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Page 1
Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.
Lavorgna G, Lestingi M, Ziviello C, Testa F, Simonelli F, Manitto MP, Brancato R, Ferrari M, Rinaldi E, Ciccodicola A, Banfi S. Lavorgna G, et al. Among authors: simonelli f. Biochem Biophys Res Commun. 2003 Aug 29;308(3):414-21. doi: 10.1016/s0006-291x(03)01410-4. Biochem Biophys Res Commun. 2003. PMID: 12914764
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S. Panneman DM, et al. Among authors: simonelli f. Front Cell Dev Biol. 2023 Feb 3;11:1112270. doi: 10.3389/fcell.2023.1112270. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36819107 Free PMC article.
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB 4th, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, Manes G… See abstract for full author list ➔ Quinodoz M, et al. Among authors: simonelli f. medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. medRxiv. 2025. PMID: 39830270 Free PMC article. Preprint.
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.
262 results