Présentation
Contact
L'équipe "Génétique Ophtalmologique" est composée de 3 groupes :
- Dystrophies rétiniennes sévères et précoces : décryptage génétique et thérapie
- Neuropathies optiques monosymptomatiques et syndromiques
- Développement oculaire
Ressources & publications
-
Journal (source)Journal of medical genetics 2019Cardiac valve involvement in ADAR-related type I interferonopathy.
-
2019Journal (source)Rheumatology (Oxford)
Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defi...
-
2020Journal (source)The lancet neurology
Neuromyelitis optica in patients with increased interferon alpha concentrations.
-
Journal (source)The New England journal of medicine 2019
Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome
-
2018Journal (source)Nature communications
Type I interferon-mediated autoinflammation due to DNase II deficiency.
-
Journal (source)The journal of experimental medicine 2017
Detection of interferon alpha protein reveals differential levels and cellula...
-
Journal (source)The lancet rheumatology 2020
Contribution of rare and predicted pathogenic gene variants to childhood-onse...
-
Journal (source)The journal of experimental medicine 2020
Mutations in COPA lead to abnormal trafficking of STING to the Golgi and inte...
-
Journal (source)Journal of Allergy Clinical Immunology: In practice 2020
Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among ...
-
2020Journal (source)Nature genetics
cGAS-mediated induction of type I interferon due to inborn errors of histone ...
-
Journal (source)Journal of allergy and clinical immunology 2020
JAK inhibition in the type I interferonopathies.
-
Journal (source)The journal of experimental medicine 2021
Enhanced cGAS-STING-dependent interferon signaling associated with mutations ...
-
2021Journal (source)Frontiers in immunology
Mitochondrial Nucleic Acid as a Driver of Pathogenic Type I Interferon Induct...
-
2021Journal (source)Rheumatology (Oxford)
Rheumatoid factor positive polyarticular juvenile idiopathic arthritis associ...
-
Journal (source)Annual review of immunology 2019
Self-Awareness: Nucleic Acid-Driven Inflammation and the Type I Interferonopa...
-
2020Journal (source)J Exp Med
Mutations in COPA lead to abnormal trafficking of STING to the Golgi and inte...
-
2020Journal (source)Nat Genet
cGAS-mediated induction of type I interferon due to inborn errors of histone ...