These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

208 related articles for article (PubMed ID: 20586924)

  • 1. 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; 8(9):2011-6. PubMed ID: 20586924
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Reduced von Willebrand factor secretion is associated with loss of Weibel-Palade body formation.
    Castaman G; Giacomelli SH; Jacobi PM; Obser T; Budde U; Rodeghiero F; Schneppenheim R; Haberichter SL
    J Thromb Haemost; 2012 May; 10(5):951-8. PubMed ID: 22429825
    [TBL] [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;
    Thromb Haemost; 2006 Sep; 96(3):290-4. PubMed ID: 16953269
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 92(1):36-41. PubMed ID: 15213842
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 121(2-3):119-27. PubMed ID: 19506358
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 121(2-3):128-38. PubMed ID: 19506359
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 58(4):311-8. PubMed ID: 9692396
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 79(3):563-7. PubMed ID: 1732004
    [TBL] [Abstract][Full Text] [Related]  

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

  • 10. Clinical and laboratory phenotype variability in type 2M von Willebrand disease.
    Doruelo AL; Haberichter SL; Christopherson PA; Boggio LN; Gupta S; Lentz SR; Shapiro AD; Montgomery RR; Flood VH
    J Thromb Haemost; 2017 Aug; 15(8):1559-1566. PubMed ID: 28544236
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 97(7):2059-66. PubMed ID: 11264172
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 88(7):2433-41. PubMed ID: 8839833
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 92(12):4663-70. PubMed ID: 9845532
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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;
    J Thromb Haemost; 2015 Jun; 13(6):1036-42. PubMed ID: 25780857
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 78(4):506-14. PubMed ID: 1832934
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 88(7):2559-68. PubMed ID: 8839848
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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;
    Br J Haematol; 2003 Feb; 120(4):627-32. PubMed ID: 12588349
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.