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Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.
Turco EM, Giovenale AMG, Sireno L, Mazzoni M, Cammareri A, Marchioretti C, Goracci L, Di Veroli A, Marchesan E, D'Andrea D, Falconieri A, Torres B, Bernardini L, Magnifico MC, Paone A, Rinaldo S, Della Monica M, D'Arrigo S, Postorivo D, Nardone AM, Zampino G, Onesimo R, Leoni C, Caicci F, Raimondo D, Binda E, Trobiani L, De Jaco A, Tata AM, Ferrari D, Cutruzzolà F, Mazzoccoli G, Ziviani E, Pennuto M, Vescovi AL, Rosati J. Turco EM, et al. Among authors: leoni c. Cell Death Dis. 2022 Nov 21;13(11):981. doi: 10.1038/s41419-022-05410-7. Cell Death Dis. 2022. PMID: 36411275 Free PMC article.
Wolf-Hirschhorn syndrome with improvement of renal function.
Ferrara P, Del Bufalo F, Nicoletti A, Romano V, Gatto A, Leoni C, Zampino G. Ferrara P, et al. Among authors: leoni c. Am J Med Genet A. 2010 May;152A(5):1283-4. doi: 10.1002/ajmg.a.33357. Am J Med Genet A. 2010. PMID: 20425837
Dystonia in Costello syndrome.
Dileone M, Zampino G, Profice P, Pilato F, Leoni C, Ranieri F, Capone F, Tartaglia M, Brown P, Di Lazzaro V. Dileone M, et al. Among authors: leoni c. Parkinsonism Relat Disord. 2012 Jul;18(6):798-800. doi: 10.1016/j.parkreldis.2012.03.015. Epub 2012 Apr 15. Parkinsonism Relat Disord. 2012. PMID: 22510203
Decreased bone mineral density in Costello syndrome.
Leoni C, Stevenson DA, Martini L, De Sanctis R, Mascolo G, Pantaleoni F, De Santis S, La Torraca I, Persichilli S, Caradonna P, Tartaglia M, Zampino G. Leoni C, et al. Mol Genet Metab. 2014 Jan;111(1):41-5. doi: 10.1016/j.ymgme.2013.08.007. Epub 2013 Aug 16. Mol Genet Metab. 2014. PMID: 24246682
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation.
Gatto A, Ferrara P, Leoni C, Onesimo R, Zollino M, Emma F, Zampino G. Gatto A, et al. Among authors: leoni c. Am J Med Genet A. 2018 Feb;176(2):409-414. doi: 10.1002/ajmg.a.38554. Epub 2017 Nov 28. Am J Med Genet A. 2018. PMID: 29193639
210 results