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
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Identification of DHX40 as a candidate susceptibility gene for colorectal and hematological neoplasia.
Olkinuora A et al.
Leukemia, 2023
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.
Seidizadeh O et al.
Npj Genomic Medicine, 2023
Patients with von Willebrand disease in China: Results of an online survey.
Yang W et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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
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
Reevaluation of von Willebrand disease diagnosis in a Croatian paediatric cohort combining bleeding scores, phenotypic laboratory assays and next generation sequencing: a pilot study.
Lapić I et al.
Biochemia Medica, 2022
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.
Baronciani L et al.
Blood Advances, 2021
Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives.
Zolkova J et al.
Seminars in Thrombosis and Hemostasis, 2020
Gene Correction of Point Mutations Using PolyPurine Reverse Hoogsteen Hairpins Technology.
Félix AJ et al.
Frontiers in Genome Editing, 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
Intravenous immunoglobulin treatment in a type 3 von Willebrand disease patient with alloantibodies and a life-threatening gastrointestinal bleed.
Nummi V et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
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
Comprehensive re-evaluation of historical von Willebrand disease diagnosis in association with whole blood platelet aggregation and function.
Nummi V et al.
International Journal of Laboratory Hematology, 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
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
Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease.
Ahmad F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014
Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.
Kasatkar P et al.
Plos One, 2014
Phenotypic and genotypic characterization of 10 Finnish patients with von Willebrand disease type 3: discovery of two main mutations.
Jokela V et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013
A common VWF exon 28 haplotype in the Turkish population.
Berber E et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2013
Phenotypic and molecular characterisation of type 3 von Willebrand disease in a cohort of Indian patients.
Ahmad F et al.
Thrombosis and Haemostasis, 2013
The molecular genetics of von Willebrand disease.
Berber E
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2012
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
Coinheritance of severe von Willebrand disease with Glanzmann thrombasthenia.
Ahmad F et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2010
Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1.
Michiels JJ et al.
Acta Haematologica, 2009
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
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
Molecular characterization of a multiethnic group of 21 patients with type 3 von Willebrand disease.
Baronciani L et al.
Thrombosis and Haemostasis, 2000
A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization.
Jorieux S et al.
Blood, 1998
Effects of the mutant von Willebrand factor gene in von Willebrand disease.
Zhang Z et al.
Human Genetics, 1995
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
[Prevention of new cases of the disease in families of hemophilia patients in Moscow using a genetic register].
Pliushch OP et al.
Gematologiia I Transfuziologiia, 0