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Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia.
Saglia C, Arruga F, Scolari C, Kalantari S, Albanese S, Bracciamà V, Corso Faini A, Brach Del Prever G, Luca M, Romeo C, Mioli F, Migliorero M, Tessaris D, Carli D, Amoroso A, Vaisitti T, De Sanctis L, Deaglio S. Saglia C, et al. Among authors: mioli f. Eur J Endocrinol. 2024 Mar 30;190(4):296-306. doi: 10.1093/ejendo/lvae035. Eur J Endocrinol. 2024. PMID: 38561929
Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.
Saglia C, Bracciamà V, Trotta L, Mioli F, Faini AC, Brach Del Prever GM, Kalantari S, Luca M, Romeo CM, Scolari C, Peruzzi L, Calvo PL, Mussa A, Fenoglio R, Roccatello D, Alberti C, Carli D, Amoroso A, Deaglio S, Vaisitti T. Saglia C, et al. Among authors: mioli f. BMC Med Genomics. 2023 Nov 27;16(1):303. doi: 10.1186/s12920-023-01747-w. BMC Med Genomics. 2023. PMID: 38012624 Free PMC article.
The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution.
Vaisitti T, Bracciamà V, Faini AC, Brach Del Prever GM, Callegari M, Kalantari S, Mioli F, Romeo CM, Luca M, Camilla R, Mattozzi F, Gianoglio B, Peruzzi L, Amoroso A, Deaglio S. Vaisitti T, et al. Among authors: mioli f. Hum Genomics. 2023 Feb 13;17(1):10. doi: 10.1186/s40246-023-00456-w. Hum Genomics. 2023. PMID: 36782285 Free PMC article.
Validation of a Simple, Rapid, and Cost-Effective Method for Acute Rejection Monitoring in Lung Transplant Recipients.
Sorbini M, Togliatto G, Mioli F, Simonato E, Marro M, Cappuccio M, Arruga F, Caorsi C, Mansouri M, Magistroni P, Gambella A, Delsedime L, Papotti MG, Solidoro P, Albera C, Boffini M, Rinaldi M, Amoroso A, Vaisitti T, Deaglio S. Sorbini M, et al. Among authors: mioli f. Transpl Int. 2022 Jun 9;35:10546. doi: 10.3389/ti.2022.10546. eCollection 2022. Transpl Int. 2022. PMID: 35755857 Free PMC article.