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Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.
Raviglione F, Douzgou S, Scala M, Mingarelli A, D'Arrigo S, Freri E, Darra F, Giglio S, Bonaglia MC, Pantaleoni C, Mastrangelo M, Epifanio R, Elia M, Saletti V, Morlino S, Vari MS, De Liso P, Pavaine J, Spaccini L, Cattaneo E, Gardella E, Møller RS, Marchese F, Colonna C, Gandioli C, Gobbi G, Ram D, Palumbo O, Carella M, Germano M, Tonduti D, De Angelis D, Caputo D, Bergonzini P, Novara F, Zuffardi O, Verrotti A, Orsini A, Bonuccelli A, De Muto MC, Trivisano M, Vigevano F, Granata T, Bernardina BD, Tranchina A, Striano P. Raviglione F, et al. Among authors: zuffardi o. Seizure. 2021 May;88:60-72. doi: 10.1016/j.seizure.2021.03.025. Epub 2021 Mar 30. Seizure. 2021. PMID: 33831796 Free article.
MEF2C deletions and mutations versus duplications: a clinical comparison.
Novara F, Rizzo A, Bedini G, Girgenti V, Esposito S, Pantaleoni C, Ciccone R, Sciacca FL, Achille V, Della Mina E, Gana S, Zuffardi O, Estienne M. Novara F, et al. Among authors: zuffardi o. Eur J Med Genet. 2013 May;56(5):260-5. doi: 10.1016/j.ejmg.2013.01.011. Epub 2013 Feb 10. Eur J Med Genet. 2013. PMID: 23402836
Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes.
Alfei E, Raviglione F, Franceschetti S, D'Arrigo S, Milani D, Selicorni A, Riva D, Zuffardi O, Pantaleoni C, Binelli S. Alfei E, et al. Among authors: zuffardi o. Am J Med Genet A. 2014 Dec;164A(12):3154-61. doi: 10.1002/ajmg.a.36746. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25257908
Refining the phenotype associated with MEF2C haploinsufficiency.
Novara F, Beri S, Giorda R, Ortibus E, Nageshappa S, Darra F, Dalla Bernardina B, Zuffardi O, Van Esch H. Novara F, et al. Among authors: zuffardi o. Clin Genet. 2010 Nov;78(5):471-7. doi: 10.1111/j.1399-0004.2010.01413.x. Clin Genet. 2010. PMID: 20412115
Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23).
Broli M, Bisulli F, Mastrangelo M, Fontana E, Fiocchi I, Zucca C, Bonaglia MC, Buono S, Musumeci SA, Romano C, Reitano S, Savio M, Vitello GA, Bernardi B, Cevolani D, Agati R, Poda R, Gallassi R, Giorda R, Zuffardi O, Bernardina BD, Seri M, Tinuper P. Broli M, et al. Among authors: zuffardi o. Epileptic Disord. 2011 Sep;13(3):240-51. doi: 10.1684/epd.2011.0462. Epileptic Disord. 2011. PMID: 21926047 Free article.
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.
Giorda R, Bonaglia MC, Beri S, Fichera M, Novara F, Magini P, Urquhart J, Sharkey FH, Zucca C, Grasso R, Marelli S, Castiglia L, Di Benedetto D, Musumeci SA, Vitello GA, Failla P, Reitano S, Avola E, Bisulli F, Tinuper P, Mastrangelo M, Fiocchi I, Spaccini L, Torniero C, Fontana E, Lynch SA, Clayton-Smith J, Black G, Jonveaux P, Leheup B, Seri M, Romano C, dalla Bernardina B, Zuffardi O. Giorda R, et al. Among authors: zuffardi o. Am J Hum Genet. 2009 Sep;85(3):394-400. doi: 10.1016/j.ajhg.2009.08.001. Epub 2009 Aug 27. Am J Hum Genet. 2009. PMID: 19716111 Free PMC article.
383 results