An intronic mutation c.6430-3C>G in the F8 gene causes splicing efficiency and premature termination in hemophilia A

A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan

homozygous c.2311A>G

homozygous c.2311A>G

homozygous c.2311A>G

homozygous c.2311A>G

homozygous c.2311A>G

Safety of a pasteurized plasma‐derived Factor VIII and von Willebrand factor concentrate: analysis of 33 years of pharmacovigilance data

Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia

Plasma levels of plasminogen activator inhibitor‐1 and bleeding phenotype in patients with von Willebrand disease

Efficacy and safety of a VWF/FVIII concentrate (wilate ® ) in inherited von Willebrand disease patients undergoing surgical procedures

Identification and Functional Analysis of a Novel von Willebrand Factor Mutation in a Family with Type 2A von Willebrand Disease

Haemostatic patterns and bleeding scores of a genetically characterised Italian family with combined haemophilia A and type 1 von Willebrand disease

Potential misdiagnosis of von Willebrand disease and haemophilia caused by ineffective mixing of thawed plasma

PT-VWD posing diagnostic and therapeutic challenges - small case series

Development of a novel flow cytometric immunobead array to quantify VWF: Ag and VWF: GPIbR and its application in acute myocardial infarction

Large deletions identified in patients with von Willebrand disease using multiple ligation-dependent probe amplification

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

PT-VWD posing diagnostic and therapeutic challenges – small case series.

Occult cancer detection in patients with hemostatic disorder and venous thromboembolism

Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients

Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease:Insights from a German Patient Cohort

Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L

Clinical utility of panel-based genetic sequencing for von Willebrand disease

Reevaluation of von Willebrand disease diagnosis in a Croatian paediatric cohort combining bleeding scores, phenotypic laboratory assays and next generation sequencing: a pilot study

Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype

Recombinant von Willebrand factor for severe gastrointestinal bleeding unresponsive to other treatments in a patient with type 2A von Willebrand disease: a case report

Increase of von Willebrand factor with aging in type 1 von Willebrand disease: fact or fiction?

A novel ITGA2B double cytosine frameshift variant (c.1986_1987insCC) leads to Glanzmann's thrombasthenia in a cat

A homozygous female hemophilia A

(A) With ARL2BP, photoreceptor OS develops normally, with correct DMT formation, axoneme extension, and disk alignment.

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

Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami

The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms

Intron retention resulting from a silent mutation in the VWF gene that structurally influences the 5′ splice site

Pharmacokinetics, efficacy, and safety of a plasma-derived VWF/FVIII concentrate (VONCENTO) for on-demand and prophylactic treatment in patients with von Willebrand disease (SWIFT-VWD study)

Long-term impact of joint bleeds in von Willebrand disease: a nested case-control study

Feasibility of the Von Willebrand disease PREVENT tria

Dominant Type 1 von Willebrand Disease Caused by Mutated Cysteine Residues in the D3 Domain of von Willebrand Factor

Screening of female family members of von Willebrand disease patients: utility of a modified screening tool in a high‐risk population

Von Willebrand disease mutation spectrum and associated mutation mechanisms

Type 3 Von Willebrand Disease: A Case Report of a Rare Entity

c.4136 G>T

Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor

Life-threatening subdural hematoma after aortic valve replacement in a patient with Heyde syndrome: a case report

Cryptic non-canonical splice site activation ispart of the mechanism that abolishesmultimer organization in the c.2269_2270delvon Willebrand factor

A Child With Hereditary Spherocytosis Associated With Von Willebrand’s Disease: A Case Report From Saudi Arabia

von Willebrand factor disruption and continuous-flow circulatory devices

Type 2N von Willebrand disease: Characterization and diagnostic difficulties

Is von Willebrand disease linked to cholesteatoma aetiology?

