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)

scientific article published on 19 September 2006

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) is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1182/BLOOD-2006-05-020784
P698PubMed publication ID16985174

P50authorReinhard SchneppenheimQ40927877
Jeroen C J EikenboomQ42337451
Anne C GoodeveQ42337454
Javier BatlleQ58303365
Mohammad Hashemi SotehQ80292490
P2093author name stringDominique Meyer
Francesco Rodeghiero
Ulrich Budde
Lars Holmberg
Stefan Lethagen
Giancarlo Castaman
Augusto B Federici
Claudine Mazurier
Jenny Goudemand
David Habart
Will Lester
John Pasi
Christer Hallden
Frank Hill
Andrea Guilliatt
Luciano Baronciani
Jorgen Ingerslev
Ian Peake
Zdena Vorlova
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectphenotypeQ104053
P304page(s)112-121
P577publication date2006-09-19
P1433published inBloodQ885070
P1476titlePhenotype 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)
P478volume109

Reverse relations

cites work (P2860)
Q36822738A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture
Q34909055A phase II prospective open-label escalating dose trial of recombinant interleukin-11 in mild von Willebrand disease
Q30578631A variational Bayes discrete mixture test for rare variant association
Q47350762Advances in the diagnosis and treatment of Von Willebrand disease
Q49989077Advances in the diagnosis and treatment of Von Willebrand disease.
Q39143793An intact PDZ motif is essential for correct P2Y12 purinoceptor traffic in human platelets.
Q83025477Antihemophilic Factor/von Willebrand Factor Complex (Human), Dried, Pasteurized
Q37175593Autosomal dominant C1149R von Willebrand disease: phenotypic findings and their implications.
Q39420582Biogenesis of Weibel-Palade bodies in von Willebrand's disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation
Q92273594Bleeding Symptoms and von Willebrand Factor Levels: 30-Year Experience in a Tertiary Care Center
Q36743353Cellular and molecular basis of von Willebrand disease: studies on blood outgrowth endothelial cells
Q36369902Changes in von Willebrand factor level and von Willebrand activity with age in type 1 von Willebrand disease
Q30535420Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes
Q45868176Clinical and laboratory phenotype variability in type 2M von Willebrand disease
Q36920462Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States
Q43137286Clinical and laboratory versus molecular markers for a correct classification of von Willebrand disease
Q37552712Clinical features and types of von Willebrand disease in women with menorrhagia referred to hematology clinic of kermanshah
Q34873778Clinical utility gene card for: von Willebrand disease
Q37367262Collagen binding provides a sensitive screen for variant von Willebrand disease
Q30411744Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project
Q57094753Common sequence variants associated with higher VWF and FVIII are less frequent in subjects diagnosed with type 1 VWD
Q37259155Comparison of type I, type III and type VI collagen binding assays in diagnosis of von Willebrand disease
Q30555005Critical von Willebrand factor A1 domain residues influence type VI collagen binding
Q41620644Current and Emerging Options for the Management of Inherited von Willebrand Disease.
Q90670328Current approaches to diagnostic testing in von Willebrand Disease
Q26796446Current controversies in the diagnosis and management of von Willebrand disease
Q57095004Current issues in diagnosis and treatment of von Willebrand disease
Q39027896Diagnosing von Willebrand disease: genetic analysis
Q33608224Diagnosis and Treatment of von Willebrand Disease and Rare Bleeding Disorders
Q35220634Diagnostic approach to von Willebrand disease
Q34336631Effect of genetic variation in STXBP5 and STX2 on von Willebrand factor and bleeding phenotype in type 1 von Willebrand disease patients.
Q34792758Effect of the VWF promoter (GT)n repeat and single-nucleotide polymorphism c.-2527G>A on circulating von Willebrand factor levels under normal conditions
Q47416217Evaluation of a microfluidic flow assay to screen for von Willebrand disease and low von Willebrand factor levels
Q82541258Functional analysis of three recombinant A1-VWF domain mutants in comparison to wild type and plasma-derived VWF facilitates subtyping in type 2 von Willebrand disease
Q42664083Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L.
Q34310576Functional characterization of a 13-bp deletion (c.-1522_-1510del13) in the promoter of the von Willebrand factor gene in type 1 von Willebrand disease.
Q34667787Gain-of-function GPIb ELISA assay for VWF activity in the Zimmerman Program for the Molecular and Clinical Biology of VWD.
Q93092084Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients
Q37349860Genetic alteration of the D2 domain abolishes von Willebrand factor multimerization and trafficking into storage
Q91675224Genetic regulation of plasma von Willebrand factor levels in health and disease
