A5063739374- Growth Hormone and Insulin-like Growth Factors
- Health, Medicine and Society
- Genomic variations and chromosomal abnormalities
- Cystic Fibrosis Research Advances
- Genomics and Rare Diseases
- Ocular Surface and Contact Lens
- Neuroendocrine regulation and behavior
- Occupational Health and Safety Research
- Metabolism, Diabetes, and Cancer
- Maternal Mental Health During Pregnancy and Postpartum
- Pancreatic function and diabetes
- Glaucoma and retinal disorders
- Retinal Diseases and Treatments
- Stress Responses and Cortisol
Hôpital Armand-Trousseau
2019
Maladies génétiques d’expression pédiatrique
2019
Sorbonne Université
2019
Inserm
2019
Mouloud Mammeri University of Tizi-Ouzou
2018
University of Antwerp
2004
Vlaams Instituut voor Biotechnologie
2004
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%...
Isolated growth hormone deficiency (IGHD) is a rare condition mainly caused by mutations in GH1. The aim of this study was to assess the contribution GHRHR IGHD an unusually large group patients. All coding exons and flanking intronic regions were sequenced 312 unrelated patients with nonsyndromic IGHD. Functional consequences all newly identified missense variants assessed vitro (i.e., expression recombinant GHRHRs their ability activate cyclic adenosine monophosphate (cAMP) signaling...