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Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis.
Nicoletti A, Ziccardi L, Maltese PE, Benedetti S, Palumbo O, Rendina M, D'Agruma L, Falsini B, Wang X, Bertelli M. Nicoletti A, et al. Among authors: benedetti s. Genet Test Mol Biomarkers. 2017 Feb;21(2):116-121. doi: 10.1089/gtmb.2016.0257. Epub 2016 Dec 20. Genet Test Mol Biomarkers. 2017. PMID: 27997221 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: benedetti s. Ophthalmic Genet. 2017 Sep-Oct;38(5):473-479. doi: 10.1080/13816810.2016.1253107. Epub 2017 Feb 1. Ophthalmic Genet. 2017. PMID: 28145787
Hypothyroidism and hyperthyroidism.
Guerri G, Bressan S, Sartori M, Costantini A, Benedetti S, Agostini F, Tezzele S, Cecchin S, Scaramuzza A, Bertelli M. Guerri G, et al. Among authors: benedetti s. Acta Biomed. 2019 Sep 30;90(10-S):83-86. doi: 10.23750/abm.v90i10-S.8765. Acta Biomed. 2019. PMID: 31577260 Free PMC article. Review.
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L. Colombo L, et al. Among authors: benedetti s. Invest Ophthalmol Vis Sci. 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. Invest Ophthalmol Vis Sci. 2021. PMID: 33576794 Free PMC article.
Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters.
Gatticchi L, Vešelényiová D, Miertus J, Enrico Maltese P, Manara E, Costantini A, Benedetti S, Ďurovčíková D, Krajcovic J, Bertelli M. Gatticchi L, et al. Among authors: benedetti s. Mol Genet Genomic Med. 2021 Apr;9(4):e1630. doi: 10.1002/mgg3.1630. Epub 2021 Mar 16. Mol Genet Genomic Med. 2021. PMID: 33724725 Free PMC article.
The Role of Olive Tree Polyphenols In The Prevention of COVID-19: A Scoping Review Part 2.
Dhuli K, Micheletti C, Maltese PE, Tanzi B, Benedetti S, Tezzele S, Mareso C, Connelly ST, Gaffuri F, Tartaglia GM, Nodari S, Arabia G, Fioretti F, Calandri C, Perrone MA, Bertelli M. Dhuli K, et al. Among authors: benedetti s. Clin Ter. 2023 Nov-Dec;174(Suppl 2(6)):149-153. doi: 10.7417/CT.2023.2481. Clin Ter. 2023. PMID: 37994758 Free article. Review.
Assessing the efficacy of an innovative diagnostic method for identifying 5 % variants in somatic ctDNA.
Mareso C, Crosta L, De Vita MG, Cristofoli F, Tanzi B, Benedetti S, Bonetti G, Donofrio CA, Cominetti M, Riccio L, Fioravanti A, Generali D, Lucci Cordisco E, Chiurazzi P, Gatta V, Stuppia L, Cecchin S, Bertelli M, Marceddu G. Mareso C, et al. Among authors: benedetti s. Gene. 2024 Nov 30;928:148771. doi: 10.1016/j.gene.2024.148771. Epub 2024 Jul 19. Gene. 2024. PMID: 39032702 Free article.
313 results