A5023559409- Cystic Fibrosis Research Advances
- Genetic and Kidney Cyst Diseases
- Acute Lymphoblastic Leukemia research
- Neonatal Respiratory Health Research
- Chronic Lymphocytic Leukemia Research
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Cancer-related Molecular Pathways
- Genomic variations and chromosomal abnormalities
- Sarcoma Diagnosis and Treatment
- Genetics and Neurodevelopmental Disorders
- Genetic Syndromes and Imprinting
- Hemoglobinopathies and Related Disorders
- Acute Myeloid Leukemia Research
- Immunodeficiency and Autoimmune Disorders
- Phagocytosis and Immune Regulation
- Lymphoma Diagnosis and Treatment
- Cell death mechanisms and regulation
- Tracheal and airway disorders
- Epigenetics and DNA Methylation
University of Sousse
2016-2023
Sorbonne Université
2017-2023
Hôpital Armand-Trousseau
2017-2022
Inserm
2019-2022
Maladies génétiques d’expression pédiatrique
2019-2022
Assistance Publique – Hôpitaux de Paris
2017
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease of motile cilia. Even though PCD widely studied, North-African patients have been rarely explored. In this study, we aim at confirming the clinical diagnosis and explore genetic spectrum in cohort Tunisian patients. Forty clinically diagnosed with belonging to 34 families were recruited from pediatric departments. each proband, targeted capture panel sequencing 40 genes was performed. identified bi-allelic mutations 82%...
Rationale: Although children with primary ciliary dyskinesia (PCD) typically have low nasal nitric oxide (nNO), some indisputable PCD may unexplained high nNO concentrations. Objectives: To look for relationships between measures and genetic findings (and cilia motility or ultrastructure when available) in known genotypes. Methods: We retrospectively studied 73 (median age, 9.5 [range, 2.1-18.2] yr). was the mean value of a plateau reached while velum closed (nNO-VC; threshold, 77 nl ⋅...
PCD can be diagnosed by bi-allelic pathogenic mutations in one of >50 ciliary genes. ~ 60% patients with an identified genetic cause have private not previously reported another patient. Increasing numbers variants unknown significance (VUS, i.e. if they are pathogenic) identified. As clinical testing is increasingly used for PCD, there a need to develop public access resource identify been associated disease. Our aim was establish online open database registering gene and specific...
Genetic diagnosis of motile ciliopathies is conducted by healthcare, commercial and private laboratories. 88 genes have been implicated in (PCD, male infertility associated disorders). Gene-disease relationships are uncertain where evidence limited, risking inaccurate reporting diagnosis. The ClinGen Motile Ciliopathy Gene Curation Expert Panel (GCEP) was set up collaboratively with BEAT-PCD ERS CRC 2021. GCEP comprises geneticists, pulmonologists biocurators (Canada, France, Germany,...
Primary ciliary dyskinesia (PCD) is a rare autosomal-recessive disorder characterized by abnormal motile function. Because cilia and sperm flagella share common axonemal structures, male individuals are supposed to be infertile female may have hypofertility. We hypothesize that correlation exist between the risk of hypofertility genotype in PCD. retrospectively recorded fertility status adult patients with definite PCD diagnosis, based on ultrastructural phenotype an established...
Background: Molecular approaches applied to the study of B-lineage leukemia have made significant contributions in understanding and characterizing disease.The Kde rearrangement was targeted as clonal marker characterize Tunisian B-chronic lymphocytic (B-CLL) B-acute lymphoblastic (B-ALL).Objective: We used a multiplex PCR amplify deletional rearrangements Southern blot assay with Cκ probes seven B-CLL two B-ALL.Direct sequencing performed order determine n region.Results: An interesting...