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188 related items for PubMed ID: 9684781

  • 1. Type 2N von Willebrand disease: rapid genetic diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F)--detection of a novel candidate type 2N mutation: C2810T (R854W).
    Bowen DJ, Standen GR, Mazurier C, Gaucher C, Cumming A, Keeney S, Bidwell J.
    Thromb Haemost; 1998 Jul; 80(1):32-6. PubMed ID: 9684781
    [Abstract] [Full Text] [Related]

  • 2. 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; 96(3):290-4. PubMed ID: 16953269
    [Abstract] [Full Text] [Related]

  • 3. Molecular genetics of von Willebrand disease.
    Mazurier C, Ribba AS, Gaucher C, Meyer D.
    Ann Genet; 1998 Sep; 41(1):34-43. PubMed ID: 9599650
    [Abstract] [Full Text] [Related]

  • 4. A common splice site mutation is shared by two families with different type 2N von Willebrand disease mutations.
    Nesbitt IM, Hampton KK, Preston FE, Peake IR, Goodeve AC.
    Thromb Haemost; 1999 Sep; 82(3):1061-4. PubMed ID: 10494764
    [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; 127(2):184-9. PubMed ID: 15461624
    [Abstract] [Full Text] [Related]

  • 6. Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1.
    Schneppenheim R, Budde U, Krey S, Drewke E, Bergmann F, Lechler E, Oldenburg J, Schwaab R.
    Thromb Haemost; 1996 Oct; 76(4):598-602. PubMed ID: 8903002
    [Abstract] [Full Text] [Related]

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

  • 8. 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; 75(6):959-64. PubMed ID: 8822593
    [Abstract] [Full Text] [Related]

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

  • 10. Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB.
    Piétu G, Ribba AS, de Paillette L, Chérel G, Lavergne JM, Bahnak BR, Meyer D.
    Blood Coagul Fibrinolysis; 1992 Aug; 3(4):415-21. PubMed ID: 1420817
    [Abstract] [Full Text] [Related]

  • 11. 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; 82(5):1446-50. PubMed ID: 10595636
    [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 Nov; 121(2-3):71-84. PubMed ID: 19506352
    [Abstract] [Full Text] [Related]

  • 13. 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; 121(2-3):102-5. PubMed ID: 19506355
    [Abstract] [Full Text] [Related]

  • 14. Three distinct candidate point mutations of the von Willebrand factor gene in four patients with type IIA von Willebrand disease.
    Sugiura I, Matsushita T, Tanimoto M, Takahashi I, Yamazaki T, Yamamoto K, Takamatsu J, Kamiya T, Saito H.
    Thromb Haemost; 1992 Jun 01; 67(6):612-7. PubMed ID: 1380739
    [Abstract] [Full Text] [Related]

  • 15. Identification of von Willebrand disease type 2N (Normandy) in Australia: a cross-laboratory investigation using different methods.
    Rodgers SE, Lerda NV, Favaloro EJ, Duncan EM, Casey GJ, Quinn DM, Hertzberg M, Lloyd JV.
    Am J Clin Pathol; 2002 Aug 01; 118(2):269-76. PubMed ID: 12162689
    [Abstract] [Full Text] [Related]

  • 16. Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin.
    Zhang ZP, Blombäck M, Egberg N, Falk G, Anvret M.
    Genomics; 1994 May 01; 21(1):188-93. PubMed ID: 8088787
    [Abstract] [Full Text] [Related]

  • 17. Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: from the patient to the gene. INSERM Network on Molecular Abnormalities in von Willebrand Disease.
    Meyer D, Fressinaud E, Gaucher C, Lavergne JM, Hilbert L, Ribba AS, Jorieux S, Mazurier C.
    Thromb Haemost; 1997 Jul 01; 78(1):451-6. PubMed ID: 9198195
    [Abstract] [Full Text] [Related]

  • 18. Laboratory diagnosis and molecular basis of mild von Willebrand disease type 1.
    Michiels JJ, Berneman Z, Gadisseur A, van der Planken M, Schroyens W, van Vliet HH.
    Acta Haematol; 2009 Jul 01; 121(2-3):85-97. PubMed ID: 19506353
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 12(3):277-95. PubMed ID: 16959681
    [Abstract] [Full Text] [Related]

  • 20. Classification and characterization of hereditary types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (unclassifiable) von Willebrand disease.
    Michiels JJ, Berneman Z, Gadisseur A, van der Planken M, Schroyens W, van de Velde A, van Vliet H.
    Clin Appl Thromb Hemost; 2006 Oct 01; 12(4):397-420. PubMed ID: 17000885
    [Abstract] [Full Text] [Related]

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