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Pr Isabelle MEUNIER
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Reference Center Rare Diseases ‘Genetic Sensory Diseases’, MAOLYA, Montpellier, France
Kliinilised uuringud
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
Teaduslikud väljaanded
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
Achromatopsia (ACHM) on pärilik koonusekujuline fotoretseptori häire, mida iseloomustab võimetus eristada värve, nüstagm, valgusfoobia, ...
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
Põhjalik uuring, milles rakendati geeni kodeerivate piirkondade otsest Sangeri sekveneerimist, eksoomi ja genoomi järjestamist, mida rakendati suurele rühmale...
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
Kasulike eelduste abil rekonstrueerisime enne mutatsioonisündmust OPN1LW / OPN1MW geeniklastri koostise ja koopiate arvu ...
Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort
Meie uuring toetab varasemaid teateid autosomaalse retsessiivse RP-haistmishäire sündroomi kohta seoses teatud haigusi põhjustavate...