A laboratory phenotype/genotype correlation of 1167 French patients from 670 families with von Willebrand disease: a new epidemiologic picture

A Veyradier, P Boisseau, E Fressinaud, C Caron… - Medicine, 2016 - journals.lww.com
Abstract von Willebrand disease (VWD) is a genetic bleeding disease due to a defect of von
Willebrand factor (VWF), a glycoprotein crucial for platelet adhesion to the subendothelium …

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 …

[HTML][HTML] The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles

M Bowman, A Tuttle, C Notley, C Brown, S Tinlin… - Journal of Thrombosis …, 2013 - Elsevier
Summary Background Type 3 von Willebrand disease (VWD) is the most severe form of the
disease and is classically inherited in an autosomal recessive fashion. Objectives The aim of …

Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients

P Kasatkar, S Shetty, K Ghosh - PLoS One, 2014 - journals.plos.org
Background Though von Willebrand disease (VWD) is a common coagulation disorder, due
to the complexity of the molecular analysis of von Willebrand factor gene (VWF), not many …

Von Willebrand disease in Iran: diagnosis and management

A Dorgalaleh, S Tabibian, M Shams, F Ala… - Annals of …, 2018 - aob.amegroups.org
von Willebrand disease (VWD) is the most common inherited bleeding disorder, and is
classified into quantitative (type 1 and type 3) and qualitative (type 2) defects. The bleeding …

Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort

DJ Hampshire, AM Abuzenadah… - Thrombosis and …, 2013 - thieme-connect.com
Several cohort studies have investigated the molecular basis of von Willebrand disease
(VWD); however, these have mostly focused on European and North American populations …

[PDF][PDF] Clinical manifestations and complications of von Willebrand disease

S Mohsin, M Aslam, S Hussain… - Journal of Rawalpindi …, 2012 - academia.edu
Background: To describe the clinical presentation and complications of von Willebrand
disease (vWD). Methods: In this descriptive study, out of 426 patients, visiting the hemophilia …

Genoty** R1336X and Eliminating the Pseudogene Amplification in Type 3 von Willebrand Disease Patients

M Khatib, A Bolhassani, Z Noormohammadi… - Indian Journal of …, 2024 - Springer
Among inherited bleeding disorders, von Willebrand disease (VWD) is the most common
disease worldwide. Type 3, the most severe form, is more prevalent in develo** countries …

Nonsense mediated decay of VWF mRNA subsequent to c. 7674-7675insC mutation in type3 VWD patients

S Shahbazi, F Baniahmad, M Zakiani-Roudsari… - Blood Cells, Molecules …, 2012 - Elsevier
Von Willebrand disease (VWD), the most common genetic bleeding disorder, is caused by
defects in Von Willebrand factor (VWF). Quantitative deficiencies of the protein lead to either …

Classification of exon 18 linked variants of VWF gene in von Willebrand disease

S Shahbazi, S Alavi, R Mahdian - International Journal of …, 2012 - pmc.ncbi.nlm.nih.gov
Defects in von Willebrand factor, a crucial protein in haemostasis, lead to the most common
inherited coagulopathy in man, von Willebrand disease. To date, over 350 mutations and …