Associated Papers
Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.
Seidizadeh O et al.
Scientific Reports, 2026
Comparison of genotypes and phenotypes for von Willebrand factor gene variants using Japanese genome database.
Akimoto T et al.
Blood Vessels, Thrombosis & Hemostasis, 2025
Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Challenges and considerations of genetic testing in von Willebrand disease.
Seidizadeh O et al.
Research and Practice in Thrombosis and Haemostasis, 2025
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.
Seidizadeh O et al.
Npj Genomic Medicine, 2023
Molecular pathogenesis and heterogeneity in type 3 VWD families in U.S. Zimmerman program.
Christopherson PA et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Genetic Alterations, DNA Methylation, Alloantibodies and Phenotypic Heterogeneity in Type III von Willebrand Disease.
Naveed MA et al.
Genes, 2022
Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.
Baronciani L et al.
Blood Advances, 2021
The homozygous variant p.Gln1311* in exon 28 of VWF is associated with the development of alloantibodies in 3 unrelated patients with type 3 VWD.
Lassalle F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention.
Yadegari H et al.
Human Mutation, 2021
Improving diagnosis of von Willebrand disease: Reference ranges for von Willebrand factor multimer distribution.
Vangenechten I et al.
Research and Practice in Thrombosis and Haemostasis, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
Characterization of the mutation spectrum in a Pakistani cohort of type 3 von Willebrand disease.
Ahmed S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
Type-3 von Willebrand disease in India-Clinical spectrum and molecular profile.
Elayaperumal S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018
Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.
Pérez-Rodríguez A et al.
Plos One, 2018
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.
Borràs N et al.
Haematologica, 2017
Von Willebrand disease mutation spectrum and associated mutation mechanisms.
de Jong A et al.
Thrombosis Research, 2017
Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.
Fidalgo T et al.
Thrombosis and Haemostasis, 2016
A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.
Veyradier A et al.
Medicine, 2016
Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.
Casonato A et al.
Plos One, 2016
Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.
Kasatkar P et al.
Plos One, 2014
The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.
Bowman M et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Genetic testing for von Willebrand disease: the case against.
Favaloro EJ
Journal of Thrombosis and Haemostasis : Jth, 2010
The mutation spectrum associated with type 3 von Willebrand disease in a cohort of patients from the north west of England.
Sutherland MS et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009
Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.
Chuzhanova N et al.
Human Mutation, 2009
Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene.
Corrales I et al.
Thrombosis and Haemostasis, 2009
Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease.
Xie F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007
Gene conversions are a common cause of von Willebrand disease.
Gupta PK et al.
British Journal of Haematology, 2005
Homozygous gene conversion in von Willebrand factor gene as a cause of type 3 von Willebrand disease and predisposition to inhibitor development.
Surdhar GK et al.
Blood, 2001
New mutations in exon 28 of the von Willebrand factor gene detected in patients with different types of von Willebrand's disease.
Casaña P et al.
Haematologica, 2001
Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene.
Casaña P et al.
British Journal of Haematology, 2000
Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients.
Baronciani L et al.
Blood Cells, Molecules & Diseases, 0
Genetic defects in von Willebrand disease type 3 in Indian and Greek patients.
Gupta PK et al.
Blood Cells, Molecules & Diseases, 0