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336 related items for PubMed ID: 8839833

  • 1. 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
    [Abstract] [Full Text] [Related]

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

  • 3. 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]

  • 4. Mutations in von Willebrand factor multimerization domains are not a common cause of classical type 1 von Willebrand disease.
    Keeney S, Cumming A, Hay C.
    Thromb Haemost; 1999 Nov 01; 82(5):1446-50. PubMed ID: 10595636
    [Abstract] [Full Text] [Related]

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

  • 6. Molecular genetics of type 2 von Willebrand disease.
    Fressinaud E, Mazurier C, Meyer D.
    Int J Hematol; 2002 Jan 01; 75(1):9-18. PubMed ID: 11843298
    [Abstract] [Full Text] [Related]

  • 7. Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease.
    Schneppenheim R, Budde U, Obser T, Brassard J, Mainusch K, Ruggeri ZM, Schneppenheim S, Schwaab R, Oldenburg J.
    Blood; 2001 Apr 01; 97(7):2059-66. PubMed ID: 11264172
    [Abstract] [Full Text] [Related]

  • 8. Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins.
    Bodó I, Katsumi A, Tuley EA, Eikenboom JC, Dong Z, Sadler JE.
    Blood; 2001 Nov 15; 98(10):2973-9. PubMed ID: 11698279
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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]

  • 11. New variant of von Willebrand disease type II with markedly increased levels of von Willebrand factor antigen and dominant mode of inheritance: von Willebrand disease type IIC Miami.
    Ledford MR, Rabinowitz I, Sadler JE, Kent JW, Civantos F.
    Blood; 1993 Jul 01; 82(1):169-75. PubMed ID: 8324222
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 98(6):1182-7. PubMed ID: 18064311
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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 01; 8(9):2011-6. PubMed ID: 20586924
    [Abstract] [Full Text] [Related]

  • 15. Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease.
    Chen J, Hinckley JD, Haberichter S, Jacobi P, Montgomery R, Flood VH, Wong R, Interlandi G, Chung DW, López JA, Di Paola J.
    Blood; 2015 Jul 09; 126(2):262-9. PubMed ID: 26019279
    [Abstract] [Full Text] [Related]

  • 16. Comparative analysis of type 2b von Willebrand disease mutations: implications for the mechanism of von Willebrand factor binding to platelets.
    Cooney KA, Ginsburg D.
    Blood; 1996 Mar 15; 87(6):2322-8. PubMed ID: 8630394
    [Abstract] [Full Text] [Related]

  • 17. Type IIB mutation His-505-->Asp implicates a new segment in the control of von Willebrand factor binding to platelet glycoprotein Ib.
    Rabinowitz I, Randi AM, Shindler KS, Tuley EA, Rustagi PK, Sadler JE.
    J Biol Chem; 1993 Sep 25; 268(27):20497-501. PubMed ID: 8376405
    [Abstract] [Full Text] [Related]

  • 18. Expressed full-length von Willebrand factor containing missense mutations linked to type IIB von Willebrand disease shows enhanced binding to platelets.
    Kroner PA, Kluessendorf ML, Scott JP, Montgomery RR.
    Blood; 1992 Apr 15; 79(8):2048-55. PubMed ID: 1373334
    [Abstract] [Full Text] [Related]

  • 19. Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease.
    O'Brien LA, James PD, Othman M, Berber E, Cameron C, Notley CR, Hegadorn CA, Sutherland JJ, Hough C, Rivard GE, O'Shaunessey D, Lillicrap D, Association of Hemophilia Clinic Directors of Canada.
    Blood; 2003 Jul 15; 102(2):549-57. PubMed ID: 12649144
    [Abstract] [Full Text] [Related]

  • 20. New mutations in exon 28 of the von Willebrand factor gene detected in patients with different types of von Willebrand's disease.
    Casaña P, Martínez F, Haya S, Tavares A, Aznar JA.
    Haematologica; 2001 Apr 15; 86(4):414-9. PubMed ID: 11325649
    [Abstract] [Full Text] [Related]

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