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Pr Isabelle MEUNIER
Frankreich
HCP-Zentrum
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Reference Center Rare Diseases ‘Genetic Sensory Diseases’, MAOLYA, Montpellier, France
Klinische Studien
A Multicenter Prospective Observational « Natural History » Study in Patients With Choroideremia.
Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci/Genes.
Gene therapy study on choroideremia : to assess the safety and tolerability of the AAV.REP1 vector, administered at two different doses to the retina in patients with a diagnosis of choroideremia.
Safety and Efficacy of a Unilateral Subretinal Administration of HORA-PDE6B in Patients With Retinitis Pigmentosa Harbouring Mutations in the PDE6B Gene Leading to a Defect in PDE6ß Expression
Natural history of the progression of X-linked retinitis pigmentosa.
A pivotal, international, randomised, double-blind, efficacy and safety trial of sodium valporate in paediatric and adult patients with Wolfram Syndrome
Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RetinitisPigmentosa Due to Mutations in Exon 13 of the USH2A Gene (Stellar)
Natural History of the Progression of Choroideremia Study NSR-CHM-OS1.
A Long-term Follow-up Study to Evaluate the Safety and efficacy of Retinal Gene Therapy in Subjects with choroideremia treated previously with Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) in an Antecedent Study.
Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy.
A Prospective Observational Study of Patients Receiving Dupixent® for Atopic Dermatitis
Wissenschaftliche Veröffentlichungen
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
Achromatopsie (ACHM) ist eine erbliche Störung der Zapfen-Photorezeptoren, die durch die Unfähigkeit, Farben zu unterscheiden, Nystagmus, Photophobie usw. gekennzeichnet ist.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders
Eine umfassende Studie, in der die direkte Sanger-Sequenzierung der genkodierenden Regionen sowie die Exom- und Genomsequenzierung auf eine große Kohorte von ... angewendet wurden.
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
Unter Verwendung sparsamer Annahmen haben wir die Zusammensetzung und Kopienzahl des OPN1LW/OPN1MW-Genclusters vor dem Mutationsereignis rekonstruiert ...
Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort
Unsere Studie stützt frühere Berichte über ein autosomal rezessives RP-olfaktorisches Dysfunktionssyndrom in Verbindung mit bestimmten krankheitsverursachenden...