Genetic testing for von Willebrand disease: the case against (original) (raw)
Classification of exon 18 linked variants of VWF gene in von Willebrand disease
Sara Alavi
International journal of molecular epidemiology and genetics, 2012
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Novel missense mutation c.2685G>C (p.Q895H) in VWF gene associated with very low levels of VWF mRNA
N. Cabrera
Annals of Hematology, 2009
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Phenotypic and Genotypic Signatures of VWF Exon 18 in Eastern Saudi Patients Previously Diagnosed with Type 1 von Willebrand Disease
Professor Fathelrahman Gameel
International Journal of General Medicine
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Genetic Variations in Exon 3 of VWF Gene in Patients with Von Willebrand Disease (VWD) from South-West Iran
Majid Yavarian
Iranian journal of pediatric hematology and oncology, 2012
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Variation in the VWF Gene in Swedish Patients with Type 1 von Willebrand Disease
Torbjörn Säll
Annals of Human Genetics, 2011
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Polymorphic 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
Jeroen Eikenboom
Haematologica, 2010
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Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene: New mutations, R1315C and R1341W, associated with type 2M and 2B variants
Jose Lorenzo
American Journal of Hematology, 1998
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Common large partial VWF gene deletion does not cause alloantibody formation in the Hungarian type 3 von Willebrand disease population
Beáta Vilimi
Journal of Thrombosis and Haemostasis, 2011
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Significant linkage and non-linkage of type 1 von Willebrand disease to the von Willebrand factor gene
francisco martinez
British Journal of Haematology, 2001
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The genetic basis of von Willebrand disease
Anne C Goodeve
Blood Reviews, 2010
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Multiple von Willebrand factor mutations in patients with recessive type 1 von Willebrand disease
Letizia Bernardo
Thrombosis …, 2007
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The Molecular Genetics of von Willebrand Disease Von Willebrand Hastaliği'nin Moleküler Genetiği
Ergul Berber
2012
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The Molecular Genetics of von Willebrand Disease
Ergul Berber
Turkish journal of hematology, 2012
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Common and rare von Willebrand factor (VWF) coding variants, von Willebrand factor levels, and factor VIII levels in African Americans
Shuo Jiao
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Functional 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
Emmanuel Favaloro
Thrombosis Research, 2011
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Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease
Ergul Berber, Maha Othman
Blood, 2003
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Variation at the von Willebrand Factor (vWF) Gene Locus Is Associated With Plasma vWF:Ag Levels: Identification of Three Novel Single Nucleotide Polymorphisms in the vWF Gene Promoter
Yuk-Miu Lam
Blood, 1999
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Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD
Jeroen Eikenboom
Journal of Thrombosis and Haemostasis, 2006
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Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease
Desiree Coen Herak
Croatian Medical Journal
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First identification and expression of a type 2N von Willebrand disease mutation (E1078K) located in exon 25 of von Willebrand factor gene
Roseline d'Oiron
Journal of Thrombosis and Haemostasis, 2004
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Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I
G. Falk
American journal of human genetics, 1992
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Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene
Rafael Parra
Thrombosis and …, 2009
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Effect of the VWF promoter (GT)n repeat and single-nucleotide polymorphism c.-2527G>A on circulating von Willebrand factor levels under normal conditions
Jeroen Eikenboom
Journal of Thrombosis and Haemostasis, 2011
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A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg 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 all
Jeroen Eikenboom
British Journal of Haematology, 2000
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Characterization of mutations identified in patients historically diagnosed with type 1 Von Willebrand disease
Nasher H Alyami
2014
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R924Q substitution encoded within exon 21 of the von Willebrand Factor gene related to mild bleeding phenotype
Adriana Woods
Thrombosis and Haemostasis, 2006
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Sequencing of Exon 28 of von Willebrand Factor and Glycoprotein IB Genes to Identify Type 2B von Willebrand Disease and Platelet Type-Von Willebrand Disease
mohamed farah jama
2012
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Molecular characterization, recombinant protein expression, and mRNA analysis of type 3 von Willebrand disease: Studies of an Italian cohort of 10 patients
Rosanna Asselta
American Journal of Hematology, 2012
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An association of candidate gene haplotypes and bleeding severity in von Willebrand disease (VWD) type 1 pedigrees
DANIEL SALOMON
2004
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A Common VWF Exon 28 Haplotype in the Turkish Population
F. Pehlevan, Ergul Berber
Clinical and Applied Thrombosis/Hemostasis, 2013
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The molecular analysis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors’ Organisation Haemophilia Genetics Laboratory Network
S. Keeney, M. Hill, Anne C Goodeve
Haemophilia, 2008
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Genetic Heterogeneity in a Large Cohort of Indian Type 3 von Willebrand Disease Patients
Kanjaksha Ghosh
PLoS ONE, 2014
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