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DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.
Niceta M, Ciolfi A, Ferilli M, Pedace L, Cappelletti C, Nardini C, Hildonen M, Chiriatti L, Miele E, Dentici ML, Gnazzo M, Cesario C, Pisaneschi E, Baban A, Novelli A, Maitz S, Selicorni A, Squeo GM, Merla G, Dallapiccola B, Tumer Z, Digilio MC, Priolo M, Tartaglia M. Niceta M, et al. Among authors: miele e. Eur J Hum Genet. 2024 Mar 25. doi: 10.1038/s41431-024-01597-9. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38528056
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Flex E, Martinelli S, Van Dijck A, Ciolfi A, Cecchetti S, Coluzzi E, Pannone L, Andreoli C, Radio FC, Pizzi S, Carpentieri G, Bruselles A, Catanzaro G, Pedace L, Miele E, Carcarino E, Ge X, Chijiwa C, Lewis MES, Meuwissen M, Kenis S, Van der Aa N, Larson A, Brown K, Wasserstein MP, Skotko BG, Begtrup A, Person R, Karayiorgou M, Roos JL, Van Gassen KL, Koopmans M, Bijlsma EK, Santen GWE, Barge-Schaapveld DQCM, Ruivenkamp CAL, Hoffer MJV, Lalani SR, Streff H, Craigen WJ, Graham BH, van den Elzen APM, Kamphuis DJ, Õunap K, Reinson K, Pajusalu S, Wojcik MH, Viberti C, Di Gaetano C, Bertini E, Petrucci S, De Luca A, Rota R, Ferretti E, Matullo G, Dallapiccola B, Sgura A, Walkiewicz M, Kooy RF, Tartaglia M. Flex E, et al. Among authors: miele e. Am J Hum Genet. 2019 Sep 5;105(3):493-508. doi: 10.1016/j.ajhg.2019.07.007. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447100 Free PMC article.
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.
Ciolfi A, Aref-Eshghi E, Pizzi S, Pedace L, Miele E, Kerkhof J, Flex E, Martinelli S, Radio FC, Ruivenkamp CAL, Santen GWE, Bijlsma E, Barge-Schaapveld D, Ounap K, Siu VM, Kooy RF, Dallapiccola B, Sadikovic B, Tartaglia M. Ciolfi A, et al. Among authors: miele e. Clin Epigenetics. 2020 Jan 7;12(1):7. doi: 10.1186/s13148-019-0804-0. Clin Epigenetics. 2020. PMID: 31910894 Free PMC article.
Modeling medulloblastoma in vivo and with human cerebellar organoids.
Ballabio C, Anderle M, Gianesello M, Lago C, Miele E, Cardano M, Aiello G, Piazza S, Caron D, Gianno F, Ciolfi A, Pedace L, Mastronuzzi A, Tartaglia M, Locatelli F, Ferretti E, Giangaspero F, Tiberi L. Ballabio C, et al. Among authors: miele e. Nat Commun. 2020 Jan 29;11(1):583. doi: 10.1038/s41467-019-13989-3. Nat Commun. 2020. PMID: 31996670 Free PMC article.
Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature.
Lodi M, Boccuto L, Carai A, Cacchione A, Miele E, Colafati GS, Diomedi Camassei F, De Palma L, De Benedictis A, Ferretti E, Catanzaro G, Pò A, De Luca A, Rinelli M, Lepri FR, Agolini E, Tartaglia M, Locatelli F, Mastronuzzi A. Lodi M, et al. Among authors: miele e. Diagnostics (Basel). 2020 Aug 12;10(8):582. doi: 10.3390/diagnostics10080582. Diagnostics (Basel). 2020. PMID: 32806529 Free PMC article.
Upfront treatment with mTOR inhibitor everolimus in pediatric low-grade gliomas: A single-center experience.
Cacchione A, Lodi M, Carai A, Miele E, Tartaglia M, Megaro G, Del Baldo G, Alessi I, Colafati GS, Carboni A, Boccuto L, Diomedi Camassei F, Catanzaro G, Po A, Ferretti E, Pedace L, Pizzi S, Folgiero V, Pezzullo M, Corsetti T, Secco DE, Cefalo MG, Locatelli F, Mastronuzzi A. Cacchione A, et al. Among authors: miele e. Int J Cancer. 2021 May 15;148(10):2522-2534. doi: 10.1002/ijc.33438. Epub 2020 Dec 27. Int J Cancer. 2021. PMID: 33320972 Free article.
Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination.
Rossi S, Barresi S, Giovannoni I, Alesi V, Ciolfi A, Colafati GS, Diomedi-Camassei F, Miele E, Cacchione A, Quacquarini D, Carai A, Tartaglia M, Giannini C, Giangaspero F, Mastronuzzi A, Alaggio R. Rossi S, et al. Among authors: miele e. Brain Pathol. 2021 May;31(3):e12934. doi: 10.1111/bpa.12934. Epub 2021 Feb 15. Brain Pathol. 2021. PMID: 33378126 Free PMC article.
Melanotic Neuroectodermal Tumor of Infancy (MNTI) and Pineal Anlage Tumor (PAT) Harbor A Medulloblastoma Signature by DNA Methylation Profiling.
Lopez-Nunez O, Alaggio R, John I, Ciolfi A, Pedace L, Mastronuzzi A, Gianno F, Giangaspero F, Rossi S, Donofrio V, Cinalli G, Surrey LF, Tartaglia M, Locatelli F, Miele E. Lopez-Nunez O, et al. Among authors: miele e. Cancers (Basel). 2021 Feb 9;13(4):706. doi: 10.3390/cancers13040706. Cancers (Basel). 2021. PMID: 33572349 Free PMC article.
462 results