Hejer Elmahmoudi

Summary

Publications

  1. ncbi Identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia
    Hejer Elmahmoudi
    Laboratory of Genetics, Immunology and Human Pathologies, Tunis, Tunisia
    Diagn Pathol 7:92. 2012
  2. ncbi First report of molecular diagnosis of Tunisian hemophiliacs A: identification of 8 novel causative mutations
    Hejer Elmahmoudi
    Laboratory of Genetics, Immunology and Human Pathologies, Tunis, Tunisia
    Diagn Pathol 7:93. 2012
  3. ncbi Analysis of newly detected mutations in the MCFD2 gene giving rise to combined deficiency of coagulation factors V and VIII
    H Elmahmoudi
    Laboratory of Genetics, Immunology and Human Pathologies, Tunis, Tunisia, Sweden
    Haemophilia 17:e923-7. 2011
  4. ncbi Factor VIII haplotypes frequencies in Tunisian hemophiliacs A
    Hejer Elmahmoudi
    Laboratory of Genetics, Immunology and Human Pathologies, Faculty of Sciences of Tunis, University ElManar, and Hemophilia Treatment Centre, Aziza Othmana Hospital, Tunisia
    Diagn Pathol 6:54. 2011

Detail Information

Publications4

  1. ncbi Identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia
    Hejer Elmahmoudi
    Laboratory of Genetics, Immunology and Human Pathologies, Tunis, Tunisia
    Diagn Pathol 7:92. 2012
    ..VIRTUAL SLIDES: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1288044089753085...
  2. ncbi First report of molecular diagnosis of Tunisian hemophiliacs A: identification of 8 novel causative mutations
    Hejer Elmahmoudi
    Laboratory of Genetics, Immunology and Human Pathologies, Tunis, Tunisia
    Diagn Pathol 7:93. 2012
    ..Molecular studies of these mutations are essential in order to reinforce our understanding of their pathogenic effect responsible for the disorder...
  3. ncbi Analysis of newly detected mutations in the MCFD2 gene giving rise to combined deficiency of coagulation factors V and VIII
    H Elmahmoudi
    Laboratory of Genetics, Immunology and Human Pathologies, Tunis, Tunisia, Sweden
    Haemophilia 17:e923-7. 2011
    ..Our results show that all analysed mutant variants give rise to destabilized proteins and highlight the importance of a structurally intact and functional MCFD2 for the efficient secretion of coagulation factors V and VIII...
  4. ncbi Factor VIII haplotypes frequencies in Tunisian hemophiliacs A
    Hejer Elmahmoudi
    Laboratory of Genetics, Immunology and Human Pathologies, Faculty of Sciences of Tunis, University ElManar, and Hemophilia Treatment Centre, Aziza Othmana Hospital, Tunisia
    Diagn Pathol 6:54. 2011
    ..The aim of this study is to determine the different types of haplotypes in relation with inhibitors developments and their frequencies in our Tunisian hemophiliac population...