about
Genetic testing in bleeding disordersF8 genetic analysis strategies when standard approaches fail.Historical review on genetic analysis in hemophilia A.Evidence of pathogenicity of a mutation in 3' untranslated region causing mild haemophilia A.Combined coagulation factor VIII and factor IX deficiency (CDF8F9) in a patient from Lithuania.An in silico and in vitro approach to elucidate the impact of residues flanking the cleavage scissile bonds of FVIII.Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats.Deep intronic 'mutations' cause hemophilia A: application of next generation sequencing in patients without detectable mutation in F8 cDNA.Novel characterization of a breakpoint in F8: an individualized approach to gene analysis when PCR and MLPA results contradict.F8 gene: embedded in a region of genomic instability representing a hotspot of complex rearrangements.Variants in FIX propeptide associated with vitamin K antagonist hypersensitivity: functional analysis and additional data confirming the common founder mutations.Identification and functional characterization of a novel F5 mutation (Ala512Val, FVB onn ) associated with activated protein C resistance.Haemophilia A mutations in patients with non-severe phenotype associated with a discrepancy between one-stage and chromogenic factor VIII activity assays.In silico and in vitro evaluation of the impact of mutations in non-severe haemophilia A patients on assay discrepanciesRisk stratification integrating genetic data for factor VIII inhibitor development in patients with severe hemophilia A.
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P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
B Pezeshkpoor
@en
B Pezeshkpoor
@nl
type
label
B Pezeshkpoor
@en
B Pezeshkpoor
@nl
prefLabel
B Pezeshkpoor
@en
B Pezeshkpoor
@nl
P31
P496
0000-0002-4796-3424