Associated Papers
Caplacizumab resistance in immune thrombotic thrombocytopenic purpura (iTTP) associated with VWF A1 domain missense variant.
Thomas M et al.
Journal of Thrombosis and Haemostasis : Jth, 2026
Genetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.
Seidizadeh O et al.
Haematologica, 2026
Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.
Yadegari H et al.
Thrombosis and Haemostasis, 2026
Genetic Burden in Congenital Anomalies of the Mitral and Tricuspid Valves: A Case-Control Study.
Campos-Garcia FJ et al.
Pediatric Cardiology, 2026
Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.
Seidizadeh O et al.
Scientific Reports, 2026
Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.
Huang C et al.
Annals of Medicine, 2025
Genetic Burden in Congenital Anomalies of the Mitral and Tricuspid Valves: A Case-Control Study.
Campos-Garcia FJ et al.
Pediatric Cardiology, 2025
von Willebrand disease combined with other hemostasis disorders: an overlooked clinical entity.
Seidizadeh O et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF.
Atiq F et al.
Blood, 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
Clinical utility of panel-based genetic sequencing for von Willebrand disease.
Ramanan R et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Global prevalence of platelet-type von Willebrand disease.
Seidizadeh O et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Challenges and considerations of genetic testing in von Willebrand disease.
Seidizadeh O et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
Application of genetic testing for the diagnosis of von Willebrand disease.
Seidizadeh O et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Clinical relevance of genetic variants in the von Willebrand factor according to in-silico methods.
Woods AI et al.
American Journal of Medical Genetics. Part A, 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
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.
Seidizadeh O et al.
Npj Genomic Medicine, 2023
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C et al.
Haematologica, 2023
Type 2B von Willebrand disease mutations differentially perturb autoinhibition of the A1 domain.
Legan ER et al.
Blood, 2023
Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia.
Alzahrani FM et al.
Journal of Medicine and Life, 2023
A comparative study in patients with type 2 von Willebrand disease using 4 different platelet-dependent von Willebrand factor assays.
Colpani P et al.
Research and Practice in Thrombosis and Haemostasis, 2023
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Seidizadeh O et al.
Blood Advances, 2022
Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.
Kalot MA et al.
Blood Advances, 2022
Genetic Alterations, DNA Methylation, Alloantibodies and Phenotypic Heterogeneity in Type III von Willebrand Disease.
Naveed MA et al.
Genes, 2022
von Willebrand disease and von Willebrand factor.
Sadler B et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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
Von Willebrand disease type 2M: Correlation between genotype and phenotype: Reply to comment from Dr. Favaloro and to comment from Dr. Woods et al.
Maas DPMSM et al.
Journal of Thrombosis and Haemostasis : Jth, 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
Von Willebrand disease type 2M: Correlation between genotype and phenotype.
Maas DPMSM et al.
Journal of Thrombosis and Haemostasis : Jth, 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
von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention.
Yadegari H et al.
Human Mutation, 2021
Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.
Gindele R et al.
Life (basel, Switzerland), 2021
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Pagliari MT et al.
Plos One, 2021
Gene panel for Mendelian strokes.
Fang F et al.
Stroke and Vascular Neurology, 2020
Comparison of von Willebrand factor platelet-binding activity assays: ELISA overreads type 2B with loss of HMW multimers.
Szederjesi A et al.
Journal of Thrombosis and Haemostasis : Jth, 2020
Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.
Guéguen P et al.
Transfusion, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
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
Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives.
Zolkova J et al.
Seminars in Thrombosis and Hemostasis, 2020
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 2020
The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.
Yadegari H et al.
Hamostaseologie, 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