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Modeling PRPF31 retinitis pigmentosa using retinal pigment epithelium and organoids combined with gene augmentation rescue.
Rodrigues A, Slembrouck-Brec A, Nanteau C, Terray A, Tymoshenko Y, Zagar Y, Reichman S, Xi Z, Sahel JA, Fouquet S, Orieux G, Nandrot EF, Byrne LC, Audo I, Roger JE, Goureau O. Rodrigues A, et al. Among authors: nandrot ef. NPJ Regen Med. 2022 Aug 16;7(1):39. doi: 10.1038/s41536-022-00235-6. NPJ Regen Med. 2022. PMID: 35974011 Free PMC article.
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy.
Gabrielle PH, Faivre L, Audo I, Zanlonghi X, Dollfus H, Thiadens AAHJ, Zeitz C, Mancini GMS, Perdomo Y, Mohand-Saïd S, Lizé E, Lhussiez V, Nandrot EF, Acar N, Creuzot-Garcher C, Sahel JA, Ansar M, Thauvin-Robinet C, Duplomb L, Da Costa R. Gabrielle PH, et al. Among authors: nandrot ef. Sci Rep. 2021 Aug 12;11(1):16412. doi: 10.1038/s41598-021-95743-8. Sci Rep. 2021. PMID: 34385517 Free PMC article.
Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.
Lhussiez V, Dubus E, Cesar Q, Acar N, Nandrot EF, Simonutti M, Audo I, Lizé E, Nguyen S, Geissler A, Bouchot A, Ansar M, Picaud S, Thauvin-Robinet C, Olivier-Faivre L, Duplomb L, Da Costa R. Lhussiez V, et al. Among authors: nandrot ef. Invest Ophthalmol Vis Sci. 2020 Sep 1;61(11):18. doi: 10.1167/iovs.61.11.18. Invest Ophthalmol Vis Sci. 2020. PMID: 32915983 Free PMC article.
44 results