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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 3
2004 2
2007 1
2008 1
2009 1
2011 1
2012 1
2014 1
2015 3
2016 4
2017 6
2018 1
2019 5
2020 5
2021 6
2022 10
2023 3
2024 1

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51 results

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Page 1
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.
Murro V, Banfi S, Testa F, Iarossi G, Falsini B, Sodi A, Signorini S, Iolascon A, Russo R, Mucciolo DP, Caputo R, Bacci GM, Bargiacchi S, Turco S, Fortini S, Simonelli F. Murro V, et al. Among authors: iarossi g. Orphanet J Rare Dis. 2023 Jul 31;18(1):223. doi: 10.1186/s13023-023-02798-z. Orphanet J Rare Dis. 2023. PMID: 37525225 Free PMC article. Review.
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Sinibaldi L, Garone G, Mandarino A, Iarossi G, Chioma L, Dentici ML, Merla G, Agolini E, Micalizzi A, Mancini C, Niceta M, Macchiaiolo M, Diodato D, Onesimo R, Blandino R, Delogu AB, De Rosa G, Trevisan V, Iademarco M, Zampino G, Tartaglia M, Novelli A, Bartuli A, Digilio MC, Calcagni G. Sinibaldi L, et al. Among authors: iarossi g. Clin Genet. 2023 Nov;104(5):528-541. doi: 10.1111/cge.14404. Epub 2023 Jul 17. Clin Genet. 2023. PMID: 37455656
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Falsini B, Placidi G, De Siena E, Chiurazzi P, Minnella AM, Savastano MC, Ziccardi L, Parisi V, Iarossi G, Percio M, Piteková B, Marceddu G, Maltese PE, Bertelli M. Falsini B, et al. Among authors: iarossi g. Sci Rep. 2022 Mar 8;12(1):3774. doi: 10.1038/s41598-022-07618-1. Sci Rep. 2022. PMID: 35260635 Free PMC article.
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.
Testa F, Murro V, Signorini S, Colombo L, Iarossi G, Parmeggiani F, Falsini B, Salvetti AP, Brunetti-Pierri R, Aprile G, Bertone C, Suppiej A, Romano F, Karali M, Donati S, Melillo P, Sodi A, Quaranta L, Rossetti L, Buzzonetti L, Chizzolini M, Rizzo S, Staurenghi G, Banfi S, Azzolini C, Simonelli F. Testa F, et al. Among authors: iarossi g. Invest Ophthalmol Vis Sci. 2022 Feb 1;63(2):13. doi: 10.1167/iovs.63.2.13. Invest Ophthalmol Vis Sci. 2022. PMID: 35129589 Free PMC article.
Early neurodevelopmental characterization in children with cobalamin C/defect.
Ricci D, Martinelli D, Ferrantini G, Lucibello S, Gambardella M, Olivieri G, Chieffo D, Battaglia D, Diodato D, Iarossi G, Donati AM, Dionisi-Vici C, Battini R, Mercuri EM. Ricci D, et al. Among authors: iarossi g. J Inherit Metab Dis. 2020 Mar;43(2):367-374. doi: 10.1002/jimd.12171. Epub 2020 Jan 16. J Inherit Metab Dis. 2020. PMID: 31503356
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Maltese PE, Colombo L, Martella S, Rossetti L, El Shamieh S, Sinibaldi L, Passarelli C, Coppè AM, Buzzonetti L, Falsini B, Chiurazzi P, Placidi G, Tanzi B, Bertelli M, Iarossi G. Maltese PE, et al. Among authors: iarossi g. Front Genet. 2022 Jun 28;13:914345. doi: 10.3389/fgene.2022.914345. eCollection 2022. Front Genet. 2022. PMID: 35836572 Free PMC article.
Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice.
Testa F, Bacci G, Falsini B, Iarossi G, Melillo P, Mucciolo DP, Murro V, Salvetti AP, Sodi A, Staurenghi G, Simonelli F. Testa F, et al. Among authors: iarossi g. Eye (Lond). 2024 Apr 16. doi: 10.1038/s41433-024-03065-6. Online ahead of print. Eye (Lond). 2024. PMID: 38627549 Review.
An ontological foundation for ocular phenotypes and rare eye diseases.
Sergouniotis PI, Maxime E, Leroux D, Olry A, Thompson R, Rath A, Robinson PN, Dollfus H; ERN-EYE Ontology Study Group. Sergouniotis PI, et al. Orphanet J Rare Dis. 2019 Jan 9;14(1):8. doi: 10.1186/s13023-018-0980-6. Orphanet J Rare Dis. 2019. PMID: 30626441 Free PMC article.
51 results