Search filters

List of works by Behnaz Pezeshkpoor

An in silico and in vitro approach to elucidate the impact of residues flanking the cleavage scissile bonds of FVIII.

scientific article published on 6 July 2017

Combined coagulation factor VIII and factor IX deficiency (CDF8F9) in a patient from Lithuania

scientific article published on November 2016

Deep intronic 'mutations' cause hemophilia A: application of next generation sequencing in patients without detectable mutation in F8 cDNA.

scientific article published in September 2013

Evidence of pathogenicity of a mutation in 3' untranslated region causing mild haemophilia A.

scientific article published on 24 May 2016

F8 gene: embedded in a region of genomic instability representing a hotspot of complex rearrangements.

scientific article published on 4 May 2015

F8 genetic analysis strategies when standard approaches fail.

scientific article published on 03 December 2013

Genetic testing in bleeding disorders

scientific article

Haemophilia A mutations in patients with non-severe phenotype associated with a discrepancy between one-stage and chromogenic factor VIII activity assays.

scientific article published on 23 January 2014

Historical review on genetic analysis in hemophilia A.

scientific article

Identification and functional characterization of a novel F5 mutation (Ala512Val, FVB onn ) associated with activated protein C resistance.

scientific article published on 19 April 2016

Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats.

scientific article

In silico and in vitro evaluation of the impact of mutations in non-severe haemophilia A patients on assay discrepancies

scientific article published on 17 April 2019

Novel characterization of a breakpoint in F8: an individualized approach to gene analysis when PCR and MLPA results contradict.

scientific article published on 27 January 2015

Risk stratification integrating genetic data for factor VIII inhibitor development in patients with severe hemophilia A.

scientific article published on 13 June 2019

Variants in FIX propeptide associated with vitamin K antagonist hypersensitivity: functional analysis and additional data confirming the common founder mutations.

scientific article published on 15 February 2018

Paulina is supported by:

About Paulina

Help