A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers

von Willebrand factor antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene

Application of a strain rate gradient microfluidic device to von Willebrand's disease screening

The Association of Aging With Von Willebrand Factor Levels and Bleeding Risk in Type 1 Von Willebrand Disease

Enhanced Local Disorder in a Clinically Elusive von Willebrand Factor Provokes High-Affinity Platelet Clumping

Management of pregnancy and emergency caesarean delivery in a patient with type IIB von Willebrand disease and severe preeclampsia: A case report and literature review

Monitoring Therapy during Treatment of von Willebrand Disease

Use of a thrombopoietin receptor agonist in von Willebrand disease type 2B (p.V1316M) with severe thrombocytopenia and intracranial hemorrhage

Protein S gene mutation c.946C > T (p.R316C) contributed to ischemic stroke in a man with von Willebrand disease type 3 caused by two novel VWF gene mutations, c.2328delT (p.A778Lfs* 23) and c.6521G > T (p.C2174F)

Protein S gene mutation c.946C > T (p.R316C) contributed to ischemic stroke in a man with von Willebrand disease type 3 caused by two novel VWF gene mutations, c.2328delT (p.A778Lfs* 23) and c.6521G > T (p.C2174F)

Evaluation of an heterogeneous group of patients with von Willebrand disease using an assay alternative to ristocetin induced platelet agglutination

Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses

Role of calcium in regulating the intra- and extracellular cleavage of von Willebrand factor by the protease ADAMTS13

65‐year‐old male

A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias

A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias

A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias

A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias

A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias

A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Case Report: Lethal neonatal hypertrophic cardiomyopathy from compound heterozygous MYBPC3 variants

Mutation of the MYL3 gene in a patient with mid-ventricular obstructive hypertrophic cardiomyopathy

MicroRNA expression profiles in familial hypertrophic cardiomyopathy with myosin-binding protein C3 (MYBPC3) gene mutations

Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human Induced Pluripotent Stem Cells

VWF collagen (types III and VI)‐binding defects in a cohort of type 2M VWD patients – a strategy for improvement of a challenging diagnosis

Validation of automated latex von Willebrand factor activity assay in a new prospective study including post‐treatment patient samples

Diagnosis and Treatment of von Willebrand Disease and Rare Bleeding Disorders

Noncanonical type 2B von Willebrand disease associated with mutations in the VWF D′D3 and D4 domains

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

Molecular diagnosis of von Willebrand disease L. Baronciani Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Luigi Villa Foundation, Milan, ItalySearch for more papers by this author A. Goodeve Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Sheffield, UKSearch for more papers by this author F. Peyvandi Corresponding Author flora.peyvandi@unimi.it orcid.org/http://orcid.org/0000-0001-7423-9864 Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Luigi Villa Foundation, Milan, Italy Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy Correspondence: Flora Peyvandi, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Luigi Villa Foundation; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, via Pace 9, 20122 Milan, Italy. Tel.: +39 02 5503 4456; fax: +39 02 5410 0125; e‐mail: flora.peyvandi@unimi.itSearch for more papers by this author

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

Clinical, Phenotypic and Genotypic Characteristics of Von Willebrand Disease in Afro-Caribbeans: Results From a Study in Martinique Island, French West Indies

Characterizing Polymorphisms and Allelic Diversity of von Willebrand Factor Gene in the 1000 Genomes

Efficacy of Octocog Alfa (Advate) in a Child with Type 3 von Willebrand Disease and Alloantibodies

Comparative analysis of von Willebrand factor profiles after implantation of left ventricular assist device and total artificial heart

Origin and timing of de novo variants implicated in type 2 von Willebrand disease

Increased Vasoocclusive Crises in “O” Blood Group Sickle Cell Disease Patients: Association with Underlying Thrombospondin Levels

Prevalence and characterization of anti-VWF antibodies in apopulation of patients with type 3 VWD

Thrombocytopenia Pitfalls: Misdiagnosing Type 2B von Willebrand Disease as Ethylenediaminetetraacetic Acid-Dependent Pseudothrombocytopenia

p.Val1316Met

Comparison of an automated chemiluminescent assay to a manual ELISA assay for determination of von Willebrand Factor collagen binding activity on VWD plasma patients previously diagnosed through molecular analysis of VWF

Angiodysplasia in von Willebrand disease: Understanding the clinical and basic science

Type 1 von Willebrand Disease in a Pediatric Patient Caused by a Novel Heterozygous Deletion of Exons 1 to 6 of the von Willebrand Factor Gene: A Case Report

Current challenges in the diagnosis and management of patients with inherited von Willebrand’s disease in Italy: an Expert Meeting Report on the diagnosis and surgical and secondary long-term prophylaxis

Discrepant platelet and plasma von Willebrand factor (VWF) in von Willebrand disease (VWD) patients with p.Pro2808Leufs*24