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
Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.
Seidizadeh O et al.
Scientific Reports, 2026
41559284 (PubMed )
Supplement: 41598_2026_36145_MOESM1_ESM.pdf
A noncanonical splicing variant c.875-5 T > G in von Willebrand factor causes in-frame exon skipping and type 2A von Willebrand disease.
Liang Q et al.
Thrombosis Research, 2024
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Seidizadeh O et al.
Blood Advances, 2022
Acquired von Willebrand Syndrome Hiding Inherited von Willebrand Disease Can Explain Severe Bleeding in Patients With Aortic Stenosis.
Casonato A et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2020
Cryptic non-canonical splice site activation is part of the mechanism that abolishes multimer organization in the c.2269_2270del von Willebrand factor.
Daidone V et al.
Haematologica, 2020
Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.
Borràs N et al.
Haematologica, 2019
A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing.
Shim YJ et al.
Pediatric Blood & Cancer, 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
28971901 (PubMed )
Supplement: 2017.168765.BORRAS_SUPPL.pdf
Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism.
Hawke L et al.
Blood, 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
A synonymous (c.3390C>T) or a splice-site (c.3380-2A>G) mutation causes exon 26 skipping in four patients with von Willebrand disease (2A/IIE).
Pagliari MT et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
[The phenotypic and genotypic diagnosis of three Chinese patients with von Willebrand disease].
Jiang LL et al.
Zhonghua Nei Ke Za Zhi, 2012
Genetic mutations in von Willebrand disease identified by DHPLC and DNA sequence analysis.
Kakela JK et al.
Molecular Genetics and Metabolism, 2006
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