577 related articles for article (PubMed ID: 17139363)
1. 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]
2. Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin.
Eikenboom JC; Castaman G; Vos HL; Bertina RM; Rodeghiero F
Thromb Haemost; 1998 Apr; 79(4):709-17. PubMed ID: 9569178
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. Characterization of a novel mutation in the von Willebrand factor propeptide in a distinct subtype of recessive von Willebrand disease.
Lanke E; Kristoffersson AC; Philips M; Holmberg L; Lethagen S
Thromb Haemost; 2008 Aug; 100(2):211-6. PubMed ID: 18690339
[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. 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]
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. Autosomal recessive von Willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von Willebrand factor gene. A single center experience on molecular heterogeneity and laboratory features in 12 families.
Castaman G; Giacomelli S; Rodeghiero F
Acta Haematol; 2009; 121(2-3):106-10. PubMed ID: 19506356
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. von Willebrand disease R1374C: type 2A or 2M? A challenge to the revised classification. High frequency in the northwest of Spain (Galicia).
Penas N; Pérez-Rodríguez A; Torea JH; Lourés E; Noya MS; López-Fernández MF; Batlle J
Am J Hematol; 2005 Nov; 80(3):188-96. PubMed ID: 16247740
[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. 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]
15. Identification of mutations in the canine von Willebrand factor gene associated with type III von Willebrand disease.
Rieger M; Schwarz HP; Turecek PL; Dorner F; van Mourik JA; Mannhalter C
Thromb Haemost; 1998 Aug; 80(2):332-7. PubMed ID: 9716162
[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. Severe, recessive type 1 is a discrete form of von Willebrand disease: the lesson learned from the c.1534-3C>A von Willebrand factor mutation.
Casonato A; Cattini MG; Barbon G; Daidone V; Pontara E
Thromb Res; 2015 Sep; 136(3):682-6. PubMed ID: 26251079
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. New mutations in exon 28 of the von Willebrand factor gene detected in patients with different types of von Willebrand's disease.
Casaña P; Martínez F; Haya S; Tavares A; Aznar JA
Haematologica; 2001 Apr; 86(4):414-9. PubMed ID: 11325649
[TBL] [Abstract][Full Text] [Related]
20. Molecular mechanism and classification of von Willebrand disease.
Sadler JE; Matsushita T; Dong Z; Tuley EA; Westfield LA
Thromb Haemost; 1995 Jul; 74(1):161-6. PubMed ID: 8578450
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
