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Journal Abstract Search

217 related items for PubMed ID: 26019279

  • 1. 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]

  • 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 Jul 09; 121(2-3):128-38. PubMed ID: 19506359
    [Abstract] [Full Text] [Related]

  • 3. 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
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  • 4. 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]

  • 5. Correction of a dominant-negative von Willebrand factor multimerization defect by small interfering RNA-mediated allele-specific inhibition of mutant von Willebrand factor.
    de Jong A, Dirven RJ, Oud JA, Tio D, van Vlijmen BJM, Eikenboom J.
    J Thromb Haemost; 2018 Jul 01; 16(7):1357-1368. PubMed ID: 29734512
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  • 7. 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
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  • 8. 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
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  • 10. 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
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  • 12. 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 01; 96(6):717-24. PubMed ID: 17139364
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  • 13. Von Willebrand's disease caused by compound heterozygosity for a substitution mutation (T1156M) in the D3 domain of the von Willebrand factor and a stop mutation (Q2470X).
    Lethagen S, Isaksson C, Schaedel C, Holmberg L.
    Thromb Haemost; 2002 Sep 01; 88(3):421-6. PubMed ID: 12353070
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 97(4):527-33. PubMed ID: 17393013
    [Abstract] [Full Text] [Related]

  • 15. 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
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  • 16. 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 Jan 01; 121(2-3):119-27. PubMed ID: 19506358
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. [von Willebrand factor and von Willebrand disease].
    Matsui T, Hamako J.
    Rinsho Ketsueki; 2016 Sep 01; 57(10):2113-2123. PubMed ID: 27795521
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.
    Gadisseur A, van der Planken M, Schroyens W, Berneman Z, Michiels JJ.
    Acta Haematol; 2009 Nov 01; 121(2-3):145-53. PubMed ID: 19506361
    [Abstract] [Full Text] [Related]

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