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Efficacy and safety of avacincaptad pegol in patients with geographic atrophy (GATHER2): 12-month results from a randomised, double-masked, phase 3 trial.
Khanani AM, Patel SS, Staurenghi G, Tadayoni R, Danzig CJ, Eichenbaum DA, Hsu J, Wykoff CC, Heier JS, Lally DR, Monés J, Nielsen JS, Sheth VS, Kaiser PK, Clark J, Zhu L, Patel H, Tang J, Desai D, Jaffe GJ; GATHER2 trial investigators. Khanani AM, et al. Lancet. 2023 Oct 21;402(10411):1449-1458. doi: 10.1016/S0140-6736(23)01583-0. Epub 2023 Sep 8. Lancet. 2023. PMID: 37696275
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.
Karali M, García-García G, Kaminska K, AlTalbishi A, Cancellieri F, Testa F, Barillari MR, Panagiotou ES, Psillas G, Vaclavik V, Tran VH, Janeschitz-Kriegl L, Scholl HP, Salameh M, Barberán-Martínez P, Rodríguez-Muñoz A, Armengot M, Scarpato M, Zeuli R, Quinodoz M, Simonelli F, Rivolta C, Banfi S, Millán JM. Karali M, et al. Among authors: simonelli f. Eur J Hum Genet. 2024 Dec 13. doi: 10.1038/s41431-024-01768-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39672920
Utilising Narrative Medicine to Identify Key Factors Affecting Quality of Life in Dry Eye Disease: An Italian Multicentre Study.
Aragona P, Barabino S, Akbas E, Ryan R, Landini L, Marini MG, Fiorencis A, Cappuccio A, Leonardi A, Vercesi A, Frisina R, Bandello F, Berchicci L, Aragona E, Semeraro F, Romano V, Di Carlo I, Reibaldi M, Ghilardi A, De Cillà S, Marchini G, Tognetto D, Fontana L, Versura P, D'Eliseo D, Mularoni A, Cagini C, Mencucci R, Coassin M, Di Zazzo A, Rizzo S, Fasciani R, Gualdi L, Cusumano A, Spadea L, Cantera E, Scorcia V, Giannaccare G, Rosa P, Troisi S, Provenzano A, Simonelli F, Marullo M, Ciracì L, Costagliola C, Primavera V, Gagliano C, Pinna A, Giovanni A, Boscia F, Gelso A, Mastropasqua L, Bonfiglio E, Rolando M, Bonini S. Aragona P, et al. Among authors: simonelli f. Ophthalmol Ther. 2024 Nov;13(11):2965-2984. doi: 10.1007/s40123-024-01033-7. Epub 2024 Sep 28. Ophthalmol Ther. 2024. PMID: 39340633 Free PMC article.
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, Valverde D. Dollfus H, et al. Among authors: simonelli f. Eur J Hum Genet. 2024 Nov;32(11):1347-1360. doi: 10.1038/s41431-024-01634-7. Epub 2024 Jul 31. Eur J Hum Genet. 2024. PMID: 39085583 Free PMC article. Review.
Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy.
Testa F, Carreño E, van den Born LI, Melillo P, Perea-Romero I, Di Iorio V, Risca G, Iodice CM, Pennings RJE, Karali M, Banfi S, Auricchio A, Galimberti S, Ayuso C, Simonelli F. Testa F, et al. Among authors: simonelli f. Invest Ophthalmol Vis Sci. 2024 Jun 3;65(6):25. doi: 10.1167/iovs.65.6.25. Invest Ophthalmol Vis Sci. 2024. PMID: 38884554 Free PMC article.
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients.
Zeuli R, Karali M, de Bruijn SE, Rodenburg K, Scarpato M, Capasso D, Astuti GDN, Gilissen C, Rodríguez-Hidalgo M, Ruiz-Ederra J, Testa F, Simonelli F, Cremers FPM, Banfi S, Roosing S. Zeuli R, et al. Among authors: simonelli f. HGG Adv. 2024 Jul 18;5(3):100314. doi: 10.1016/j.xhgg.2024.100314. Epub 2024 May 29. HGG Adv. 2024. PMID: 38816995 Free PMC article.
260 results