Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.D1472H
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VWF

NM_000552.5:p.D1472H

Associated Papers

Structure and multiple functions of von Willebrand factor.

Haberichter SL et al.

Haematologica, 2026

Clinical and laboratory diagnosis of von Willebrand disease.

Tosetto A et al.

Haematologica, 2026

Impact of tranexamic acid on postpartum hemorrhage in type 1 von Willebrand disease treated with recombinant VWF.

Machin NC et al.

Blood Advances, 2025

Diagnosis of von Willebrand disease.

Bowman M et al.

Blood Advances, 2025

Von Willebrand disease diagnosis: from complexity to simplicity.

Thillo QV et al.

Research and Practice in Thrombosis and Haemostasis, 2025

Comparison of genotypes and phenotypes for von Willebrand factor gene variants using Japanese genome database.

Akimoto T et al.

Blood Vessels, Thrombosis & Hemostasis, 2025

Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF.

Atiq F et al.

Blood, 2025

Effect of the Polymorphic Variant p.D1472H on the Platelet-Dependent VWF Activity Assays.

Seidizadeh O et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

Does the VWF:CB Assay Help to Diagnose von Willebrand Factor Deficiency in Patients With a Bleeding Disorder of Unknown Cause?

Trossaërt M et al.

International Journal of Laboratory Hematology, 2025

Challenges and considerations of genetic testing in von Willebrand disease.

Seidizadeh O et al.

Research and Practice in Thrombosis and Haemostasis, 2025

Analytical and Clinical Validation of a Non-Ristocetin Based VWF Assay on 2 Automated Analyzers in a Large Reference Laboratory.

Kumar V et al.

The Journal of Applied Laboratory Medicine, 2024

Hemoglobin concentration and body mass index are determinants of plasma von Willebrand factor and factor VIII levels.

Carter-Febres M et al.

Thrombosis Research, 2024

Evaluation of an automated von Willebrand factor glycoprotein IbM activity assay compared with 3 alternative von Willebrand factor activity assays.

Friedman KD et al.

Research and Practice in Thrombosis and Haemostasis, 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

Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.

Lunghi B et al.

International Journal of Molecular Sciences, 2023

Recombinant von Willebrand factor and tranexamic acid for heavy menstrual bleeding in patients with mild and moderate von Willebrand disease in the USA (VWDMin): a phase 3, open-label, randomised, crossover trial.

Ragni MV et al.

The Lancet. Haematology, 2023

Laboratory diagnosis of von Willebrand disease in the age of the new guidelines: considerations based on geography and resources.

Favaloro EJ et al.

Research and Practice in Thrombosis and Haemostasis, 2023

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

Smock KJ

International Journal of Laboratory Hematology, 2023

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

Alzahrani FM et al.

Journal of Medicine and Life, 2023

Beyond the guidelines: how we approach challenging scenarios in the diagnosis and management of von Willebrand disease.

Abou-Ismail MY et al.

Journal of Thrombosis and Haemostasis : Jth, 2023

Ristocetin dependent cofactor activity in von Willebrand disease diagnosis: Limitations of relying on a single measure.

Christopherson PA et al.

Research and Practice in Thrombosis and Haemostasis, 2022

The Lesson Learned from the New c.2547-1G > T Mutation Combined with p.R854Q: When a Type 2N Mutation Reveals a Quantitative von Willebrand Factor Defect.

Casonato A et al.

Thrombosis and Haemostasis, 2022

Diagnostic Testing for von Willebrand Disease: Trends and Insights from North American Laboratories over the Last Decade.

Ziemba YC et al.

Seminars in Thrombosis and Hemostasis, 2022

Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.

Kalot MA et al.

Blood Advances, 2022

Von Willebrand factor and disease: a review for laboratory professionals.

Harris NS et al.

Critical Reviews in Clinical Laboratory Sciences, 2022

Identification of von Willebrand factor D4 domain mutations in patients of Afro-Caribbean descent: In vitro characterization.

Dubois MD et al.

Research and Practice in Thrombosis and Haemostasis, 2022

Single-cell transcriptional analysis of human endothelial colony-forming cells from patients with low VWF levels.

Ng CJ et al.

Blood, 2022

Von Willebrand disease type 2M: Correlation between genotype and phenotype: Reply to comment from Dr. Favaloro and to comment from Dr. Woods et al.

Maas DPMSM et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

Von Willebrand disease type 2M: Correlation between genotype and phenotype.

Maas DPMSM et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

Whole-exome analysis of adolescents with low VWF and heavy menstrual bleeding identifies novel genetic associations.

Sadler B et al.

Blood Advances, 2022

Von Willebrand Disease: Current Status of Diagnosis and Management.

Weyand AC et al.

Hematology/oncology Clinics of North America, 2021

Molecular classification of blood and bleeding disorder genes.

Baz B et al.

Npj Genomic Medicine, 2021

34272389 (PubMed )
Supplement: 41525_2021_228_MOESM1_ESM.pdf

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

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

Laffan M et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021

Laboratory variability in the diagnosis of type 2 VWD variants.

DiGiandomenico S et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

Obstacles to Early Diagnosis and Treatment of Inherited von Willebrand Disease: Current Perspectives.

Castaman G et al.

Journal of Blood Medicine, 2021

Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Pagliari MT et al.

Plos One, 2021

34662354 (PubMed )
Supplement: pone.0258675.s001.pdf

New developments in von Willebrand disease.

Fogarty H et al.

British Journal of Haematology, 2020

Comparison of von Willebrand factor platelet-binding activity assays: ELISA overreads type 2B with loss of HMW multimers.

Szederjesi A et al.

Journal of Thrombosis and Haemostasis : Jth, 2020

A Combination of Two Variants p. (Val510 =) and p. (Pro2145Thrfs * 5), Responsible for von Willebrand Disease Type 3 in a Caribbean Patient.

Dubois MD et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 2020

von Willebrand factor variant D1472H has no effect in mice with humanized VWF-platelet interactions.

Lohmeier HK et al.

Blood Advances, 2020

Low von Willebrand factor in pediatric patients: Retrospective analysis of 293 cases informs diagnostic and therapeutic decision making.

Shui M et al.

Pediatric Blood & Cancer, 2020

Bleeding disorders in adolescents with heavy menstrual bleeding in a multicenter prospective US cohort.

Zia A et al.

Haematologica, 2020

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

Update on Molecular Testing in von Willebrand Disease.

Batlle J et al.

Seminars in Thrombosis and Hemostasis, 2019

The role of genetics in the pathogenesis and diagnosis of type 1 Von Willebrand disease.

Flood VH et al.

Current Opinion in Hematology, 2019

Utility of thromboelastography for the diagnosis of von Willebrand disease.

Regling K et al.

Pediatric Blood & Cancer, 2019

Establishment of an International Reference Reagent for standardization of von Willebrand factor binding to recombinant glycoprotein Ib (VWF:GPIbM and VWF:GPIbR): Official Communication of the SSC.

Hubbard AR et al.

Journal of Thrombosis and Haemostasis : Jth, 2019

von Willebrand factor/ADAMTS-13 interactions at birth: implications for thrombosis in the neonatal period.

Katneni UK et al.

Journal of Thrombosis and Haemostasis : Jth, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."