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Page 1
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: deaglio s. Pediatr Nephrol. 2024 Oct 10. doi: 10.1007/s00467-024-06548-6. Online ahead of print. Pediatr Nephrol. 2024. PMID: 39384646
New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome?
Pinon M, Gambella A, Giugliano L, Chiadò C, Kalantari S, Bracciamà V, Deaglio S, Tinti D, Peruzzi L, Cotti R, Catalano S, Cadamuro M, Fabris L, Calvo PL, Romagnoli R. Pinon M, et al. Among authors: deaglio s. BMJ Open Gastroenterol. 2022 Dec;9(1):e001013. doi: 10.1136/bmjgast-2022-001013. BMJ Open Gastroenterol. 2022. PMID: 36572455 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: deaglio s. Hum Genomics. 2023 Feb 13;17(1):10. doi: 10.1186/s40246-023-00456-w. Hum Genomics. 2023. PMID: 36782285 Free PMC article.
The humoral and cellular response to mRNA SARS-CoV-2 vaccine is influenced by HLA polymorphisms.
Bertinetto FE, Magistroni P, Mazzola GA, Costa C, Elena G, Alizzi S, Scozzari G, Migliore E, Galassi C, Ciccone G, Ricciardelli G, Scarmozzino A, Angelone L, Cassoni P, Cavallo R, Vaisitti T, Deaglio S, Amoroso A; Collaborative Group. Bertinetto FE, et al. Among authors: deaglio s. HLA. 2023 Sep;102(3):301-315. doi: 10.1111/tan.15049. Epub 2023 Apr 3. HLA. 2023. PMID: 37010080
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: deaglio s. 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 frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy.
Vaisitti T, Peritore D, Magistroni P, Ricci A, Lombardini L, Gringeri E, Catalano S, Spada M, Sciveres M, Di Giorgio A, Limongelli G, Varrenti M, Gerosa G, Terzi A, Pace Napoleone C, Amodeo A, Ragni L, Dello Strologo L, Benetti E, Fontana I, Testa S, Peruzzi L, Mitrotti A, Abbate S, Comai G, Gotti E, Schiavon M, Boffini M, De Angelis D, Bertani A, Pinelli D, Torre M, Poggi C, Deaglio S, Cardillo M, Amoroso A; Italian Pediatric Transplant Centers. Vaisitti T, et al. Among authors: deaglio s. Orphanet J Rare Dis. 2021 Sep 4;16(1):374. doi: 10.1186/s13023-021-02013-x. Orphanet J Rare Dis. 2021. PMID: 34481500 Free PMC article.
Urine-derived podocytes from steroid resistant nephrotic syndrome patients as a model for renal-progenitor derived extracellular vesicles effect and drug screening.
Tanzi A, Buono L, Grange C, Iampietro C, Brossa A, Arcolino FO, Arigoni M, Calogero R, Perin L, Deaglio S, Levtchenko E, Peruzzi L, Bussolati B. Tanzi A, et al. Among authors: deaglio s. J Transl Med. 2024 Aug 14;22(1):762. doi: 10.1186/s12967-024-05575-z. J Transl Med. 2024. PMID: 39143486 Free PMC article.
Decreased trabecular bone score in patients affected by Fabry disease.
Varaldo E, Giannone B, Viglino F, Settanni F, Bioletto F, Barale M, Procopio M, Deaglio S, Ghigo E, Benso A. Varaldo E, et al. Among authors: deaglio s. J Endocrinol Invest. 2024 Oct 3. doi: 10.1007/s40618-024-02427-x. Online ahead of print. J Endocrinol Invest. 2024. PMID: 39361238
226 results