193 related articles for article (PubMed ID: 9684781)
1. 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]
2. 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]
3. Molecular genetics of von Willebrand disease.
Mazurier C; Ribba AS; Gaucher C; Meyer D
Ann Genet; 1998; 41(1):34-43. PubMed ID: 9599650
[TBL] [Abstract][Full Text] [Related]
4. A common splice site mutation is shared by two families with different type 2N von Willebrand disease mutations.
Nesbitt IM; Hampton KK; Preston FE; Peake IR; Goodeve AC
Thromb Haemost; 1999 Sep; 82(3):1061-4. PubMed ID: 10494764
[TBL] [Abstract][Full Text] [Related]
5. 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;
Br J Haematol; 2004 Oct; 127(2):184-9. PubMed ID: 15461624
[TBL] [Abstract][Full Text] [Related]
6. Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1.
Schneppenheim R; Budde U; Krey S; Drewke E; Bergmann F; Lechler E; Oldenburg J; Schwaab R
Thromb Haemost; 1996 Oct; 76(4):598-602. PubMed ID: 8903002
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Characterisation of type 2N von Willebrand disease using phenotypic and molecular techniques.
Nesbitt IM; Goodeve AC; Guilliatt AM; Makris M; Preston FE; Peake IR
Thromb Haemost; 1996 Jun; 75(6):959-64. PubMed ID: 8822593
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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; 82(5):1446-50. PubMed ID: 10595636
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Factor VIII-von Willebrand factor binding defects in autosomal recessive von Willebrand disease type Normandy and in mild hemophilia A. New insights into factor VIII-von Willebrand factor interactions.
Jacquemin M
Acta Haematol; 2009; 121(2-3):102-5. PubMed ID: 19506355
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Identification of von Willebrand disease type 2N (Normandy) in Australia: a cross-laboratory investigation using different methods.
Rodgers SE; Lerda NV; Favaloro EJ; Duncan EM; Casey GJ; Quinn DM; Hertzberg M; Lloyd JV
Am J Clin Pathol; 2002 Aug; 118(2):269-76. PubMed ID: 12162689
[TBL] [Abstract][Full Text] [Related]
16. Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin.
Zhang ZP; Blombäck M; Egberg N; Falk G; Anvret M
Genomics; 1994 May; 21(1):188-93. PubMed ID: 8088787
[TBL] [Abstract][Full Text] [Related]
17. Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: from the patient to the gene. INSERM Network on Molecular Abnormalities in von Willebrand Disease.
Meyer D; Fressinaud E; Gaucher C; Lavergne JM; Hilbert L; Ribba AS; Jorieux S; Mazurier C
Thromb Haemost; 1997 Jul; 78(1):451-6. PubMed ID: 9198195
[TBL] [Abstract][Full Text] [Related]
18. Laboratory diagnosis and molecular basis of mild von Willebrand disease type 1.
Michiels JJ; Berneman Z; Gadisseur A; van der Planken M; Schroyens W; van Vliet HH
Acta Haematol; 2009; 121(2-3):85-97. PubMed ID: 19506353
[TBL] [Abstract][Full Text] [Related]
19. Characterization of recessive severe type 1 and 3 von Willebrand Disease (VWD), asymptomatic heterozygous carriers versus bloodgroup O-related von Willebrand factor deficiency, and dominant type 1 VWD.
Michiels JJ; Berneman Z; Gadisseur A; van der Planken M; Schroyens W; van de Velde A; van Vliet H
Clin Appl Thromb Hemost; 2006 Jul; 12(3):277-95. PubMed ID: 16959681
[TBL] [Abstract][Full Text] [Related]
20. Classification and characterization of hereditary types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (unclassifiable) von Willebrand disease.
Michiels JJ; Berneman Z; Gadisseur A; van der Planken M; Schroyens W; van de Velde A; van Vliet H
Clin Appl Thromb Hemost; 2006 Oct; 12(4):397-420. PubMed ID: 17000885
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
