 2018 Jan 15; 24(1):134-140. PubMed ID: 29115006
    [Abstract] [Full Text] [Related]

  • 27. 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 15; 96(6):717-24. PubMed ID: 17139364
    [Abstract] [Full Text] [Related]

  • 28. 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 15; 2(7):1135-42. PubMed ID: 15219197
    [Abstract] [Full Text] [Related]

  • 29. Storage and secretion of naturally occurring von Willebrand factor A domain variants.
    Groeneveld DJ, Wang JW, Mourik MJ, Dirven RJ, Valentijn KM, Voorberg J, Reitsma PH, Eikenboom J.
    Br J Haematol; 2014 Nov 15; 167(4):529-40. PubMed ID: 25103891
    [Abstract] [Full Text] [Related]

  • 30. 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 15; 12(3):277-95. PubMed ID: 16959681
    [Abstract] [Full Text] [Related]

  • 31. 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 15; 171(5):845-53. PubMed ID: 26456374
    [Abstract] [Full Text] [Related]

  • 32. The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients.
    Pagliari MT, Baronciani L, Cordiglieri C, Colpani P, Cozzi G, Siboni SM, Peyvandi F.
    Haemophilia; 2022 Mar 15; 28(2):292-300. PubMed ID: 35064738
    [Abstract] [Full Text] [Related]

  • 33. 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 15; 97(4):527-33. PubMed ID: 17393013
    [Abstract] [Full Text] [Related]

  • 34. 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 15; 31(5):577-601. PubMed ID: 16276467
    [Abstract] [Full Text] [Related]

  • 35. Identification and functional analysis of a novel von Willebrand factor mutation in a family with type 2A von Willebrand disease.
    Dong J, Zhao X, Shi S, Ma Z, Liu M, Wu Q, Ruan C, Dong N.
    PLoS One; 2012 Nov 15; 7(3):e33263. PubMed ID: 22479377
    [Abstract] [Full Text] [Related]

  • 36. Re-establishment of VWF-dependent Weibel-Palade bodies in VWD endothelial cells.
    Haberichter SL, Merricks EP, Fahs SA, Christopherson PA, Nichols TC, Montgomery RR.
    Blood; 2005 Jan 01; 105(1):145-52. PubMed ID: 15331450
    [Abstract] [Full Text] [Related]

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  • 38. 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]

  • 39. Loss of cysteine 584 impairs the storage and release, but not the synthesis of von Willebrand factor.
    Daidone V, Barbon G, Pontara E, Cattini GM, Gallinaro L, Zampese E, Pizzo P, Casonato A.
    Thromb Haemost; 2014 Dec 01; 112(6):1159-66. PubMed ID: 25230768
    [Abstract] [Full Text] [Related]

  • 40. An Arg760Cys mutation in the consensus sequence of the von Willebrand factor propeptide cleavage site is responsible for a new von Willebrand disease variant.
    Casonato A, Sartorello F, Cattini MG, Pontara E, Soldera C, Bertomoro A, Girolami A.
    Blood; 2003 Jan 01; 101(1):151-6. PubMed ID: 12393698
    [Abstract] [Full Text] [Related]

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