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Page 1
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder.
De Falco A, De Dominicis A, Trivisano M, Specchio N, Digilio MC, Piscopo C, Capra V, Scala M, Iacomino M, Accogli A, Romano F, Salpietro V, Mancardi M, Striano P, Operto FF, Gburek-Augustat J, Perrin L, Capri Y, Lupo V, Elia M, Manti F, Pisani F, Brunetti-Pierri N, Terrone G. De Falco A, et al. Among authors: digilio mc. Eur J Paediatr Neurol. 2025 Jan;54:8-17. doi: 10.1016/j.ejpn.2024.11.008. Epub 2024 Nov 23. Eur J Paediatr Neurol. 2025. PMID: 39603091
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology.
Garone G, Innocenti A, Grasso M, Mandarino A, Capuano A, Della Bella G, Frascarelli F, Diodato D, Onesimo R, Zampino G, Novelli A, Digilio MC, Bartuli A, Dentici ML, Parisi P, Galosi S, Tonduti D, Bertini E, Sinibaldi L, Specchio N. Garone G, et al. Among authors: digilio mc. Parkinsonism Relat Disord. 2024 Sep;126:107057. doi: 10.1016/j.parkreldis.2024.107057. Epub 2024 Jul 9. Parkinsonism Relat Disord. 2024. PMID: 39067319
MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.
Dominicis A, Sparascio FP, Stregapede F, Terracciano A, Verrigni D, Lepri FR, Cetola S, Dentici ML, Vigevano F, Novelli A, Specchio N, Trivisano M, Digilio MC. Dominicis A, et al. Among authors: digilio mc. Am J Med Genet A. 2025 Jun;197(6):e64010. doi: 10.1002/ajmg.a.64010. Epub 2025 Jan 31. Am J Med Genet A. 2025. PMID: 39890443 Review.
Neurodevelopmental and genetic findings in neonates with intracranial arteriovenous shunts: A case series.
Campi F, De Rose DU, Pugnaloni F, Ronci S, Calì M, Pro S, Longo D, Lucignani G, Raho L, Pisaneschi E, Digilio MC, Savarese I, Bersani I, Amante PG, Conti M, De Liso P, Capolupo I, Braguglia A, Gandolfo C, Dotta A. Campi F, et al. Among authors: digilio mc. Front Pediatr. 2023 Mar 29;11:1111527. doi: 10.3389/fped.2023.1111527. eCollection 2023. Front Pediatr. 2023. PMID: 37063679 Free PMC article.
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.
Gazzin A, Fornari F, Niceta M, Leoni C, Dentici ML, Carli D, Villar AM, Calcagni G, Banaudi E, Massuras S, Cardaropoli S, Airulo E, Daniele P, Monda E, Limongelli G, Riggi C, Zampino G, Digilio MC, De Luca A, Tartaglia M, Ferrero GB, Mussa A. Gazzin A, et al. Among authors: digilio mc. Eur J Hum Genet. 2024 Aug;32(8):964-971. doi: 10.1038/s41431-024-01643-6. Epub 2024 Jun 1. Eur J Hum Genet. 2024. PMID: 38824260
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism.
Lombardo A, Sinibaldi L, Genovese S, Catino G, Mei V, Pompili D, Sallicandro E, Falasca R, Liambo MT, Faggiano MV, Roberti MC, Di Donato M, Vitelli A, Russo S, Giannini R, Micalizzi A, Pietrafusa N, Digilio MC, Novelli A, Fusco L, Alesi V. Lombardo A, et al. Among authors: digilio mc. Int J Mol Sci. 2024 Jun 24;25(13):6912. doi: 10.3390/ijms25136912. Int J Mol Sci. 2024. PMID: 39000022 Free PMC article.
444 results