Associated Papers
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 utility of panel-based genetic sequencing for von Willebrand disease.
Ramanan R et al.
Research and Practice in Thrombosis and Haemostasis, 2025
40242192 (PubMed )
Supplement: mmc1.xlsx › Participant_data
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
Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism.
Hawke L et al.
Blood, 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
Select a paper to view details