Search Results - "El Mouatassim, Said"
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Expression profile of genes coding for DNA repair in human oocytes using pangenomic microarrays, with a special focus on ROS linked decays
Published in Journal of assisted reproduction and genetics (01-11-2007)“…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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A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report
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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Genetic expression of monocarboxylate transporters during human and murine oocyte maturation and early embryonic development
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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Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
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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Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease
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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Mammalian oviduct and protection against free oxygen radicals: expression of genes encoding antioxidant enzymes in human and mouse
Published in European Journal of Obstetrics and Gynecology (01-03-2000)“…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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Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature
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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APEX/Ref-1 (apurinic/apyrimidic endonuclease DNA-repair gene) expression in human and ascidian (Ciona intestinalis) gametes and embryos
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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Glucose metabolism during the final stage of human oocyte maturation: genetic expression of hexokinase, glucose phosphate isomerase and phosphofructokinase
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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