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
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
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
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
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
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Seidizadeh O et al.
Blood Advances, 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
Von Willebrand disease type 2M: Correlation between genotype and phenotype.
Maas DPMSM et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation.
Zhang W et al.
Frontiers in Pediatrics, 2022
Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia.
Lago J et al.
Genes, 2021
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
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
Gene panel for Mendelian strokes.
Fang F et al.
Stroke and Vascular Neurology, 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
The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.
Yadegari H et al.
Hamostaseologie, 2020
Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses.
Kim HJ et al.
Annals of Laboratory Medicine, 2019
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
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
von Willebrand disease type 1 mutation p.Arg1379Cys and the variant p.Ala1377Val synergistically determine a 2M phenotype in four Italian patients.
Pagliari MT et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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
Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.
Casonato A et al.
Plos One, 2016
The spectrum of mutations in Southern Spanish patients with von Willebrand disease.
Álvarez-Laderas I et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015
How I treat type 2 variant forms of von Willebrand disease.
Tosetto A et al.
Blood, 2015
An update on type 2B von Willebrand disease.
Mikhail S et al.
Expert Review of Hematology, 2014
Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.
Kasatkar P et al.
Plos One, 2014
von Willebrand disease.
James PD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
Advances in the diagnosis and management of type 1 von Willebrand disease.
Castaman G et al.
Expert Review of Hematology, 2011
Genetic testing for von Willebrand disease: the case against.
Favaloro EJ
Journal of Thrombosis and Haemostasis : Jth, 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
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
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
Genetic mutations in von Willebrand disease identified by DHPLC and DNA sequence analysis.
Kakela JK et al.
Molecular Genetics and Metabolism, 2006