Associated Papers
Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.
Seidizadeh O et al.
Scientific Reports, 2026
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
Application of genetic testing for the diagnosis of von Willebrand disease.
Seidizadeh O et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Switch to pdVWF:pdFVIII concentrate for prophylaxis in a paediatric patient with Type 3 von Willebrand disease: a case report.
Berger C et al.
Hematology (amsterdam, Netherlands), 2023
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.
Seidizadeh O et al.
Npj Genomic Medicine, 2023
Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.
Atiq F et al.
Blood Advances, 2022
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
Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype.
Atiq F et al.
Hemasphere, 2022
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 et al.
Croatian Medical Journal, 2022
Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.
Baronciani L et al.
Blood Advances, 2021
Assessment of primary haemostasis with a new recombinant von Willebrand factor in patients with von Willebrand disease.
Trossaërt M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2020
Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening.
Manderstedt E et al.
Plos One, 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
Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients.
Manderstedt E et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2018
Genetic variation in human drug-related genes.
Schärfe CPI et al.
Genome Medicine, 2017
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
Association between Genetic Polymorphism and Risk of von Willebrand Disease in Pakistan.
Arshad N et al.
Biomed Research International, 2017
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
Angiogenic characteristics of blood outgrowth endothelial cells from patients with von Willebrand disease.
Groeneveld DJ et al.
Journal of Thrombosis and Haemostasis : Jth, 2015
Clinical phenotype in genetically confirmed von Willebrand disease type 2N patients reflects a haemophilia A phenotype.
van Meegeren ME et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015
von Willebrand factor propeptide and the phenotypic classification of von Willebrand disease.
Sanders YV et al.
Blood, 2015
Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.
Kasatkar P et al.
Plos One, 2014
Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.
Hampshire DJ et al.
Thrombosis and Haemostasis, 2013
von Willebrand disease.
James PD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
Common large partial VWF gene deletion does not cause alloantibody formation in the Hungarian type 3 von Willebrand disease population.
Mohl A et al.
Journal of Thrombosis and Haemostasis : Jth, 2011
Nomenclature of genetic variants in hemostasis.
Goodeve AC et al.
Journal of Thrombosis and Haemostasis : Jth, 2011
Clinical and laboratory versus molecular markers for a correct classification of von Willebrand disease.
Federici AB et al.
Haematologica, 2009
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 et al.
Acta Haematologica, 2009
An Alu-mediated novel large deletion is the most frequent cause of type 3 von Willebrand disease in Hungary.
Mohl A et al.
Journal of Thrombosis and Haemostasis : Jth, 2008
Clinical and molecular markers of inherited von Willebrand disease type 3: are deletions of the VWF gene associated with alloantibodies to VWF?
Federici AB
Journal of Thrombosis and Haemostasis : Jth, 2008
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
Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: definite evidence for the non-penetrance of the C2362F mutation.
Castaman G et al.
American Journal of Hematology, 2007
Multiple von Willebrand factor mutations in patients with recessive type 1 von Willebrand disease.
Casonato A et al.
Thrombosis Research, 2007
Management of inherited von Willebrand disease in 2007.
Federici AB et al.
Annals of Medicine, 2007
Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment.
Castaman G et al.
Haematologica, 2003
von Willebrand disease: still an intriguing disorder in the era of molecular medicine.
Rodeghiero F
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2002
Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene.
Casaña P et al.
British Journal of Haematology, 2000
Genetic heterogeneity of severe von Willebrand disease type III in the German population.
Schneppenheim R et al.
Human Genetics, 1994