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The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.
Chrystal PW, Lambacher NJ, Doucette LP, Bellingham J, Schiff ER, Noel NCL, Li C, Tsiropoulou S, Casey GA, Zhai Y, Nadolski NJ, Majumder MH, Tagoe J, D'Esposito F, Cordeiro MF, Downes S, Clayton-Smith J, Ellingford J; Genomics England Research Consortium; Mahroo OA, Hocking JC, Cheetham ME, Webster AR, Jansen G, Blacque OE, Allison WT, Au PYB, MacDonald IM, Arno G, Leroux MR. Chrystal PW, et al. Among authors: d esposito f. Nat Commun. 2022 Nov 3;13(1):6595. doi: 10.1038/s41467-022-33820-w. Nat Commun. 2022. PMID: 36329026 Free PMC article.
Efficacy and Safety of Artificial Tears Containing Lipidure and Hypromellose for the Treatment of Moderate Dry Eye Disease in Contact Lens Wearers.
Gagliano C, Zeppieri M, Longo A, Rubegni G, Amato R, Foti R, Cappellani F, Cocuzza M, Visalli F, Cannizzaro L, Avitabile A, Gagliano G, Lapenna L, D'Esposito F. Gagliano C, et al. Among authors: d esposito f. Medicina (Kaunas). 2024 Feb 8;60(2):287. doi: 10.3390/medicina60020287. Medicina (Kaunas). 2024. PMID: 38399574 Free PMC article. Clinical Trial.
Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.
Frecer V, Iarossi G, Salvetti AP, Maltese PE, Delledonne G, Oldani M, Staurenghi G, Falsini B, Minnella AM, Ziccardi L, Magli A, Colombo L, D'Esposito F, Miertus J, Viola F, Attanasio M, Maggio E, Bertelli M. Frecer V, et al. J Transl Med. 2019 Oct 1;17(1):330. doi: 10.1186/s12967-019-2080-3. J Transl Med. 2019. PMID: 31570112 Free PMC article.
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Manara E, Paolacci S, D'Esposito F, Abeshi A, Ziccardi L, Falsini B, Colombo L, Iarossi G, Pilotta A, Boccone L, Guerri G, Monica M, Marta B, Maltese PE, Buzzonetti L, Rossetti L, Bertelli M. Manara E, et al. Ital J Pediatr. 2019 Jun 13;45(1):72. doi: 10.1186/s13052-019-0659-1. Ital J Pediatr. 2019. PMID: 31196119 Free PMC article.
Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants.
Bonetti G, Cozza W, Bernini A, Kaftalli J, Mareso C, Cristofoli F, Medori MC, Colombo L, Martella S, Staurenghi G, Salvetti AP, Falsini B, Placidi G, Attanasio M, Pertile G, Bengala M, Bosello F, Petracca A, D'Esposito F, Toschi B, Lanzetta P, Ricci F, Viola F, Marceddu G, Bertelli M. Bonetti G, et al. Among authors: d esposito f. Int J Mol Sci. 2023 Nov 28;24(23):16881. doi: 10.3390/ijms242316881. Int J Mol Sci. 2023. PMID: 38069202 Free PMC article.
Autoantibodies detection in patients affected by autoimmune retinopathies.
Ceccarini MR, Medori MC, Dhuli K, Tezzele S, Bonetti G, Micheletti C, Maltese PE, Cecchin S, Donato K, Colombo L, Rossetti L, Staurenghi G, Salvetti AP, Oldani M, Ziccardi L, Marangoni D, Iarossi G, Falsini B, Placidi G, D'Esposito F, Viola F, Nassisi M, Leone G, Cimino L, De Simone L, Mastrofilippo V, Beccari T, Bertelli M. Ceccarini MR, et al. Among authors: d esposito f. Eur Rev Med Pharmacol Sci. 2023 Dec;27(6 Suppl):57-63. doi: 10.26355/eurrev_202312_34690. Eur Rev Med Pharmacol Sci. 2023. PMID: 38112948 Free article.
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.
Jurkute N, D'Esposito F, Robson AG, Pitceathly RDS, Cordeiro F, Raymond FL, Moore AT, Michaelides M, Yu-Wai-Man P, Webster AR, Arno G; Genomics England Research Consortium. Jurkute N, et al. Among authors: d esposito f. Invest Ophthalmol Vis Sci. 2021 Dec 1;62(15):12. doi: 10.1167/iovs.62.15.12. Invest Ophthalmol Vis Sci. 2021. PMID: 34905022 Free PMC article.
47 results