155 related articles for article (PubMed ID: 1448779)
1. Mutations in severe, type III von Willebrand's disease in the Dutch population: candidate missense and nonsense mutations associated with reduced levels of von Willebrand factor messenger RNA.
Eikenboom JC; Ploos van Amstel HK; Reitsma PH; Briët E
Thromb Haemost; 1992 Oct; 68(4):448-54. PubMed ID: 1448779
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. Expression studies of missense mutations p.D141Y, p.C275S located in the propeptide of von Willebrand factor in patients with type 3 von Willebrand disease.
Baronciani L; Federici AB; Cozzi G; La Marca S; Punzo M; Rubini V; Canciani MT; Mannucci PM
Haemophilia; 2008 May; 14(3):549-55. PubMed ID: 18328061
[TBL] [Abstract][Full Text] [Related]
7. Understanding von Willebrand's disease from gene defects to the patients.
Zhang Z; Blombäck M; Anvret M
J Intern Med Suppl; 1997; 740():115-9. PubMed ID: 9350192
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Genetic defects in von Willebrand disease type 3 in Indian and Greek patients.
Gupta PK; Saxena R; Adamtziki E; Budde U; Oyen F; Obser T; Schneppenheim R
Blood Cells Mol Dis; 2008; 41(2):219-22. PubMed ID: 18485763
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Genetic linkage of two intragenic restriction fragment length polymorphisms with von Willebrand's disease type IIA. Evidence for a defect in the von Willebrand factor gene.
Verweij CL; Quadt R; Briët E; Dubbeldam K; van Ommen GB; Pannekoek H
J Clin Invest; 1988 Apr; 81(4):1116-21. PubMed ID: 2895123
[TBL] [Abstract][Full Text] [Related]
13. A von Willebrand's factor genomic nucleotide variant and polymerase chain reaction diagnostic test associated with inheritable type-2 von Willebrand's disease in a line of german shorthaired pointer dogs.
Kramer JW; Venta PJ; Klein SR; Cao Y; Schall WD; Yuzbasiyan-Gurkan V
Vet Pathol; 2004 May; 41(3):221-8. PubMed ID: 15133170
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Genetic mutations in von Willebrand disease identified by DHPLC and DNA sequence analysis.
Kakela JK; Friedman KD; Haberichter SL; Buchholz NP; Christopherson PA; Kroner PA; Gill JC; Montgomery RR; Bellissimo DB
Mol Genet Metab; 2006 Mar; 87(3):262-71. PubMed ID: 16321553
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