Q34663589Genetic sequence analysis of inherited bleeding diseases
Q37351431Genome-wide association studies identify genetic loci for low von Willebrand factor levels
Q93196766How I manage severe von Willebrand disease
Q26738507Human von Willebrand factor/factor VIII concentrates in the management of pediatric patients with von Willebrand disease/hemophilia A
Q35859255Identification and Characterization of Novel Variations in Platelet G-Protein Coupled Receptor (GPCR) Genes in Patients Historically Diagnosed with Type 1 von Willebrand Disease
Q50965737Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.
Q90665235Identification of a missense mutation (p.Leu1733Pro) in the A3 domain of von Willebrand factor in a family with type 2M von Willebrand disease
Q36658007Identification 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).
Q99631229Improving diagnosis of von Willebrand disease: Reference ranges for von Willebrand factor multimer distribution
Q41808379Intracellular storage and regulated secretion of von Willebrand factor in quantitative von Willebrand disease
Q34750409Laboratory aspects of von Willebrand disease: test repertoire and options for activity assays and genetic analysis
Q37576572Laboratory testing for von Willebrand disease: toward a mechanism-based classification
Q97551370Low VWF: insights into pathogenesis, diagnosis, and clinical management
Q30433859Modifiers of von Willebrand factor identified by natural variation in inbred strains of mice
Q93035730Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses
Q47165791Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.
Q37602557Molecular testing for disorders of hemostasis
Q36417697New insights into genotype and phenotype of VWD.
Q39027900New treatment approaches to von Willebrand disease.
Q36814657No increase in bleeding identified in type 1 VWD subjects with D1472H sequence variation
Q47793791Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels
Q86199659Optimization of the automated, CS-2000i™ method for measuring low levels of von Willebrand factor ristocetin cofactor activity (VWF:RCo)
Q34923853Pathologic mechanisms of type 1 VWD mutations R1205H and Y1584C through in vitro and in vivo mouse models
Q37703427Perils, problems, and progress in laboratory diagnosis of von Willebrand disease
Q38414457Plasma von Willebrand factor multimer quantitative analysis by in-gel immunostaining and infrared fluorescent imaging
Q42337433Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort
Q35536246Porcine and canine von Willebrand factor and von Willebrand disease: hemostasis, thrombosis, and atherosclerosis studies
Q36805813Principles of care for the diagnosis and treatment of von Willebrand disease
Q37119655Prophylaxis of bleeding episodes in patients with von Willebrand's disease
Q35006603Protein replacement therapy and gene transfer in canine models of hemophilia A, hemophilia B, von willebrand disease, and factor VII deficiency
Q28607764Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF
Q34439244Rare platelet GPCR variants: what can we learn?
Q36944968Report on von Willebrand Disease in Malaysia
Q55431354Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.
Q45871569The Association of Aging With Von Willebrand Factor Levels and Bleeding Risk in Type 1 Von Willebrand Disease.
Q28830861The European Hematology Association Roadmap for European Hematology Research: a consensus document
Q37078876The Role of Bleeding History and Clinical Markers for the Correct Diagnosis of VWD
Q34816051The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology
Q37524379The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles
Q26996413The molecular characterization of von Willebrand disease: good in parts
Q37193881The molecular genetics of von Willebrand disease
Q41919816The role of exon 45 and 16 in the pathogenesis of Von Willebrand disease in Iranian Patients
Q34185963Third Åland islands conference on von Willebrand disease, 26-28 September 2012: meeting report.
Q37602563Translational medicine advances in von Willebrand disease
Q35849223VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population
Q42937413VWF propeptide and ratios between VWF, VWF propeptide, and FVIII in the characterization of type 1 von Willebrand disease
Q37253917Von Willebrand disease in the United States: a perspective from Wisconsin
Q58781583Von Willebrand disease in the elderly: clinical perspectives
Q30240214What have we learned from large population studies of von Willebrand disease?
Q85963378[The research progress of Von Willebrand disease]
Q55053921von Willebrand disease.
Q37635167von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy
Q26863636von Willebrand disease: clinical and laboratory lessons learned from the large von Willebrand disease studies
Q36143225von Willebrand factor propeptide: biology and clinical utility
Q37376222von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels.

Search more.