Associated Papers
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
A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.
Zhu Y et al.
European Journal of Human Genetics : Ejhg, 2024
Development and Characterisation of a New Patient-Derived Xenograft Model of AR-Negative Metastatic Castration-Resistant Prostate Cancer.
Turnham DJ et al.
Cells, 2024
Clinical relevance of genetic variants in the von Willebrand factor according to in-silico methods.
Woods AI et al.
American Journal of Medical Genetics. Part A, 2024
Heterogeneity in the half-life of factor VIII concentrate in patients with hemophilia A is due to variability in the clearance of endogenous von Willebrand factor.
Elsheikh E et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
Missense Variants of von Willebrand Factor in the Background of COVID-19 Associated Coagulopathy.
Elek Z et al.
Genes, 2023
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Variants p.Pro2063Ser and p.Arg324* co-segregate in type 3 von Willebrand disease patients from Southern Brazil.
Ornaghi AP et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Pagliari MT et al.
Plos One, 2021
Unraveling the Influence of Common von Willebrand factor variants on von Willebrand Disease Phenotype: An Exploratory Study on the Molecular and Clinical Profile of von Willebrand Disease in Spain Cohort.
Borràs N et al.
Thrombosis and Haemostasis, 2020
Genetic variants of VWF gene in type 2 von Willebrand disease.
Freitas SDS et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
ADAMTS13 missense variants associated with defective activity and secretion of ADAMTS13 in a patient with non-cirrhotic portal hypertension.
Goel A et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2017
Thrombotic microangiopathy without renal involvement: two novel mutations in complement-regulator genes.
Peyvandi F et al.
Journal of Thrombosis and Haemostasis : Jth, 2016
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis.
Lotta LA et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
von Willebrand disease.
James PD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
Prevalence and spectrum of von Willebrand disease from western India.
Trasi S et al.
The Indian Journal of Medical Research, 2005