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214 results

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Page 1
A Unique Presentation of Bilateral Chorioretinal Atrophy.
Grosso A, Yannuzzi LA, Tsang SH, Ceruti P, Sarraf D, Zamir E, Kaminska K, Quinodoz M, Amoroso A, Deaglio S, Francis JH, Fioretto M, Rivolta C, Calzetti G. Grosso A, et al. Among authors: deaglio s. Asia Pac J Ophthalmol (Phila). 2023 Sep-Oct 01;12(5):500-501. doi: 10.1097/APO.0000000000000563. Epub 2022 Oct 28. Asia Pac J Ophthalmol (Phila). 2023. PMID: 36650090 Free article. No abstract available.
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 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 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.
RICTOR/mTORC2 downregulation in BRAFV600E melanoma cells promotes resistance to BRAF/MEK inhibition.
Ponzone L, Audrito V, Landi C, Moiso E, Levra Levron C, Ferrua S, Savino A, Vitale N, Gasparrini M, Avalle L, Vantaggiato L, Shaba E, Tassone B, Saoncella S, Orso F, Viavattene D, Marina E, Fiorilla I, Burrone G, Abili Y, Altruda F, Bini L, Deaglio S, Defilippi P, Menga A, Poli V, Porporato PE, Provero P, Raffaelli N, Riganti C, Taverna D, Cavallo F, Calautti E. Ponzone L, et al. Among authors: deaglio s. Mol Cancer. 2024 May 16;23(1):105. doi: 10.1186/s12943-024-02010-1. Mol Cancer. 2024. PMID: 38755661 Free PMC article.
Decreased apoptotic priming and loss of BCL-2 dependence are functional hallmarks of Richter's syndrome.
Rigo A, Vaisitti T, Laudanna C, Terrabuio E, Micillo M, Frusteri C, D'Ulivo B, Merigo F, Sbarbati A, Mellert K, Möeller P, Montresor A, Di Napoli A, Cirombella R, Butturini E, Massaia M, Constantin G, Vinante F, Deaglio S, Ferrarini I. Rigo A, et al. Among authors: deaglio s. Cell Death Dis. 2024 May 9;15(5):323. doi: 10.1038/s41419-024-06707-5. Cell Death Dis. 2024. PMID: 38724507 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: deaglio s. Eur J Endocrinol. 2024 Mar 30;190(4):296-306. doi: 10.1093/ejendo/lvae035. Eur J Endocrinol. 2024. PMID: 38561929
214 results