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Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor.
Moavero R, Folgiero V, Carai A, Miele E, Ferretti E, Po A, Diomedi Camassei F, Lepri FR, Vigevano F, Curatolo P, Valeriani M, Colafati GS, Locatelli F, Tornesello A, Mastronuzzi A. Moavero R, et al. Among authors: lepri fr. Pediatr Blood Cancer. 2016 Apr;63(4):719-22. doi: 10.1002/pbc.25851. Epub 2015 Dec 2. Pediatr Blood Cancer. 2016. PMID: 26626406
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.
Baban A, Olivini N, Lepri FR, Calì F, Mucciolo M, Digilio MC, Calcagni G, di Mambro C, Dallapiccola B, Adorisio R, Novelli A, Drago F. Baban A, et al. Among authors: lepri fr. Am J Med Genet A. 2019 Oct;179(10):2083-2090. doi: 10.1002/ajmg.a.61312. Epub 2019 Aug 1. Am J Med Genet A. 2019. PMID: 31368652 Review.
Hypoglycaemia Metabolic Gene Panel Testing.
Maiorana A, Lepri FR, Novelli A, Dionisi-Vici C. Maiorana A, et al. Among authors: lepri fr. Front Endocrinol (Lausanne). 2022 Mar 29;13:826167. doi: 10.3389/fendo.2022.826167. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35422763 Free PMC article. Review.
Congenital heart defects in molecularly proven Kabuki syndrome patients.
Digilio MC, Gnazzo M, Lepri F, Dentici ML, Pisaneschi E, Baban A, Passarelli C, Capolino R, Angioni A, Novelli A, Marino B, Dallapiccola B. Digilio MC, et al. Am J Med Genet A. 2017 Nov;173(11):2912-2922. doi: 10.1002/ajmg.a.38417. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884922
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: lepri fr. Diagnostics (Basel). 2020 Aug 12;10(8):582. doi: 10.3390/diagnostics10080582. Diagnostics (Basel). 2020. PMID: 32806529 Free PMC article.
Congenital heart defects in molecularly confirmed KBG syndrome patients.
Digilio MC, Calcagni G, Gnazzo M, Versacci P, Dentici ML, Capolino R, Sinibaldi L, Baban A, Putotto C, Alfieri P, Unolt M, Lepri FR, Alesi V, Genovese S, Novelli A, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: lepri fr. Am J Med Genet A. 2022 Apr;188(4):1149-1159. doi: 10.1002/ajmg.a.62632. Epub 2021 Dec 31. Am J Med Genet A. 2022. PMID: 34971082
The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review.
Pietrobattista A, Della Volpe L, Francalanci P, Figà Talamanca L, Monti L, Lepri FR, Basso MS, Liccardo D, Della Corte C, Mosca A, Alterio T, Veraldi S, Callea F, Novelli A, Maggiore G. Pietrobattista A, et al. Among authors: lepri fr. Genes (Basel). 2023 Mar 17;14(3):739. doi: 10.3390/genes14030739. Genes (Basel). 2023. PMID: 36981010 Free PMC article. Review.
84 results