A5088839062- Genetics and Neurodevelopmental Disorders
- Glycosylation and Glycoproteins Research
- Sperm and Testicular Function
- Prenatal Screening and Diagnostics
- Cancer Genomics and Diagnostics
- Reproductive Biology and Fertility
- Testicular diseases and treatments
- Epigenetics and DNA Methylation
- Autism Spectrum Disorder Research
- RNA and protein synthesis mechanisms
- Invertebrate Taxonomy and Ecology
- RNA modifications and cancer
- Genomics and Rare Diseases
- Protein Degradation and Inhibitors
- Genomic variations and chromosomal abnormalities
- Ubiquitin and proteasome pathways
- Date Palm Research Studies
- Chromatin Remodeling and Cancer
- HER2/EGFR in Cancer Research
- Monoclonal and Polyclonal Antibodies Research
- Genetic diversity and population structure
University of Biskra
2024
Laboratoire de Génétique Médicale
2015-2016
Hôpital Necker-Enfants Malades
2015-2016
Institut des Maladies Génétiques Imagine
2016
Université Paris Cité
2015
University of Monastir
2015
King Fahad Hospital Jeddah
2015
Inserm
2015
Maternity and Children's Hospital
2015
Centre Hospitalier Intercommunal de Poissy
2008-2012
Key Clinical Message X‐linked intellectual deficiency ( XLID ) is a large group of genetic disorders. MED 12 gene causes syndromic and nonsyndromic forms . Only seven pathological mutations have been identified in this gene. Here, we report novel mutation segregating with phenotype. This could be favor genotype–phenotype correlations.
For nonobstructive azoospermic (NOA) patients with a normal karyotype or for Klinefelter syndrome (47,XXY) patients, intracytoplasmic sperm injection is associated an increased aneuploidy risk in offspring. We examined testicular cells from different azoospermia etiologies to determine the origin of aneuploid spermatozoa. The incidence chromosome abnormalities was investigated all types azoospermia. Four study subgroups were constituted: (group 1), NOA spermatogenesis failure but 2),...
Abstract Light traps operated from May 2022 to August 2023 collected Oryctes beetles (Coleoptera: Scarabaeidae) in date palm (Phoenix dactylifera L.) plantations El Oued, Algeria. Morphological examination of 105 adult specimens the revealed them be agamemnon arabicus (Fairmaire). Molecular identification, using cytochrome oxidase c subunit I (COI) marker, confirmed those identifications. Notably, MASH analysis differing degrees genetic similarity, suggesting nuanced diversity within...
ATRX is a recessive X-linked intellectual deficiency (X-LID) gene causing predominately alpha-thalassaemia with wide and clinically heterogeneous spectrum of syndromes. Although commonly present, some patients do not express this sign despite the being altered. Most pathological mutations have been localized in two different major domains, helicase plant homeo-domain (PHD)-like domain. In study we examined family three males having an mental developmental delay, tried to establish genetic...
X-linked Intellectual Disability (XLID) is an extremely heterogeneous disorder for which many of the causative genes are still unknown.So far, more than one hundred X chromosome have been found to be altered in males manifesting intellectual disability (ID).NLGN4X XLID gene, has found, involved autism and Asperger syndrome involving coding mutations.Up now a few pathological mutations promoter 5' UTR identified.Here we report non-syndromic linked two brothers with novel NLGN4X splicing...
X-Linked Intellectual Disability (XLID) is an extremely heterogeneous disorder for which many of the causative genes are still unknown. So far, more than one hundred X chromosome have been found to alter in males manifesting intellectual disability. OGT (O-linked N-acetyl-Glucosamine-Transferase) gene well known be involved endocrine alterations by resistance insulin muscles and adipocytes therefore initiation diabetes. It reported also cancer, brain development, neurodegenerative diseases....
Immunohistochemical (IHC) testing for HER2/neu is becoming the standard of care guiding adjuvant treatment gastric carcinoma with trastuzumab. Up to now, cancer has been considered most commonly diagnosed tumors leading death. In this study, we evaluate detection HER2 expression by IHC in Tunisian patients according international consensus. A total 84 tumor specimens was assessed immunohistochemistry using antibodies HercepTest™. Doubtful results (IHC 2+) were resolved Chromogenic situ...