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Page 1
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: faini ac. 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.
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: corso faini a. Eur J Endocrinol. 2024 Mar 30;190(4):296-306. doi: 10.1093/ejendo/lvae035. Eur J Endocrinol. 2024. PMID: 38561929
Matching clinical and genetic data in pediatric patients at risk of developing cystic kidney disease.
Bracciamà V, Vaisitti T, Mioli F, Faini AC, Del Prever GMB, Martins VH, Camilla R, Mattozzi F, Pieretti S, Luca M, Romeo CM, Saglia C, Migliorero M, Arruga F, Carli D, Amoroso A, Lonardi P, Deaglio S, Peruzzi L. Bracciamà V, et al. Among authors: faini ac. Pediatr Nephrol. 2025 Mar;40(3):743-753. doi: 10.1007/s00467-024-06548-6. Epub 2024 Oct 10. Pediatr Nephrol. 2025. PMID: 39384646 Free PMC article.
Genomic and Transcriptomic Profile of HNF1A-Mutated Liver Adenomas Highlights Molecular Signature and Potential Therapeutic Implications.
Faini AC, Arruga F, Pinon M, Bracciamà V, Vallone FE, Mioli F, Sorbini M, Migliorero M, Gambella A, Carota D, Giraudo I, Cassoni P, Catalano S, Romagnoli R, Amoroso A, Calvo PL, Vaisitti T, Deaglio S. Faini AC, et al. Int J Mol Sci. 2024 Sep 29;25(19):10483. doi: 10.3390/ijms251910483. Int J Mol Sci. 2024. PMID: 39408812 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: faini ac. Hum Genomics. 2023 Feb 13;17(1):10. doi: 10.1186/s40246-023-00456-w. Hum Genomics. 2023. PMID: 36782285 Free PMC article.
14 results