A5014113462- Congenital heart defects research
- Fetal and Pediatric Neurological Disorders
- Genomic variations and chromosomal abnormalities
- Chromatin Remodeling and Cancer
- Neuroscience of respiration and sleep
- Cardiovascular Issues in Pregnancy
- Genomics and Rare Diseases
- Cystic Fibrosis Research Advances
- Prenatal Screening and Diagnostics
- Cardiac Arrhythmias and Treatments
- Eosinophilic Esophagitis
- Congenital Diaphragmatic Hernia Studies
- Eosinophilic Disorders and Syndromes
- Congenital Heart Disease Studies
- Tuberous Sclerosis Complex Research
- Gastrointestinal disorders and treatments
- Spectroscopy and Chemometric Analyses
Sorbonne Université
2019-2024
Hôpital Armand-Trousseau
2019-2024
Inserm
2019-2024
Université Paris Cité
2020-2024
Hôpital Necker-Enfants Malades
2024
Institut des Maladies Génétiques Imagine
2024
Assistance Publique – Hôpitaux de Paris
2020-2023
NeuroDiderot
2020
Maladies génétiques d’expression pédiatrique
2019
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%...
Smith-Magenis syndrome (SMS), characterized by dysmorphic features, neurodevelopmental disorder, and sleep disturbance, is due to an interstitial deletion of chromosome 17p11.2 (90%) or point mutations in the RAI1 gene. In this retrospective cohort, we studied clinical, cognitive, behavioral profile 47 European patients with SMS caused a deletion. We update clinical neurobehavioral SMS. Intrauterine growth was normal most patients. Prenatal anomalies were reported 15%. 60% our older than 10...