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4. 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]
5. 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]
6. 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; 121(2-3):145-53. PubMed ID: 19506361 [TBL] [Abstract][Full Text] [Related]
7. Response of von Willebrand factor parameters to desmopressin in patients with type 1 and type 2 congenital von Willebrand disease: diagnostic and therapeutic implications. Michiels JJ; van de Velde A; van Vliet HH; van der Planken M; Schroyens W; Berneman Z Semin Thromb Hemost; 2002 Apr; 28(2):111-32. PubMed ID: 11992235 [TBL] [Abstract][Full Text] [Related]
8. Diagnosis of subtype 2B von Willebrand disease in a patient with 2A phenotype of plasma von Willebrand factor. Gaucher C; de Romeuf C; Rauïs-Morret M; Corazza F; Fondu P; Mazurier C Thromb Haemost; 1995 Apr; 73(4):610-6. PubMed ID: 7495067 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Characterization, classification, and treatment of von Willebrand diseases: a critical appraisal of the literature and personal experiences. Michiels JJ; Gadisseur A; Budde U; Berneman Z; van der Planken M; Schroyens W; van de Velde A; van Vliet H Semin Thromb Hemost; 2005 Nov; 31(5):577-601. PubMed ID: 16276467 [TBL] [Abstract][Full Text] [Related]
11. Laboratory and molecular characteristics of recessive von Willebrand disease type 2C (2A subtype IIC) of variable severity due to homozygous or double heterozygous mutations in the D1 and D2 domains. Michiels JJ; Gadisseur A; van der Planken M; Schroyens W; Berneman Z Acta Haematol; 2009; 121(2-3):111-8. PubMed ID: 19506357 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Type 2B Hiroshima: a variant of von Willebrand disease characterized by chronic thrombocytopenia and the presence of all von Willebrand factor multimers in plasma. Takimoto Y; Imanaka F Int J Hematol; 1999 Aug; 70(2):127-31. PubMed ID: 10497852 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Phenotypic identification of platelet-type von Willebrand disease and its discrimination from type 2B von Willebrand disease: a question of 2B or not 2B? A story of nonidentical twins? Or two sides of a multidenominational or multifaceted primary-hemostasis coin? Favaloro EJ Semin Thromb Hemost; 2008 Feb; 34(1):113-27. PubMed ID: 18393148 [TBL] [Abstract][Full Text] [Related]
17. L1503R is a member of group I mutation and has dominant-negative effect on secretion of full-length VWF multimers: an analysis of two patients with type 2A von Willebrand disease. Kashiwagi T; Matsushita T; Ito Y; Hirashima K; Sanda N; Fujimori Y; Yamada T; Okumura K; Takagi A; Murate T; Katsumi A; Takamatsu J; Yamamoto K; Naoe T; Kojima T Haemophilia; 2008 May; 14(3):556-63. PubMed ID: 18397285 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation. Shen MC; Lin JS; Lin DS; Hsu SC; Lin B Thromb Res; 2003; 112(5-6):291-5. PubMed ID: 15041272 [TBL] [Abstract][Full Text] [Related]
20. Identification of a new type 2M von Willebrand disease mutation also at position 1324 of von Willebrand factor. Hilbert L; Fressinaud E; Ribba AS; Meyer D; Mazurier C; Thromb Haemost; 2002 Apr; 87(4):635-40. PubMed ID: 12008946 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]