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182 related items for PubMed ID: 12588349

  • 1. Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity.
    Hilbert L, Jorieux S, Proulle V, Favier R, Goudemand J, Parquet A, Meyer D, Fressinaud E, Mazurier C, INSERM Network on Molecular Abnormalities in von Willebrand Disease.
    Br J Haematol; 2003 Feb; 120(4):627-32. PubMed ID: 12588349
    [Abstract] [Full Text] [Related]

  • 2. A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization.
    Jorieux S, Gaucher C, Goudemand J, Mazurier C.
    Blood; 1998 Dec 15; 92(12):4663-70. PubMed ID: 9845532
    [Abstract] [Full Text] [Related]

  • 3. Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide.
    Hilbert L, Nurden P, Caron C, Nurden AT, Goudemand J, Meyer D, Fressinaud E, Mazurier C, INSERM Network on Molecular Abnormalities in von Willebrand Disease.
    Thromb Haemost; 2006 Sep 15; 96(3):290-4. PubMed ID: 16953269
    [Abstract] [Full Text] [Related]

  • 4. The D' domain of von Willebrand factor requires the presence of the D3 domain for optimal factor VIII binding.
    Przeradzka MA, Meems H, van der Zwaan C, Ebberink EHTM, van den Biggelaar M, Mertens K, Meijer AB.
    Biochem J; 2018 Sep 11; 475(17):2819-2830. PubMed ID: 30111575
    [Abstract] [Full Text] [Related]

  • 5. 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 11; 127(2):184-9. PubMed ID: 15461624
    [Abstract] [Full Text] [Related]

  • 6. Diagnosis of von Willebrand disease type 2N: a simplified method for measurement of factor VIII binding to von Willebrand factor.
    Miller CH, Kelley L, Green D.
    Am J Hematol; 1998 Aug 11; 58(4):311-8. PubMed ID: 9692396
    [Abstract] [Full Text] [Related]

  • 7. The defective interaction between von Willebrand factor and factor VIII in a patient with type 1 von Willebrand disease is caused by substitution of Arg19 and His54 in mature von Willebrand factor.
    Kroner PA, Foster PA, Fahs SA, Montgomery RR.
    Blood; 1996 Feb 01; 87(3):1013-21. PubMed ID: 8562925
    [Abstract] [Full Text] [Related]

  • 8. Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization.
    Schneppenheim R, Lenk H, Obser T, Oldenburg J, Oyen F, Schneppenheim S, Schwaab R, Will K, Budde U.
    Thromb Haemost; 2004 Jul 01; 92(1):36-41. PubMed ID: 15213842
    [Abstract] [Full Text] [Related]

  • 9. 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 Jul 01; 121(2-3):119-27. PubMed ID: 19506358
    [Abstract] [Full Text] [Related]

  • 10. The mutation Arg (53)----Trp causes von Willebrand disease Normandy by abolishing binding to factor VIII. Studies with recombinant von Willebrand factor.
    Jorieux S, Tuley EA, Gaucher C, Mazurier C, Sadler JE.
    Blood; 1992 Feb 01; 79(3):563-7. PubMed ID: 1732004
    [Abstract] [Full Text] [Related]

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

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

  • 13. Conformational changes in the D' domain of von Willebrand factor induced by CYS 25 and CYS 95 mutations lead to factor VIII binding defect and multimeric impairment.
    Jorieux S, Fressinaud E, Goudemand J, Gaucher C, Meyer D, Mazurier C.
    Blood; 2000 May 15; 95(10):3139-45. PubMed ID: 10807780
    [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 15; 8(9):2011-6. PubMed ID: 20586924
    [Abstract] [Full Text] [Related]

  • 15. The evaluation of factor VIII binding activity of von Willebrand factor by means of an ELISA method: significance and practical implications.
    Casonato A, Pontara E, Zerbinati P, Zucchetto A, Girolami A.
    Am J Clin Pathol; 1998 Mar 15; 109(3):347-52. PubMed ID: 9495210
    [Abstract] [Full Text] [Related]

  • 16. N1421K mutation in the glycoprotein Ib binding domain impairs ristocetin- and botrocetin-mediated binding of von Willebrand factor to platelets.
    Lanke E, Kristoffersson AC, Isaksson C, Holmberg L, Lethagen S.
    Eur J Haematol; 2008 Nov 15; 81(5):384-90. PubMed ID: 18637125
    [Abstract] [Full Text] [Related]

  • 17. Factor VIII-von Willebrand factor binding defects in autosomal recessive von Willebrand disease type Normandy and in mild hemophilia A. New insights into factor VIII-von Willebrand factor interactions.
    Jacquemin M.
    Acta Haematol; 2009 Nov 15; 121(2-3):102-5. PubMed ID: 19506355
    [Abstract] [Full Text] [Related]

  • 18. Abnormal von Willebrand factor secretion, factor VIII stabilization and thrombus dynamics in type 2N von Willebrand disease mice.
    Swystun LL, Georgescu I, Mewburn J, Deforest M, Nesbitt K, Hebert K, Dwyer C, Brown C, Notley C, Lillicrap D.
    J Thromb Haemost; 2017 Aug 15; 15(8):1607-1619. PubMed ID: 28581694
    [Abstract] [Full Text] [Related]

  • 19. Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease.
    Gaucher C, Mercier B, Jorieux S, Oufkir D, Mazurier C.
    Br J Haematol; 1991 Aug 15; 78(4):506-14. PubMed ID: 1832934
    [Abstract] [Full Text] [Related]

  • 20. Abnormal binding of factor VIII is linked with the substitution of glutamine for arginine 91 in von Willebrand factor in a variant form of von Willebrand disease.
    Kroner PA, Friedman KD, Fahs SA, Scott JP, Montgomery RR.
    J Biol Chem; 1991 Oct 15; 266(29):19146-9. PubMed ID: 1918030
    [Abstract] [Full Text] [Related]

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