A5009643773- Cardiac Imaging and Diagnostics
- Cardiac Arrhythmias and Treatments
- Appendicitis Diagnosis and Management
- Cystic Fibrosis Research Advances
- Intraperitoneal and Appendiceal Malignancies
- Gastrointestinal disorders and treatments
- Coronary Artery Anomalies
- Genetic and Kidney Cyst Diseases
- Intestinal and Peritoneal Adhesions
- Atrial Fibrillation Management and Outcomes
- Coronary Interventions and Diagnostics
- Pancreatic and Hepatic Oncology Research
- Advanced MRI Techniques and Applications
- Cardiovascular Function and Risk Factors
- Cardiac tumors and thrombi
- Advanced X-ray and CT Imaging
- Cardiac pacing and defibrillation studies
- Neonatal Respiratory Health Research
- Cardiac Valve Diseases and Treatments
- Gastrointestinal Tumor Research and Treatment
- Biliary and Gastrointestinal Fistulas
- Radiomics and Machine Learning in Medical Imaging
- Protist diversity and phylogeny
- Hernia repair and management
- Diverticular Disease and Complications
Assistance Publique – Hôpitaux de Paris
2014-2024
Hôpital Armand-Trousseau
2014-2024
Sorbonne Université
2014-2024
Clinique Pasteur
2023
Maladies génétiques d’expression pédiatrique
2014-2019
Inserm
2016-2019
Centre Hospitalier Régional et Universitaire de Nancy
2001-2011
Délégation Centre-Est
2004-2006
Centre Hospitalier Universitaire de Lille
2006
Idiopathic interstitial pneumonias (IIPs) comprise a heterogeneous group of rare lung parenchyma disorders with high morbidity and mortality, which can occur at all ages. In adults, the most common form IIPs, idiopathic pulmonary fibrosis (IPF), has been associated an increased frequency cancer. The molecular basis IIPs remains unknown in cases. This study investigates IIP pathophysiology 12 families affected by IPF We identified, multigenerational family, nine members carrying heterozygous...
Primary ciliary dyskinesia (PCD) is an autosomal recessive disease characterized by chronic respiratory infections of the upper and lower airways, hypofertility, and, in approximately half cases, situs inversus. This complex phenotype results from defects motile cilia sperm flagella. Among numerous genes involved PCD, very few—including CCDC39 CCDC40—carry mutations that lead to a disorganization axonemes with microtubule misalignment. Focusing on this particular phenotype, we identified...
Primary ciliary dyskinesia (PCD) is a rare airway disorder caused by defective motile cilia. Only male patients have been reported with pathogenic mutations in X-linked
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%...