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Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
Heath Jeffery RC, Thompson JA, Lo J, Chelva ES, Armstrong S, Pulido JS, Procopio R, Vincent AL, Bianco L, Battaglia Parodi M, Ziccardi L, Antonelli G, Barbano L, Marques JP, Geada S, Carvalho AL, Tang WC, Chan CM, Boon CJF, Hensman J, Chen TC, Lin CY, Chen PL, Vincent A, Tumber A, Heon E, Grigg JR, Jamieson RV, Cornish EE, Nash BM, Borooah S, Ayton LN, Britten-Jones AC, Edwards TL, Ruddle JB, Sharma A, Porter RG, Lamey TM, McLaren TL, McLenachan S, Roshandel D, Chen FK. Heath Jeffery RC, et al. Among authors: marques jp. Invest Ophthalmol Vis Sci. 2024 May 1;65(5):22. doi: 10.1167/iovs.65.5.22. Invest Ophthalmol Vis Sci. 2024. PMID: 38743414 Free PMC article.
Non-exudative macular neovascularization in pseudoxanthoma elasticum.
Marques JP, Bernardes J, Geada S, Soares M, Teixeira D, Farinha C, Pires I, Cachulo ML, Silva R. Marques JP, et al. Graefes Arch Clin Exp Ophthalmol. 2021 Apr;259(4):873-882. doi: 10.1007/s00417-020-04979-z. Epub 2020 Oct 19. Graefes Arch Clin Exp Ophthalmol. 2021. PMID: 33074374
EYS-Associated Sector Retinitis Pigmentosa.
Marques JP, Porto FBO, Carvalho AL, Neves E, Chen R, Sampaio SAM, Murta J, Saraiva J, Silva R. Marques JP, et al. Graefes Arch Clin Exp Ophthalmol. 2022 Apr;260(4):1405-1413. doi: 10.1007/s00417-021-05411-w. Epub 2021 Sep 27. Graefes Arch Clin Exp Ophthalmol. 2022. PMID: 34568954
252 results