Condition: von Willebrand Disease


rs121964895 in VWF gene and von Willebrand Disease PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

PMID 23426949 2013 We examined BOECs derived from a single subject heterozygous for a type 2N mutation (p.Arg854Gln) and from 4 patients with type 1 VWD who were, respectively, heterozygous for p.Ser1285Pro, p.Leu1307Pro, p.Tyr1584Cys, and p.Cys2693Tyr.

PMID 8500791 1993 Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation.

PMID 1832934 1991 Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease.

PMID 1581215 1992 A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele.

PMID 22875612 2013 A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.

PMID 21371195 2011 Validation of the first commercial ELISA for type 2N von Willebrand's disease diagnosis.

PMID 16985174 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).

PMID 20409624 2010 The genetic basis of von Willebrand disease.

PMID 18712522 2009 Novel missense mutation c.2685G>C (p.Q895H) in VWF gene associated with very low levels of VWF mRNA.

PMID 23636243 2013 Compromised shear-dependent cleavage of type 2N von Willebrand factor variants by ADAMTS13 in the presence of factor VIII.

PMID 1918030 1991 Abnormal binding of factor VIII is linked with the substitution of glutamine for arginine 91 in von Willebrand factor in a variant form of von Willebrand disease.

PMID 15461624 2004 Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene.

PMID 22197721 2012 VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.

PMID 1906877 1991 Molecular characterization of a unique von Willebrand disease variant. A novel mutation affecting von Willebrand factor/factor VIII interaction.

PMID 16953269 2006 Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide.

PMID 8486782 1993 von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure.

PMID 24675615 2014 Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.

PMID 18805962 2009 Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients.

PMID 18485763 2008 Genetic defects in von Willebrand disease type 3 in Indian and Greek patients.

PMID 21534937 2011 Variation in the VWF gene in Swedish patients with type 1 von Willebrand Disease.

PMID 11325649 2001 The amino acid change C1227R, predicted by the mutation 4135C-->T, was identified as a compound heterozygote in a patient with moderately severe type 1 vWD.

PMID 20305138 2010 Reduced survival of type 2B von Willebrand factor, irrespective of large multimer representation or thrombocytopenia.

PMID 26456374 2015 Higher and lower active circulating VWF levels: different facets of von Willebrand disease.

PMID 23110044 2012 Structural basis of type 2A von Willebrand disease investigated by molecular dynamics simulations and experiments.

PMID 17681836 2007 Molecular study of VWF gene from Mexican Mestizo patients with von Willebrand disease, and the finding of three new mutations.

PMID 16221672 2006 ADAMTS13 substrate recognition of von Willebrand factor A2 domain.

PMID 16322474 2006 We used recombinant human ADAMTS13 (rhuADAMTS13) to digest recombinant full-length VWF and a VWF fragment spanning the VWF A1 through A3 domains, harboring 13 different VWD type 2A mutations (C1272S, G1505E, G1505R, S1506L, M1528V, R1569del, R1597W, V1607D, G1609R, I1628T, G1629E, G1631D, and E1638K).

PMID 24712919 2014 Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease.

PMID 22102201 2011 Diagnosis and management of von Willebrand disease in a single institution of Argentina.

PMID 1673047 1991 Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr).

PMID 17190853 2007 The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.

PMID 19566550 2009 Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study.

PMID 21393328 2011 An apparently silent nucleotide substitution (c.7056C>T) in the von Willebrand factor gene is responsible for type 1 von Willebrand disease.

PMID 27532107 2016 Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.

PMID 23335371 2013 Mutations in the A3 domain of von Willebrand factor inducing combined qualitative and quantitative defects in the protein.

PMID 26986123 2016 A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

PMID 18449422 2008 Survival of von Willebrand factor released following DDAVP in a type 1 von Willebrand disease cohort: influence of glycosylation, proteolysis and gene mutations.