Associated Papers
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
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
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
Coexpression of factor VIII and factor von Willebrand variants in a woman with heavy menstrual bleeding.
Casini A et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 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
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 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
Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia.
Lago J et al.
Genes, 2021
Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.
Gindele R et al.
Life (basel, Switzerland), 2021
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
Genetic risk factors for venous thromboembolism.
Zöller B et al.
Expert Review of Hematology, 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
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
NIPS, a 3D network-integrated predictor of deleterious protein SAPs, and its application in cancer prognosis.
Wang B et al.
Scientific Reports, 2018
Molecular characterization of exon 28 of von Willebrand's factor gene in Nigerian population.
Ezigbo ED et al.
Nigerian Journal of Clinical Practice, 2017
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Raaijmakers MI et al.
Oncotarget, 2016
Similarity in joint and mucous bleeding syndromes in type 2N von Willebrand disease and severe hemophilia A coexisting with type 1 von Willebrand disease in two Chinese pedigrees.
Qin HH et al.
Blood Cells, Molecules & Diseases, 2014
Clinical profile of the association of P.R1205h and P.R924q in a patient with von Willebrand's disease.
Woods AI et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013
von Willebrand disease.
James PD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
Genetic determinants of von Willebrand factor levels and activity in relation to the risk of cardiovascular disease: a review.
van Schie MC et al.
Journal of Thrombosis and Haemostasis : Jth, 2011
[Phenotype and genotype analysis of three Chinese pedigrees with von Willebrand disease].
Qin HH et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2011
von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels.
Hickson N et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
The mutation spectrum associated with type 3 von Willebrand disease in a cohort of patients from the north west of England.
Sutherland MS et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009
A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3.
Sutherland MS et al.
Blood, 2009
An Alu-mediated novel large deletion is the most frequent cause of type 3 von Willebrand disease in Hungary.
Mohl A et al.
Journal of Thrombosis and Haemostasis : Jth, 2008
The molecular analysis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organisation Haemophilia Genetics Laboratory Network.
Keeney S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008
[A case of von Willebrand disease type 3 misdiagnosed as hemophilia A].
Lee AC et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007