Associated Papers
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
Alteplase and Angioedema: Can Clinical Exome Sequencing Redefine the Paradigm?
Tarsitano M et al.
Life (basel, Switzerland), 2026
Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF.
Atiq F et al.
Blood, 2025
Challenges and considerations of genetic testing in von Willebrand disease.
Seidizadeh O et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Variant mapping using mass spectrometry-based proteotyping as a diagnostic tool in von Willebrand disease.
Kreft IC et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.
Willems SPE et al.
Research and Practice in Thrombosis and Haemostasis, 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
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
Analysis of von Willebrand Disease in the "Heart of Europe".
Vangenechten I et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2022
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Seidizadeh O et al.
Blood Advances, 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
Variants p.Pro2063Ser and p.Arg324* co-segregate in type 3 von Willebrand disease patients from Southern Brazil.
Ornaghi AP et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Pagliari MT et al.
Plos One, 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
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives.
Zolkova J et al.
Seminars in Thrombosis and Hemostasis, 2020
The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.
Yadegari H et al.
Hamostaseologie, 2020
Characterization of VWF gene conversions causing von Willebrand disease.
Ahmad F et al.
British Journal of Haematology, 2019
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.
Weiss K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels.
Lavin M et al.
Blood, 2017
Von Willebrand disease mutation spectrum and associated mutation mechanisms.
de Jong A et al.
Thrombosis Research, 2017
Propranolol stops progressive multiple cerebral cavernoma in an adult patient.
Reinhard M et al.
Journal of the Neurological Sciences, 2016
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
Type 2M and Type 2A von Willebrand Disease: Similar but Different.
Favaloro EJ et al.
Seminars in Thrombosis and Hemostasis, 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
Evaluation of an heterogeneous group of patients with von Willebrand disease using an assay alternative to ristocetin induced platelet agglutination.
Stufano F et al.
Journal of Thrombosis and Haemostasis : Jth, 2015
Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.
Kasatkar P et al.
Plos One, 2014
Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.
Wang QY et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.
Bellissimo DB et al.
Blood, 2012
Expanded phenotype-genotype correlations in a pediatric population with type 1 von Willebrand disease.
Robertson JD et al.
Journal of Thrombosis and Haemostasis : Jth, 2011
Advances in the diagnosis and management of type 1 von Willebrand disease.
Castaman G et al.
Expert Review of Hematology, 2011
Specific N-linked glycosylation sites modulate synthesis and secretion of von Willebrand factor.
McKinnon TA et al.
Blood, 2010
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
Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients.
Federici AB et al.
Blood, 2009
Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.
Gadisseur A et al.
Acta Haematologica, 2009
Prevalence of type 2b 'Malmö/New York' von Willebrand disease in Italy: the role of von Willebrand factor gene conversion.
Baronciani L et al.
Journal of Thrombosis and Haemostasis : Jth, 2008
Investigation of von Willebrand factor gene mutations in Korean von Willebrand disease patients.
Song J et al.
The Korean Journal of Laboratory Medicine, 2007
The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.
James PD et al.
Blood, 2007
Gene conversions are a common cause of von Willebrand disease.
Gupta PK et al.
British Journal of Haematology, 2005
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