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 *

433 related articles for article (PubMed ID: 17393013)

  • 1. 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; 97(4):527-33. PubMed ID: 17393013
    [TBL] [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; 121(2-3):128-38. PubMed ID: 19506359
    [TBL] [Abstract][Full Text] [Related]  

  • 3. C2362F mutation gives rise to an ADAMTS13-resistant von Willebrand factor.
    Casonato A; Pontara E; Battiston M; Morpurgo M; Cattini MG; Casarin E; Saga G; Daidone V; De Marco L
    Thromb Haemost; 2013 Jun; 109(6):999-1006. PubMed ID: 23446343
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 96(6):717-24. PubMed ID: 17139364
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Dominant von Willebrand disease type 2A groups I and II due to missense mutations in the A2 domain of the von Willebrand factor gene: diagnosis and management.
    Michiels JJ; van Vliet HH
    Acta Haematol; 2009; 121(2-3):154-66. PubMed ID: 19506362
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel type 2A (Group II) von Willebrand disease mutation (L1503Q) associated with loss of the highest molecular weight von Willebrand factor multimers.
    O'Brien LA; Sutherland JJ; Hegadorn C; Benford K; Racz H; Rapson D; Hough C; Lillicrap D
    J Thromb Haemost; 2004 Jul; 2(7):1135-42. PubMed ID: 15219197
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. A new variant of von Willebrand's disease (type I Padua): doublet-organized plasma von Willebrand factor oligomers in the presence of all size multimers.
    Casonato A; Pontara E; Dannhäuser D; Bertomoro A; Sartori MT; Girolami A
    Haematologia (Budap); 1994; 26(2):97-109. PubMed ID: 7890268
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel von Willebrand factor mutation (I1372S) associated with type 2B-like von Willebrand disease: an elusive phenotype and a difficult diagnosis.
    Casonato A; Sartorello F; Pontara E; Gallinaro L; Bertomoro A; Grazia Cattini M; Daidone V; Szukowska M; Pagnan A
    Thromb Haemost; 2007 Dec; 98(6):1182-7. PubMed ID: 18064311
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Impaired dimerization of von Willebrand factor subunit due to mutation A2801D in the CK domain results in a recessive type 2A subtype IID von Willebrand disease.
    Hommais A; Stépanian A; Fressinaud E; Mazurier C; Pouymayou K; Meyer D; Girma JP; Ribba AS
    Thromb Haemost; 2006 May; 95(5):776-81. PubMed ID: 16676067
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Higher and lower active circulating VWF levels: different facets of von Willebrand disease.
    Casonato A; Pontara E; Morpurgo M; Sartorello F; De Groot PG; Cattini MG; Daidone V; De Marco L
    Br J Haematol; 2015 Dec; 171(5):845-53. PubMed ID: 26456374
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. A new candidate mutation, G1629R, in a patient with type 2A von Willebrand's disease: basic mechanisms and clinical implications.
    Hilbert L; Federici AB; Baronciani L; Dallagiovanna S; Mazurier C
    Haematologica; 2004 Sep; 89(9):1128-33. PubMed ID: 15377475
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Impact of mutations in the von Willebrand factor A2 domain on ADAMTS13-dependent proteolysis.
    Hassenpflug WA; Budde U; Obser T; Angerhaus D; Drewke E; Schneppenheim S; Schneppenheim R
    Blood; 2006 Mar; 107(6):2339-45. PubMed ID: 16322474
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Type 2M von Willebrand disease variant characterized by abnormal von willebrand factor multimerization.
    Casonato A; Pontara E; Sartorello F; Bertomoro A; Durante C; Girolami A
    J Lab Clin Med; 2001 Jan; 137(1):70-6. PubMed ID: 11150026
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Survival of von Willebrand factor released following DDAVP in a type 1 von Willebrand disease cohort: influence of glycosylation, proteolysis and gene mutations.
    Millar CM; Riddell AF; Brown SA; Starke R; Mackie I; Bowen DJ; Jenkins PV; van Mourik JA
    Thromb Haemost; 2008 May; 99(5):916-24. PubMed ID: 18449422
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Homozygous C2362F von Willebrand factor induces intracellular retention of mutant von Willebrand factor resulting in autosomal recessive severe von Willebrand disease.
    Tjernberg P; Castaman G; Vos HL; Bertina RM; Eikenboom JC
    Br J Haematol; 2006 May; 133(4):409-18. PubMed ID: 16643449
    [TBL] [Abstract][Full Text] [Related]  

  • 19. C1584 in von Willebrand factor is necessary for enhanced proteolysis by ADAMTS13 in vitro.
    Keeney S; Grundy P; Collins PW; Bowen DJ
    Haemophilia; 2007 Jul; 13(4):405-8. PubMed ID: 17610557
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A new L1446P mutation is responsible for impaired von Willebrand factor synthesis, structure, and function.
    Casonato A; Cattini MG; Soldera C; Marcato S; Sartorello F; Pontara E; Pagnan A
    J Lab Clin Med; 2004 Nov; 144(5):254-9. PubMed ID: 15570243
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.