Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.W1144G
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VWF

NM_000552.5:p.W1144G

Associated Papers

Application of genetic testing for the diagnosis of von Willebrand disease.

Seidizadeh O et al.

Journal of Thrombosis and Haemostasis : Jth, 2024

Analysis of von Willebrand Disease in the "Heart of Europe".

Vangenechten I et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 2022

Molecular pathogenesis and heterogeneity in type 3 VWD families in U.S. Zimmerman program.

Christopherson PA et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

Von Willebrand Factor Multimer Densitometric Analysis: Validation of the Clinical Accuracy and Clinical Implications in Von Willebrand Disease.

Boender J et al.

Hemasphere, 2021

The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Sun J et al.

Genomics, Proteomics & Bioinformatics, 2020

32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6

Improving diagnosis of von Willebrand disease: Reference ranges for von Willebrand factor multimer distribution.

Vangenechten I et al.

Research and Practice in Thrombosis and Haemostasis, 2020

32864553 (PubMed )
Supplement: RTH2-4-1024-s004.xlsx › Blad2

The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.

Yadegari H et al.

Hamostaseologie, 2020

Analysis of von Willebrand Disease in the South Moravian Population (Czech Republic): Results from the BRNO-VWD Study.

Vangenechten I et al.

Thrombosis and Haemostasis, 2019

von Willebrand factor clearance - biological mechanisms and clinical significance.

O'Sullivan JM et al.

British Journal of Haematology, 2018

A comparative analysis of different automated von Willebrand factor glycoprotein Ib-binding activity assays in well typed von Willebrand disease patients.

Vangenechten I et al.

Journal of Thrombosis and Haemostasis : Jth, 2018

Von Willebrand factor processing.

Brehm MA

Hamostaseologie, 2017

von Willebrand factor propeptide: biology and clinical utility.

Haberichter SL

Blood, 2015

von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor.

Brehm MA et al.

Thrombosis and Haemostasis, 2014

New development in von Willebrand disease.

Castaman G

Current Opinion in Hematology, 2013

Clearance of von Willebrand factor.

Casari C et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

The molecular genetics of von Willebrand disease.

Berber E

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2012

Advances in the diagnosis and management of type 1 von Willebrand disease.

Castaman G et al.

Expert Review of Hematology, 2011

von Willebrand's disease diagnosis and laboratory issues.

Castaman G et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010

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

Schneppenheim R et al.

Blood, 2010

Accelerated clearance alone explains ultra-large multimers in von Willebrand disease Vicenza.

Gézsi A et al.

Journal of Thrombosis and Haemostasis : Jth, 2010

The genetic basis of von Willebrand disease.

Goodeve AC

Blood Reviews, 2010

Genetic testing for von Willebrand disease: the case against.

Favaloro EJ

Journal of Thrombosis and Haemostasis : Jth, 2010

Genotype/phenotype association in von Willebrand disease: is the glass half full or empty?

Lillicrap D

Journal of Thrombosis and Haemostasis : Jth, 2009

Reduced von Willebrand factor survival in von Willebrand disease: pathophysiologic and clinical relevance.

Castaman G et al.

Journal of Thrombosis and Haemostasis : Jth, 2009

Laboratory testing for von Willebrand disease: toward a mechanism-based classification.

Torres R et al.

Clinics in Laboratory Medicine, 2009

Laboratory diagnosis and molecular classification of von Willebrand disease.

Gadisseur A et al.

Acta Haematologica, 2009

Laboratory diagnosis of von Willebrand disease type 1/2E (2A subtype IIE), type 1 Vicenza and mild type 1 caused by mutations in the D3, D4, B1-B3 and C1-C2 domains of the von Willebrand factor gene. Role of von Willebrand factor multimers and the von Willebrand factor propeptide/antigen ratio.

Gadisseur A et al.

Acta Haematologica, 2009

Von Willebrand factor propeptide makes it easy to identify the shorter Von Willebrand factor survival in patients with type 1 and type Vicenza von Willebrand disease.

Sztukowska M et al.

British Journal of Haematology, 2008

Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD).

Haberichter SL et al.

Blood, 2008

Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD).

Budde U et al.

Journal of Thrombosis and Haemostasis : Jth, 2008

Genetics of type 1 von Willebrand disease.

Goodeve A

Current Opinion in Hematology, 2007

Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).

Goodeve A et al.

Blood, 2007

Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival.

Haberichter SL et al.

Blood, 2006

Genetic mutations in von Willebrand disease identified by DHPLC and DNA sequence analysis.

Kakela JK et al.

Molecular Genetics and Metabolism, 2006

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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."