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

Bleeding symptoms in patients diagnosed as type 3 Von Willebrand Disease: results from 3WINTERS‐IPS, an international and collaborative cross‐sectional study

(2020) Alberto Tosetto et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

How good are pathogenicity predictors in detecting benign variants?

(2019) Abhishek Niroula et al.   PLoS Computational Biology

Characterization of the mutation spectrum in a Pakistani cohort of type 3 von Willebrand disease

(2019) Shariq Ahmed et al.   HAEMOPHILIA

Two cases of von Willebrand disease type 3 in consanguineous Chinese families

(2019) Xiong Wang et al.   Molecular Genetics & Genomic Medicine

Type-3 von Willebrand disease in India-Clinical spectrum and molecular profile

(2018) S. Elayaperumal et al.   HAEMOPHILIA

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

A comparative evaluation of a new fully automated assay for von Willebrand factor collagen binding activity to an established method

(2017) F. Stufano et al.   HAEMOPHILIA

Molecular diagnosis of von Willebrand disease

(2017) L. Baronciani et al.   HAEMOPHILIA

Von Willebrand disease mutation spectrum and associated mutation mechanisms

(2017) Annika de Jong et al.   THROMBOSIS RESEARCH

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

(2017) Ronak Y. Patel et al.   Genome Medicine

A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease

(2016) Agnès Veyradier et al.   MEDICINE

Von Willebrand’s Disease

(2016) Frank W.G. Leebeek et al.   NEW ENGLAND JOURNAL OF MEDICINE

Molecular and clinical profile of von Willebrand disease in Spain (PCM–EVW–ES): Proposal for a new diagnostic paradigm

(2016) Javier Batlle et al.   THROMBOSIS AND HAEMOSTASIS

Mutations in the D′D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF

(2016) Tara C. White-Adams et al.   THROMBOSIS RESEARCH

von Willebrand factor biosynthesis, secretion, and clearance: connecting the far ends

(2015) P. J. Lenting et al.   BLOOD

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Genetic Heterogeneity in a Large Cohort of Indian Type 3 von Willebrand Disease Patients

(2014) Priyanka Kasatkar et al.   PLoS One

Insights into pathological mechanisms of missense mutations in C-terminal domains of von Willebrand factor causing qualitative or quantitative von Willebrand disease

(2013) H. Yadegari et al.   HAEMATOLOGICA

Phenotypic and genotypic characterization of 10 Finnish patients with von Willebrand disease type 3: discovery of two main mutations

(2013) V. Jokela et al.   HAEMOPHILIA

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

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

(2013) M. Bowman et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Phenotypic and molecular characterisation of type 3 von Willebrand disease in a cohort of Indian patients

(2013) Ulrich Budde et al.   THROMBOSIS AND HAEMOSTASIS

Molecular characterization, recombinant protein expression, and mRNA analysis of type 3 von Willebrand disease: Studies of an Italian cohort of 10 patients

(2012) Maria Solimando et al.   AMERICAN JOURNAL OF HEMATOLOGY

Different bleeding risk in type 2A and 2M von Willebrand disease: a 2-year prospective study in 107 patients

(2012) G. CASTAMAN et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients

(2012) Hamideh Yadegari et al.   THROMBOSIS AND HAEMOSTASIS

Common large partialVWFgene deletion does not cause alloantibody formation in the Hungarian type 3 von Willebrand disease population

(2011) A. MOHL et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

The study of the effect of splicing mutations in von Willebrand factor using RNA isolated from patients’ platelets and leukocytes

(2011) I. CORRALES et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

The International Society on Thrombosis and Haematosis von Willebrand Disease Database: An Update

(2011) Daniel Hampshire et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE

(2010) R. Schneppenheim et al.   BLOOD

First application of MLPA method in severe von Willebrand disease. Confirmation of a new large VWF gene deletion and identification of heterozygous carriers

(2010) Noelia Cabrera et al.   BRITISH JOURNAL OF HAEMATOLOGY

Integration of molecular and clinical data of 40 unrelated von Willebrand Disease families in a Spanish locus-specific mutation database: first release including 58 mutations

(2010) I. Corrales et al.   HAEMATOLOGICA

Alterations of mRNA processing and stability as a pathogenic mechanism in von Willebrand factor quantitative deficiencies

(2010) G. CASTAMAN et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels

(2010) N. HICKSON et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype

(2010) G. CASTAMAN et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay

(2009) M. Plate et al.   HAEMATOLOGICA

Molecular characterization of Iranian patients with type 3 von Willebrand disease

(2009) S. SHAHBAZI et al.   HAEMOPHILIA

The mutation spectrum associated with type 3 von Willebrand disease in a cohort of patients from the North West of England

(2009) M. S. SUTHERLAND et al.   HAEMOPHILIA

Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study

(2009) J. EIKENBOOM et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

An assessment of the pathogenic significance of the R924Q von Willebrand factor substitution

(2009) E. BERBER et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene

(2009) Irene Corrales et al.   THROMBOSIS AND HAEMOSTASIS

von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA)

(2008) W. L. NICHOLS et al.   HAEMOPHILIA

An Alu-mediated novel large deletion is the most frequent cause of type 3 von Willebrand disease in Hungary

(2008) A. MOHL et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS