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Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy.
Bottillo I, Ciccone MP, Magliozzi M, Pilichou K, Girotto G, Girolami F, Cecconi M, D'Argenio V, Novelli V, Coiana A, Formicola D, Micaglio E, Tortora G, Gualandi F, Petrucci S; Italian Cardiogenetics Study Group; Castori M, Resta N, Vestri AR, Iascone M, Grammatico P. Bottillo I, et al. Among authors: tortora g. J Mol Cell Cardiol. 2024 Dec 12;199:46-50. doi: 10.1016/j.yjmcc.2024.12.004. Online ahead of print. J Mol Cell Cardiol. 2024. PMID: 39674365 No abstract available.
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Scott A, Di Giosaffatte N, Pinna V, Daniele P, Corno S, D'Ambrosio V, Andreucci E, Marozza A, Sirchia F, Tortora G, Mangiameli D, Di Marco C, Romagnoli M, Donati I, Zonta A, Grosso E, Naretto VG, Mastromoro G, Versacci P, Pantaleoni F, Radio FC, Mazza T, Damante G, Papi L, Mattina T, Giancotti A, Pizzuti A, Laberge AM, Tartaglia M, Delrue MA, De Luca A. Scott A, et al. Among authors: tortora g. Genet Med. 2021 Jun;23(6):1116-1124. doi: 10.1038/s41436-020-01093-7. Epub 2021 Feb 10. Genet Med. 2021. PMID: 33568805 Free article.
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: tortora g. Prenat Diagn. 2022 Dec;42(13):1575-1586. doi: 10.1002/pd.6271. Epub 2022 Nov 30. Prenat Diagn. 2022. PMID: 36403097 Free article.
Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.
Bonora E, Graziano C, Minopoli F, Bacchelli E, Magini P, Diquigiovanni C, Lomartire S, Bianco F, Vargiolu M, Parchi P, Marasco E, Mantovani V, Rampoldi L, Trudu M, Parmeggiani A, Battaglia A, Mazzone L, Tortora G; IMGSAC; Maestrini E, Seri M, Romeo G. Bonora E, et al. Among authors: tortora g. EMBO Mol Med. 2014 Jun;6(6):795-809. doi: 10.1002/emmm.201303235. Epub 2014 Apr 6. EMBO Mol Med. 2014. PMID: 24737869 Free PMC article.
Antibody-based delivery of interleukin-2 modulates the immunosuppressive tumor microenvironment and achieves cure in pancreatic ductal adenocarcinoma syngeneic mice.
Carbone C, De Luca R, Puca E, Agostini A, Caggiano A, Priori L, Esposito A, Ascrizzi S, Piro G, Salvatore L, De Sanctis F, Ugel S, Corbo V, Neri D, Tortora G. Carbone C, et al. Among authors: tortora g. J Exp Clin Cancer Res. 2025 Jan 7;44(1):7. doi: 10.1186/s13046-024-03238-x. J Exp Clin Cancer Res. 2025. PMID: 39773310 Free PMC article.
736 results