[HTML][HTML] Von Willebrand disease type 2N: an update

O Seidizadeh, F Peyvandi, PM Mannucci - Journal of Thrombosis and …, 2021 - Elsevier
Quantitative or qualitative defects of von Willebrand factor (VWF) are responsible for the
most common inherited bleeding disorder, von Willebrand disease (VWD). Type 2N VWD is …

How we make an accurate diagnosis of von Willebrand disease

L Baronciani, F Peyvandi - Thrombosis research, 2020 - Elsevier
Abstract von Willebrand disease (VWD) is a common autosomally inherited hemorrhagic
disorder mainly associated with mucocutaneous bleeding. VWD is due to quantitative (type …

Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS

L Baronciani, I Peake, R Schneppenheim… - Blood …, 2021 - ashpublications.org
Type 3 von Willebrand disease (VWD3) is a rare and severe bleeding disorder
characterized by often undetectable von Willebrand factor (VWF) plasma levels, a recessive …

von Willebrand disease: Diagnosis and treatment, treatment of women, and genomic approach to diagnosis

M Laffan, J Sathar, JM Johnsen - Haemophilia, 2021 - Wiley Online Library
Abstract von Willebrand disease (VWD) is the most common inherited bleeding disorder.
VWD is caused by deficiencies in von Willebrand factor (VWF), a critical adhesive …

Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2

O Seidizadeh, L Baronciani, MT Pagliari… - Blood …, 2022 - ashpublications.org
Abstract von Willebrand disease (VWD) type 2 is caused by qualitative abnormalities of von
Willebrand factor (VWF). This study aimed to determine the genotypic and phenotypic …

Genetic background of von Willebrand disease: history, current state, and future perspectives

J Zolkova, J Sokol, T Simurda… - … in thrombosis and …, 2020 - thieme-connect.com
Sequencing of the gene encoding for von Willebrand factor (VWF) has brought new insight
into the physiology of VWF as well as its pathophysiology in the context of von Willebrand …

Type 2A and 2M von Willebrand disease: differences in phenotypic parameters according to the affected domain by disease-causing variants and assessment of …

AI Woods, J Paiva, DM Primrose… - … in Thrombosis and …, 2021 - thieme-connect.com
Type 2A and 2M von Willebrand disease (VWD) broadly show similar phenotypic
parameters, but involve different pathophysiological mechanisms. This report presents the …

Von Willebrand factor testing ratios in the diagnosis and subtyping of von Willebrand disease

KJ Smock - International Journal of Laboratory Hematology, 2023 - Wiley Online Library
Von Willebrand disease (VWD) is a common bleeding disorder of platelet adhesion with six
currently recognized subtypes. Laboratory diagnosis consists of an initial test panel …

Update on molecular testing in von Willebrand disease

J Batlle, A Pérez-Rodríguez, I Corrales… - … in Thrombosis and …, 2019 - thieme-connect.com
Diagnosis of von Willebrand disease (VWD) depends on personal and family history of
bleeding and confirmatory laboratory testing. Currently available phenotypic tests for VWD …

Application of genetic testing for the diagnosis of von Willebrand disease

O Seidizadeh, L Baronciani, D Lillicrap… - Journal of Thrombosis …, 2024 - Elsevier
Abstract von Willebrand disease (VWD) is the most frequent inherited bleeding disorder with
an estimated symptomatic prevalence of 1 per 1,000 in the general population. VWD is …