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Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Grati FR, Bestetti I, De Siero D, Malvestiti F, Villa N, Sala E, Crosti F, Parisi V, Nardone AM, Di Giacomo G, Pettinari A, Tortora G, Montaldi A, Calò A, Saccilotto D, Zanchetti S, Celli P, Guerneri S, Silipigni R, Cardarelli L, Lippi E, Cavani S, Malacarne M, Genesio R, Beltrami N, Pittalis MC, Desiderio L, Gentile M, Ficarella R, Recalcati MP, Catusi I, Garzo M, Miele L, Corti C, Ghezzo S, Bertini V, Cambi F, Valetto A, Facchinetti B, Bernardini L, Capalbo A, Balducci F, Pelo E, Minuti B, Pescucci C, Giuliani C, Renieri A, Longo I, Tita R, Castello G, Casalone R, Righi R, Raso B, Civolani A, Muzi MC, di Natale M, Varriale L, Gasperini D, Nuzzi MC, Cellamare A, Casieri P, Busuito R, Ceccarini C, Cesarano C, Privitera O, Melani D, Menozzi C, Falcinelli C, Calabrese O, Battaglia P, Tanzariello A, Stampalija T, Ardisia C, Gasparini P, Benn P, Novelli A. Grati FR, et al. Among authors: pelo e. Prenat Diagn. 2022 Dec;42(13):1575-1586. doi: 10.1002/pd.6271. Epub 2022 Nov 30. Prenat Diagn. 2022. PMID: 36403097 Free article.
A novel GRK1 mutation in an Italian patient with Oguchi disease.
Mucciolo DP, Sodi A, Murro V, Passerini I, Palchetti S, Pelo E, Virgili G, Rizzo S. Mucciolo DP, et al. Among authors: pelo e. Ophthalmic Genet. 2018 Jan-Feb;39(1):137-138. doi: 10.1080/13816810.2017.1323341. Epub 2017 May 16. Ophthalmic Genet. 2018. PMID: 28511019 No abstract available.
Choroidal Vascularity Index in CHM Carriers.
Mucciolo DP, Giorgio D, Lippera M, Passerini I, Pelo E, Cipollini F, Sodi A, Virgili G, Giansanti F, Murro V. Mucciolo DP, et al. Among authors: pelo e. Front Ophthalmol (Lausanne). 2021 Oct 20;1:755058. doi: 10.3389/fopht.2021.755058. eCollection 2021. Front Ophthalmol (Lausanne). 2021. PMID: 38983966 Free PMC article.
Fundus phenotype in retinitis pigmentosa associated with EYS mutations.
Mucciolo DP, Sodi A, Passerini I, Murro V, Cipollini F, Borg I, Pelo E, Contini E, Virgili G, Rizzo S. Mucciolo DP, et al. Among authors: pelo e. Ophthalmic Genet. 2018 Oct;39(5):589-602. doi: 10.1080/13816810.2018.1509351. Epub 2018 Aug 28. Ophthalmic Genet. 2018. PMID: 30153090
41 results