229 related articles for article (PubMed ID: 20492463)
1. von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels.
Hickson N; Hampshire D; Winship P; Goudemand J; Schneppenheim R; Budde U; Castaman G; Rodeghiero F; Federici AB; James P; Peake I; Eikenboom J; Goodeve A;
J Thromb Haemost; 2010 Sep; 8(9):1986-93. PubMed ID: 20492463
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Abnormal binding of factor VIII is linked with the substitution of glutamine for arginine 91 in von Willebrand factor in a variant form of von Willebrand disease.
Kroner PA; Friedman KD; Fahs SA; Scott JP; Montgomery RR
J Biol Chem; 1991 Oct; 266(29):19146-9. PubMed ID: 1918030
[TBL] [Abstract][Full Text] [Related]
4. An assessment of the pathogenic significance of the R924Q von Willebrand factor substitution.
Berber E; James PD; Hough C; Lillicrap D
J Thromb Haemost; 2009 Oct; 7(10):1672-9. PubMed ID: 19624459
[TBL] [Abstract][Full Text] [Related]
5. Functional analysis of the Arg91Gln substitution in the factor VIII binding domain of von Willebrand factor demonstrates variable phenotypic expression.
Lavergne JM; Piao Y; Ribba AS; Girma JP; Siguret V; Piétu G; Boyer-Neumann C; Schandelong A; Bahnak BR; Meyer D
Thromb Haemost; 1993 Oct; 70(4):691-6. PubMed ID: 8115998
[TBL] [Abstract][Full Text] [Related]
6. A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele.
Peerlinck K; Eikenboom JC; Ploos Van Amstel HK; Sangtawesin W; Arnout J; Reitsma PH; Vermylen J; Briët E
Br J Haematol; 1992 Mar; 80(3):358-63. PubMed ID: 1581215
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Diagnosis of von Willebrand disease type 2N: a simplified method for measurement of factor VIII binding to von Willebrand factor.
Miller CH; Kelley L; Green D
Am J Hematol; 1998 Aug; 58(4):311-8. PubMed ID: 9692396
[TBL] [Abstract][Full Text] [Related]
9. Evaluation of von Willebrand factor phenotypes and genotypes in Hemophilia A patients with and without identified F8 mutations.
Boylan B; Rice AS; De Staercke C; Eyster ME; Yaish HM; Knoll CM; Bean CJ; Miller CH;
J Thromb Haemost; 2015 Jun; 13(6):1036-42. PubMed ID: 25780857
[TBL] [Abstract][Full Text] [Related]
10. Unraveling the Influence of Common von Willebrand factor variants on von Willebrand Disease Phenotype: An Exploratory Study on the Molecular and Clinical Profile of von Willebrand Disease in Spain Cohort.
Borràs N; Garcia-Martínez I; Batlle J; Pérez-Rodríguez A; Parra R; Altisent C; López-Fernández MF; Costa Pinto J; Batlle-López F; Cid AR; Bonanad S; Cabrera N; Moret A; Mingot-Castellano ME; Navarro N; Pérez-Montes R; Marcellini S; Moreto A; Herrero S; Soto I; Fernández-Mosteirín N; Jiménez-Yuste V; Alonso N; de Andrés-Jacob A; Fontanes E; Campos R; Paloma MJ; Bermejo N; Berrueco R; Mateo J; Arribalzaga K; Marco P; Palomo Á; Castro Quismondo N; Iñigo B; Del Mar Nieto M; Vidal R; Martínez MP; Aguinaco R; Tenorio M; Ferreiro M; García-Frade J; Rodríguez-Huerta AM; Cuesta J; Rodríguez-González R; García-Candel F; Dobón M; Aguilar C; Corrales I; Vidal F
Thromb Haemost; 2020 Mar; 120(3):437-448. PubMed ID: 32135566
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease.
O'Brien LA; James PD; Othman M; Berber E; Cameron C; Notley CR; Hegadorn CA; Sutherland JJ; Hough C; Rivard GE; O'Shaunessey D; Lillicrap D;
Blood; 2003 Jul; 102(2):549-57. PubMed ID: 12649144
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Factor VIII and von Willebrand factor changes after desmopressin and during pregnancy in type 2M von Willebrand disease Vicenza: a prospective study comparing patients with single (R1205H) and double (R1205H-M740I) defect.
Castaman G; Federici AB; Bernardi M; Moroni B; Bertoncello K; Rodeghiero F
J Thromb Haemost; 2006 Feb; 4(2):357-60. PubMed ID: 16420565
[TBL] [Abstract][Full Text] [Related]
15. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).
Goodeve A; Eikenboom J; Castaman G; Rodeghiero F; Federici AB; Batlle J; Meyer D; Mazurier C; Goudemand J; Schneppenheim R; Budde U; Ingerslev J; Habart D; Vorlova Z; Holmberg L; Lethagen S; Pasi J; Hill F; Hashemi Soteh M; Baronciani L; Hallden C; Guilliatt A; Lester W; Peake I
Blood; 2007 Jan; 109(1):112-21. PubMed ID: 16985174
[TBL] [Abstract][Full Text] [Related]
16. VWF propeptide and ratios between VWF, VWF propeptide, and FVIII in the characterization of type 1 von Willebrand disease.
Eikenboom J; Federici AB; Dirven RJ; Castaman G; Rodeghiero F; Budde U; Schneppenheim R; Batlle J; Canciani MT; Goudemand J; Peake I; Goodeve A;
Blood; 2013 Mar; 121(12):2336-9. PubMed ID: 23349392
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. The mutation Arg (53)----Trp causes von Willebrand disease Normandy by abolishing binding to factor VIII. Studies with recombinant von Willebrand factor.
Jorieux S; Tuley EA; Gaucher C; Mazurier C; Sadler JE
Blood; 1992 Feb; 79(3):563-7. PubMed ID: 1732004
[TBL] [Abstract][Full Text] [Related]
19. Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease.
Lapić I; Radić Antolic M; Boban A; Coen Herak D; Rogić D; Zadro R
Croat Med J; 2022 Apr; 63(2):166-175. PubMed ID: 35505650
[TBL] [Abstract][Full Text] [Related]
20. The defective interaction between von Willebrand factor and factor VIII in a patient with type 1 von Willebrand disease is caused by substitution of Arg19 and His54 in mature von Willebrand factor.
Kroner PA; Foster PA; Fahs SA; Montgomery RR
Blood; 1996 Feb; 87(3):1013-21. PubMed ID: 8562925
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]