Search Results - "El Mouatassim, Said"

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  1. 1

    Expression profile of genes coding for DNA repair in human oocytes using pangenomic microarrays, with a special focus on ROS linked decays by Menezo, Jr, Yves, Russo, GianLuigi, Tosti, Elisabetta, El Mouatassim, Said, Benkhalifa, Moncef

    “…To determine the level of expression for mRNAs that regulate DNA repair activity in oocytes at the germinal vesicle (GV) stage. Reactive oxygen species (ROS)…”
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    Journal Article
  2. 2

    A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report by Cherkaoui Jaouad, Imane, Zrhidri, Abdelali, Jdioui, Wafaa, Lyahyai, Jaber, Raymond, Laure, Egéa, Grégory, Taoudi, Mohamed, El Mouatassim, Said, Sefiani, Abdelaziz

    Published in BMC medical genetics (18-07-2018)
    “…Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by a reduced head…”
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    Journal Article
  3. 3

    Genetic expression of monocarboxylate transporters during human and murine oocyte maturation and early embryonic development by Hérubel, François, El Mouatassim, Said, Guérin, Pierre, Frydman, René, Ménézo, Yves

    Published in Zygote (Cambridge) (01-05-2002)
    “…During the early preimplantationes of human embryos, pyruvate and lactate, but not glucose, are the preferred energy substrates. Transport of these…”
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    Journal Article
  4. 4

    Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report by Adadi, Najlae, Sahli, Maryem, Egéa, Grégory, Ratbi, Ilham, Taoudi, Mohamed, Zniber, Layla, Jdioui, Wafaa, El Mouatassim, Said, Sefiani, Abdelaziz

    Published in Journal of medical case reports (29-10-2018)
    “…Pompe disease is an autosomal recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle…”
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    Journal Article
  5. 5

    Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease by Zrhidri, Abdelali, Amasdl, Saadia, Lyahyai, Jaber, Elouardi, Hanane, Chkirate, Bouchra, Raymond, Laure, Egéa, Grégory, Taoudi, Mohamed, El Mouatassim, Said, Sefiani, Abdelaziz

    Published in Pediatric rheumatology online journal (26-09-2017)
    “…Scleroderma is a multisystem disease, characterized by fibrosis of skin and internal organs, immune dysregulation, and vasculopathy. The etiology of the…”
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    Journal Article
  6. 6

    Mammalian oviduct and protection against free oxygen radicals: expression of genes encoding antioxidant enzymes in human and mouse by El Mouatassim, Saı̈d, Guérin, Pierre, Ménézo, Yves

    “…Genetic expression of five antioxidant enzymes involved in mechanisms protecting embryos against reactive oxygen species (ROS) was studied in human and mouse…”
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    Book Review Journal Article
  7. 7

    Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature by Zrhidri, Abdelali, Jaouad, Imane Cherkaoui, Lyahyai, Jaber, Raymond, Laure, Egéa, Grégory, Taoudi, Mohamed, El Mouatassim, Said, Sefiani, Abdelaziz

    Published in Gene (10-09-2017)
    “…Frank-Ter Haar syndrome (FTHS) is an autosomal-recessive disorder characterized by skeletal, cardio-vascular, and eye abnormalities, such as increased…”
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    Journal Article
  8. 8

    APEX/Ref-1 (apurinic/apyrimidic endonuclease DNA-repair gene) expression in human and ascidian (Ciona intestinalis) gametes and embryos by El-Mouatassim, Said, Bilotto, Stefania, Russo, Gian Luigi, Tosti, Elisabetta, Menezo, Yves

    Published in Molecular human reproduction (01-08-2007)
    “…In recent years, the impact of sperm DNA damage on fertility has become an important issue. The different technologies developed to check sperm DNA…”
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    Journal Article
  9. 9

    Glucose metabolism during the final stage of human oocyte maturation: genetic expression of hexokinase, glucose phosphate isomerase and phosphofructokinase by el Mouatassim, S, Hazout, A, Bellec, V, Menezo, Y

    Published in Zygote (Cambridge) (01-02-1999)
    “…The low involvement of glucose metabolism in early preimplantation embryos has suggested the presence of metabolic blocks in the glycolytic pathway. Genetic…”
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    Journal Article