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Page 1
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A. Peluso F, et al. Among authors: digilio mc. J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. J Med Genet. 2023. PMID: 37586838 Free PMC article. Review.
Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature.
Maddaloni C, Ronci S, De Rose DU, Bersani I, Campi F, Di Nardo M, Stoppa F, Adorisio R, Amodeo A, Toscano A, Digilio MC, Novelli A, Chello G, Braguglia A, Dotta A, Calzolari F. Maddaloni C, et al. Among authors: digilio mc. Ital J Pediatr. 2024 Mar 5;50(1):41. doi: 10.1186/s13052-024-01575-3. Ital J Pediatr. 2024. PMID: 38443964 Free PMC article. Review.
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.
Bensaid S, Bendahmane M, Loddo S, Poke G, Januel L, Nicolle R, Malan V, Chatron N, Ottombrino S, Dentici ML, Novelli A, Digilio MC, Sanlaville D. Bensaid S, et al. Among authors: digilio mc. Am J Med Genet A. 2024 Jul;194(7):e63580. doi: 10.1002/ajmg.a.63580. Epub 2024 Mar 21. Am J Med Genet A. 2024. PMID: 38511524 Review.
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.
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
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.
435 results