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243 results

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XOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants with Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa.
MacLaren RE, Duncan JL, Fischer MD, Lam BL, Meunier I, Pennesi ME, Sankila EK, Gow JA, Li J, Tsang SF; XOLARIS Study Group. MacLaren RE, et al. Ophthalmol Sci. 2024 Aug 13;5(1):100595. doi: 10.1016/j.xops.2024.100595. eCollection 2025 Jan-Feb. Ophthalmol Sci. 2024. PMID: 39493534 Free PMC article.
Nonsyndromic Retinitis Pigmentosa Overview.
Fahim AT, Daiger SP, Weleber RG. Fahim AT, et al. Among authors: weleber rg. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301590 Free Books & Documents. Review.
Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview.
Kumaran N, Pennesi ME, Yang P, Trzupek KM, Schlechter C, Moore AT, Weleber RG, Michaelides M. Kumaran N, et al. Among authors: weleber rg. 2018 Oct 4 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2018 Oct 4 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 30285347 Free Books & Documents. Review.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Belga Ottoni Porto F, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Sener EC, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B, Kohl S. Solaki M, et al. Among authors: weleber rg. Hum Mutat. 2022 Jul;43(7):832-858. doi: 10.1002/humu.24371. Epub 2022 Apr 14. Hum Mutat. 2022. PMID: 35332618 Review.
Three-Year Safety Results of SAR422459 (EIAV-ABCA4) Gene Therapy in Patients With ABCA4-Associated Stargardt Disease: An Open-Label Dose-Escalation Phase I/IIa Clinical Trial, Cohorts 1-5.
Parker MA, Erker LR, Audo I, Choi D, Mohand-Said S, Sestakauskas K, Benoit P, Appelqvist T, Krahmer M, Ségaut-Prévost C, Lujan BJ, Faridi A, Chegarnov EN, Steinkamp PN, Ku C, da Palma MM, Barale PO, Ayelo-Scheer S, Lauer A, Stout T, Wilson DJ, Weleber RG, Pennesi ME, Sahel JA, Yang P. Parker MA, et al. Among authors: weleber rg. Am J Ophthalmol. 2022 Aug;240:285-301. doi: 10.1016/j.ajo.2022.02.013. Epub 2022 Mar 4. Am J Ophthalmol. 2022. PMID: 35248547 Free PMC article. Clinical Trial.
Extracellular matrix dysfunction in Sorsby patient-derived retinal pigment epithelium.
Engel AL, Wang Y, Khuu TH, Worrall E, Manson MA, Lim RR, Knight K, Yanagida A, Qi JH, Ramakrishnan A, Weleber RG, Klein ML, Wilson DJ, Anand-Apte B, Hurley JB, Du J, Chao JR. Engel AL, et al. Among authors: weleber rg. Exp Eye Res. 2022 Feb;215:108899. doi: 10.1016/j.exer.2021.108899. Epub 2021 Dec 17. Exp Eye Res. 2022. PMID: 34929159 Free PMC article.
Functional evaluation in inherited retinal disease.
Daich Varela M, Georgiou M, Hashem SA, Weleber RG, Michaelides M. Daich Varela M, et al. Among authors: weleber rg. Br J Ophthalmol. 2022 Nov;106(11):1479-1487. doi: 10.1136/bjophthalmol-2021-319994. Epub 2021 Nov 25. Br J Ophthalmol. 2022. PMID: 34824084 Review.
243 results