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Browsing SoAS - Scholarly Publications by Author "Pezeshkpoor, B."

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Browsing SoAS - Scholarly Publications by Author "Pezeshkpoor, B."

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  • Deep intronic ‘mutations’ cause hemophilia A 
    El Maarri, O.; Nanda, I.; Marquardt, N.; Zimmer, N.; Pezeshkpoor, B. (2017-09-14)
    In a small group of typical hemophilia A (HA) patients no mutations in the F8 coding sequence (cDNA) could be found. In the current study, we performed a systematic screening of genetic and non-genetic parameters associated ...
  • Evidence of pathogenicity of a mutation in 3′ untranslated region causing mild haemophilia A 
    El Maarri, O.; Pezeshkpoor, B.; Berkemeier, A-C.; Oldenburg, J.; Czogalla, K.J. (2017-09-15)
    Introduction Despite the high mutation detection rate, in a small group of haemophilia A patients, using current screening methods, no causal mutation in F8 can be detected. In such cases, the causal mutation might be ...
  • F8 genetic analysis strategies when standard approaches fail 
    El Maarri, O.; Pezeshkpoor, B.; Pavlova, A.; Oldenburg, J. (2017-09-15)
    Haemophilia A is a common X-linked recessive disorder caused by mutations in F8 leading to deficiency or dysfunction of coagulant factor VIII (FVIII). Despite tremendous improvements in mutation screening methods, in ...
  • Genetic testing in bleeding disorders 
    El Maarri, O.; Perry, D.J.; Oldenburg, J.; Pezeshkpoor, B. (2017-09-15)
    The aim of molecular genetic analysis in families with haemophilia is to identify the causative mutation in an affected male as this provides valuable information for the patient and his relatives. For the patient, mutation ...
  • Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats 
    El Maarri, O.; Pezeshkpoor, B.; Rost, S.; Oldenburg, J. (2017-09-14)
    Background:   Intrachromosomal homologous recombination between inverted repeats on the X chromosome account for about half of severe hemophilia A cases. Repeats in F8 intron 1 and intron 22 can recombine with homologous ...
  • Novel characterization of a breakpoint in F8 
    El-Maarri, O.; Williams, M.D.; Pezeshkpoor, B.; Theophilus, B.D.M.; Guillatt, A.M.; Oldenburg, J. (2017-11-23)
    Haemophilia A is an X-linked bleeding disorder caused by heterogeneous mutations in the F8 gene. Two inversion hotspots in intron 22 and intron 1, as well as point mutations, small insertions and deletions in the F8 gene ...

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