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
Deep molecular modeling and mechanistic insights into type 2A von Willebrand disease with von Willebrand factor A2 domain mutations.
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
Clinical utility of panel-based genetic sequencing for von Willebrand disease.
Ramanan R et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Discovery of mutated oncodriver genes associated with glioblastoma originated from stem cells of subventricular zone through whole exome sequence profile analysis, and drug repurposing.
Sarker A et al.
Heliyon, 2025
Challenges and considerations of genetic testing in von Willebrand disease.
Seidizadeh O et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Application of genetic testing for the diagnosis of von Willebrand disease.
Seidizadeh O et al.
Journal of Thrombosis and Haemostasis : Jth, 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
Type 2M/2A von Willebrand disease: a shared phenotype between type 2M and 2A.
Seidizadeh O et al.
Blood Advances, 2024
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
An approach for developing a blood-based screening panel for lung cancer based on clonal hematopoietic mutations.
Anandakrishnan R et al.
Plos One, 2024
Nested and Large Nested Subtypes of Urothelial Carcinoma of the Upper Urinary Tract: A Multi-institutional Study.
Aron M et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 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
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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Origin and timing of de novo variants implicated in type 2 von Willebrand disease.
Chen M et al.
Journal of Cellular and Molecular Medicine, 2022
Analysis of von Willebrand Disease in the "Heart of Europe".
Vangenechten I et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2022
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
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
Exploring the biological role of postzygotic and germinal de novo mutations in ASD.
Alonso-Gonzalez A et al.
Scientific Reports, 2021
Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.
Rossetti R et al.
Frontiers in Endocrinology, 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
Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives.
Zolkova J et al.
Seminars in Thrombosis and Hemostasis, 2020
Molecular and clinical profile of type 2 von Willebrand disease in Iran: a thirteen-year experience.
Rassoulzadegan M et al.
International Journal of Hematology, 2020
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.
Edwards JJ et al.
Jacc. Basic to Translational Science, 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
Comparison of an automated chemiluminescent assay to a manual ELISA assay for determination of von Willebrand Factor collagen binding activity on VWD plasma patients previously diagnosed through molecular analysis of VWF.
Jousselme E 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
Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.
Pérez-Rodríguez A et al.
Plos One, 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
Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.
Broutier L et al.
Nature Medicine, 2017
Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test.
Michiels JJ et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2017
Molecular and clinical profile of VWD in a large cohort of Chinese population: application of next generation sequencing and CNVplex® technique.
Liang Q et al.
Thrombosis and Haemostasis, 2017
A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.
Lynch CJ et al.
Plos One, 2017
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
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
De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD.
Shen MC et al.
Thrombosis Journal, 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
How I treat type 2 variant forms of von Willebrand disease.
Tosetto A et al.
Blood, 2015
A two-centre comparative evaluation of new automated assays for von Willebrand factor ristocetin cofactor activity and antigen.
Stufano F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014