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Page 1
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
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
Nasca A, Rizza T, Doimo M, Legati A, Ciolfi A, Diodato D, Calderan C, Carrara G, Lamantea E, Aiello C, Di Nottia M, Niceta M, Lamperti C, Ardissone A, Bianchi-Marzoli S, Iarossi G, Bertini E, Moroni I, Tartaglia M, Salviati L, Carrozzo R, Ghezzi D. Nasca A, et al. Among authors: iarossi g. Orphanet J Rare Dis. 2017 May 12;12(1):89. doi: 10.1186/s13023-017-0641-1. Orphanet J Rare Dis. 2017. PMID: 28494813 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.
Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier.
Maltese P, Ziccardi L, Iarossi G, Gusson E, D'Agruma L, Marchini G, Buzzonetti L, Nicoletti A, Benedetti S, Bertelli M. Maltese P, et al. Among authors: iarossi g. Ophthalmic Genet. 2017 Sep-Oct;38(5):473-479. doi: 10.1080/13816810.2016.1253107. Epub 2017 Feb 1. Ophthalmic Genet. 2017. PMID: 28145787
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.
60 results