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Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.
Mari F, Marozza A, Mencarelli MA, Lo Rizzo C, Fallerini C, Dosa L, Di Marco C, Carignani G, Baldassarri M, Cianci P, Vivarelli R, Vascotto M, Grosso S, Rubegni P, Caffarelli C, Pretegiani E, Fimiani M, Garavelli L, Cristofoli F, Vermeesch JR, Nuti R, Dotti MT, Balestri P, Hayek J, Selicorni A, Renieri A. Mari F, et al. Among authors: vivarelli r. Brain Dev. 2015 May;37(5):527-36. doi: 10.1016/j.braindev.2014.08.009. Epub 2014 Sep 22. Brain Dev. 2015. PMID: 25249037
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B. Wieczorek D, et al. Among authors: vivarelli r. Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1. Hum Mol Genet. 2013. PMID: 23906836 Free article.
Epilepsy in neurofibromatosis 1.
Vivarelli R, Grosso S, Calabrese F, Farnetani M, Di Bartolo R, Morgese G, Balestri P. Vivarelli R, et al. J Child Neurol. 2003 May;18(5):338-42. doi: 10.1177/08830738030180050501. J Child Neurol. 2003. PMID: 12822818
Craniofacial dyssynostosis: case report and review.
Grosso S, Vivarelli R, Muraca MC, Berardi R, Marconcini S, Morgese G, Balestri P. Grosso S, et al. Among authors: vivarelli r. Am J Med Genet A. 2004 Sep 1;129A(3):300-2. doi: 10.1002/ajmg.a.30186. Am J Med Genet A. 2004. PMID: 15326632
Late-onset childhood occipital epilepsy (Gastaut type): a family study.
Grosso S, Vivarelli R, Gobbi G, Di Bartolo R, Berardi R, Balestri P. Grosso S, et al. Among authors: vivarelli r. Eur J Paediatr Neurol. 2008 Sep;12(5):421-6. doi: 10.1016/j.ejpn.2007.11.007. Epub 2008 Jan 30. Eur J Paediatr Neurol. 2008. PMID: 18249143
Malformations of cortical development in neurofibromatosis type 1.
Balestri P, Vivarelli R, Grosso S, Santori L, Farnetani MA, Galluzzi P, Vatti GP, Calabrese F, Morgese G. Balestri P, et al. Among authors: vivarelli r. Neurology. 2003 Dec 23;61(12):1799-801. doi: 10.1212/01.wnl.0000099080.90726.ba. Neurology. 2003. PMID: 14694053
37 results