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Page 1
A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases.
Becherucci F, Landini S, Palazzo V, Cirillo L, Raglianti V, Lugli G, Tiberi L, Dirupo E, Bellelli S, Mazzierli T, Lomi J, Ravaglia F, Sansavini G, Allinovi M, Giannese D, Somma C, Spatoliatore G, Vergani D, Artuso R, Rosati A, Cirami C, Dattolo PC, Campolo G, De Chiara L, Papi L, Vaglio A, Lazzeri E, Anders HJ, Mazzinghi B, Romagnani P. Becherucci F, et al. Among authors: tiberi l. J Am Soc Nephrol. 2023 Apr 1;34(4):706-720. doi: 10.1681/ASN.0000000000000076. Epub 2023 Jan 17. J Am Soc Nephrol. 2023. PMID: 36753701 Free PMC article.
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Provenzano A, La Barbera A, Scagnet M, Pagliazzi A, Traficante G, Pantaleo M, Tiberi L, Vergani D, Kurtas NE, Guarducci S, Bargiacchi S, Forzano G, Artuso R, Palazzo V, Kura A, Giordano F, di Feo D, Mortilla M, De Filippi C, Mattei G, Garavelli L, Giusti B, Genitori L, Zuffardi O, Giglio S. Provenzano A, et al. Among authors: tiberi l. Hum Genet. 2021 Apr;140(4):625-647. doi: 10.1007/s00439-020-02231-6. Epub 2020 Dec 18. Hum Genet. 2021. PMID: 33337535 Free PMC article.
Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.
Palazzo V, Raglianti V, Landini S, Cirillo L, Errichiello C, Buti E, Artuso R, Tiberi L, Vergani D, Dirupo E, Romagnani P, Mazzinghi B, Becherucci F. Palazzo V, et al. Among authors: tiberi l. Int J Mol Sci. 2022 May 18;23(10):5641. doi: 10.3390/ijms23105641. Int J Mol Sci. 2022. PMID: 35628451 Free PMC article.
PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes.
Attardi E, Andolfo I, Russo R, Tiberi L, Raddi MG, Rosato BE, Marra R, Formicola D, Del Giudice F, Brogi A, Consagra A, Amato C, Sanna A, Artuso R, Iolascon A, Santini V. Attardi E, et al. Among authors: tiberi l. Am J Hematol. 2023 Apr;98(4):E72-E75. doi: 10.1002/ajh.26863. Epub 2023 Feb 14. Am J Hematol. 2023. PMID: 36695705 Free article. No abstract available.
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature.
Palterer B, Salvati L, Capone M, Mecheri V, Maggi L, Mazzoni A, Cosmi L, Volpi N, Tiberi L, Provenzano A, Giglio S, Parronchi P, Maggiore G, Gallo O, Bartoloni A, Annunziato F, Zammarchi L, Liotta F. Palterer B, et al. Among authors: tiberi l. Front Immunol. 2022 Apr 28;13:840767. doi: 10.3389/fimmu.2022.840767. eCollection 2022. Front Immunol. 2022. PMID: 35572607 Free PMC article.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Dodd DO, et al. Among authors: tiberi l. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826
Evaluating cell culture reliability in pediatric brain tumor primary cells through DNA methylation profiling.
Pedace L, Pizzi S, Abballe L, Vinci M, Antonacci C, Patrizi S, Nardini C, Del Bufalo F, Rossi S, Pericoli G, Gianno F, Besharat ZM, Tiberi L, Mastronuzzi A, Ferretti E, Tartaglia M, Locatelli F, Ciolfi A, Miele E. Pedace L, et al. Among authors: tiberi l. NPJ Precis Oncol. 2024 Apr 18;8(1):92. doi: 10.1038/s41698-024-00578-x. NPJ Precis Oncol. 2024. PMID: 38637626 Free PMC article.
Oncogenic enhancers prime quiescent metastatic cells to escape NK immune surveillance by eliciting transcriptional memory.
Michelatti D, Beyes S, Bernardis C, Negri ML, Morelli L, Bediaga NG, Poli V, Fagnocchi L, Lago S, D'Annunzio S, Cona N, Gaspardo I, Bianchi A, Jovetic J, Gianesello M, Turdo A, D'Accardo C, Gaggianesi M, Dori M, Forcato M, Crispatzu G, Rada-Iglesias A, Sosa MS, Timmers HTM, Bicciato S, Todaro M, Tiberi L, Zippo A. Michelatti D, et al. Among authors: tiberi l. Nat Commun. 2024 Mar 19;15(1):2198. doi: 10.1038/s41467-024-46524-0. Nat Commun. 2024. PMID: 38503727 Free PMC article.
43 results