BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 8518792)

  • 21. Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease.
    Gaucher C; Diéval J; Mazurier C
    Blood; 1994 Aug; 84(4):1024-30. PubMed ID: 8049421
    [TBL] [Abstract][Full Text] [Related]  

  • 22. The von Willebrand factor gene and genetics of von Willebrand's disease.
    Ginsburg D
    Mayo Clin Proc; 1991 May; 66(5):506-15. PubMed ID: 2030619
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Characterization of partial gene deletions in type III von Willebrand disease with alloantibody inhibitors.
    Mancuso DJ; Tuley EA; Castillo R; de Bosch N; Mannucci PM; Sadler JE
    Thromb Haemost; 1994 Aug; 72(2):180-5. PubMed ID: 7831648
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease.
    Gallinaro L; Sartorello F; Pontara E; Cattini MG; Bertomoro A; Bartoloni L; Pagnan A; Casonato A
    Thromb Haemost; 2006 Dec; 96(6):711-6. PubMed ID: 17139363
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the von Willebrand factor gene.
    Peake IR; Bowen D; Bignell P; Liddell MB; Sadler JE; Standen G; Bloom AL
    Blood; 1990 Aug; 76(3):555-61. PubMed ID: 2378985
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.
    Hampshire DJ; Abuzenadah AM; Cartwright A; Al-Shammari NS; Coyle RE; Eckert M; Al-Buhairan AM; Messenger SL; Budde U; Gürsel T; Ingerslev J; Peake IR; Goodeve AC
    Thromb Haemost; 2013 Aug; 110(2):264-74. PubMed ID: 23702511
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A novel platelet-type von Willebrand disease mutation (GP1BA p.Met255Ile) associated with type 2B "Malmö/New York" von Willebrand disease.
    Lavenu-Bombled C; Guitton C; Dupuis A; Baas MJ; Desconclois C; Dreyfus M; Li R; Caron C; Gachet C; Fressinaud E; Lanza F
    Thromb Haemost; 2016 Nov; 116(6):1070-1078. PubMed ID: 27683759
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease.
    Schneppenheim R; Brassard J; Krey S; Budde U; Kunicki TJ; Holmberg L; Ware J; Ruggeri ZM
    Proc Natl Acad Sci U S A; 1996 Apr; 93(8):3581-6. PubMed ID: 8622978
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Polymerase chain reaction amplification of two polymorphic simple repeat sequences within the von Willebrand factor gene: application to family studies in von Willebrand disease.
    Cumming AM; Armstrong JG; Pendry K; Burn AM; Wensley RT
    Hum Genet; 1992 May; 89(2):194-8. PubMed ID: 1587530
    [TBL] [Abstract][Full Text] [Related]  

  • 33. The molecular basis of von Willebrand disease.
    Mohlke KL; Nichols WC; Ginsburg D
    Int J Clin Lab Res; 1999; 29(1):1-7. PubMed ID: 10356656
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Identification of three candidate mutations causing type IIA von Willebrand disease using a rapid, nonradioactive, allele-specific hybridization method.
    Inbal A; Englender T; Kornbrot N; Randi AM; Castaman G; Mannucci PM; Sadler JE
    Blood; 1993 Aug; 82(3):830-6. PubMed ID: 8338947
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A common frameshift mutation in von Willebrand factor does not alter mRNA stability but interferes with normal propeptide processing.
    Mohlke KL; Nichols WC; Rehemtulla A; Kaufman RJ; Fagerström HM; Ritvanen KL; Kekomăki R; Ginsburg D
    Br J Haematol; 1996 Oct; 95(1):184-91. PubMed ID: 8857958
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Type 2M vWD resulting from a lysine deletion within a four lysine residue repeat in the A1 loop of von Willebrand factor.
    Hilbert L; Jenkins PV; Gaucher C; Meriane E; Collins PW; Pasi KJ; Mazurier C
    Thromb Haemost; 2000 Aug; 84(2):188-94. PubMed ID: 10959688
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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; 67(6):612-7. PubMed ID: 1380739
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Comparative mapping of distal murine chromosome 11 and human 17q21.3 in a region containing a modifying locus for murine plasma von Willebrand factor level.
    Mohlke KL; Purkayastha AA; Westrick RJ; Ginsburg D
    Genomics; 1998 Nov; 54(1):19-30. PubMed ID: 9806826
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I.
    Zhang ZP; Lindstedt M; Falk G; Blombäck M; Egberg N; Anvret M
    Am J Hum Genet; 1992 Oct; 51(4):850-8. PubMed ID: 1415226
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Alterations of mRNA processing and stability as a pathogenic mechanism in von Willebrand factor quantitative deficiencies.
    Castaman G; Platè M; Giacomelli SH; Rodeghiero F; Duga S
    J Thromb Haemost; 2010 Dec; 8(12):2736-42. PubMed ID: 20854374
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.