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333 related items for PubMed ID: 1732004

  • 21. 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]

  • 22. 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(8):1607-1619. PubMed ID: 28581694
    [Abstract] [Full Text] [Related]

  • 23. A novel case of compound heterozygosity with "Normandy"/type I von Willebrand disease (vWD). Direct demonstration of the segregation of one allele with a defective expression at the mRNA level causing type I vWD.
    Siguret V, Lavergne JM, Chérel G, Boyer-Neumann C, Ribba AS, Bahnak BR, Meyer D, Piétu G.
    Hum Genet; 1994 Feb; 93(2):95-102. PubMed ID: 7906671
    [Abstract] [Full Text] [Related]

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

  • 25. 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]

  • 26. 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 01; 96(3):290-4. PubMed ID: 16953269
    [Abstract] [Full Text] [Related]

  • 27. 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]

  • 28. Reduced von Willebrand factor survival in type Vicenza von Willebrand disease.
    Casonato A, Pontara E, Sartorello F, Cattini MG, Sartori MT, Padrini R, Girolami A.
    Blood; 2002 Jan 01; 99(1):180-4. PubMed ID: 11756169
    [Abstract] [Full Text] [Related]

  • 29. von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels.
    Hickson N, Hampshire D, Winship P, Goudemand J, Schneppenheim R, Budde U, Castaman G, Rodeghiero F, Federici AB, James P, Peake I, Eikenboom J, Goodeve A, MCMDM-1VWD and ZPMCB-VWD study groups.
    J Thromb Haemost; 2010 Sep 01; 8(9):1986-93. PubMed ID: 20492463
    [Abstract] [Full Text] [Related]

  • 30. Evaluation of von Willebrand factor phenotypes and genotypes in Hemophilia A patients with and without identified F8 mutations.
    Boylan B, Rice AS, De Staercke C, Eyster ME, Yaish HM, Knoll CM, Bean CJ, Miller CH, Hemophilia Inhibitor Research Study Investigators.
    J Thromb Haemost; 2015 Jun 01; 13(6):1036-42. PubMed ID: 25780857
    [Abstract] [Full Text] [Related]

  • 31. 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]

  • 32. Recombinant von Willebrand factor Arg578-->Gln. A type IIB von Willebrand disease mutation affects binding to glycoprotein Ib but not to collagen or heparin.
    Randi AM, Jorieux S, Tuley EA, Mazurier C, Sadler JE.
    J Biol Chem; 1992 Oct 15; 267(29):21187-92. PubMed ID: 1400429
    [Abstract] [Full Text] [Related]

  • 33. 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]

  • 34. 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]

  • 35. 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 11; 81(5):384-90. PubMed ID: 18637125
    [Abstract] [Full Text] [Related]

  • 36. 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]

  • 37. 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 01; 127(2):184-9. PubMed ID: 15461624
    [Abstract] [Full Text] [Related]

  • 38. A new von Willebrand factor (vWF) defect in a patient with factor VIII (FVIII) deficiency but with normal levels and multimeric patterns of both plasma and platelet vWF. Characterization of abnormal vWF/FVIII interaction.
    Mazurier C, Dieval J, Jorieux S, Delobel J, Goudemand M.
    Blood; 1990 Jan 01; 75(1):20-6. PubMed ID: 2104761
    [Abstract] [Full Text] [Related]

  • 39. Variant von Willebrand disease with defective binding to factor VIII: the first case from Japan.
    Nishino M, Miura S, Yoshioka A, Kuwahara I, Nishimura T, Hamada K, Fukui H.
    Int J Hematol; 1993 Apr 01; 57(2):163-73. PubMed ID: 8494994
    [Abstract] [Full Text] [Related]

  • 40. Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation.
    Wise RJ, Ewenstein BM, Gorlin J, Narins SC, Jesson M, Handin RI.
    Hum Genet; 1993 May 01; 91(4):367-72. PubMed ID: 8500791
    [Abstract] [Full Text] [Related]

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