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Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.
Magini P, Poscente M, Ferrari S, Vargiolu M, Bacchelli E, Graziano C, Wischmeijer A, Turchetti D, Malaspina E, Marchiani V, Cordelli DM, Franzoni E, Romeo G, Seri M. Magini P, et al. Among authors: marchiani v. Mol Cytogenet. 2015 Aug 1;8:58. doi: 10.1186/s13039-015-0164-1. eCollection 2015. Mol Cytogenet. 2015. PMID: 26236399 Free PMC article.
Electroclinical diagnosis of Angelman syndrome: a study of 7 cases.
Casara GL, Vecchi M, Boniver C, Drigo P, Baccichetti C, Artifoni L, Franzoni E, Marchiani V. Casara GL, et al. Among authors: marchiani v. Brain Dev. 1995 Jan-Feb;17(1):64-8. doi: 10.1016/0387-7604(94)00104-6. Brain Dev. 1995. PMID: 7762767
Band brain heterotopia. Case report and literature review.
Franzoni E, Bernardi B, Marchiani V, Crisanti AF, Marchi R, Fonda C. Franzoni E, et al. Among authors: marchiani v. Neuropediatrics. 1995 Feb;26(1):37-40. doi: 10.1055/s-2007-979717. Neuropediatrics. 1995. PMID: 7791949 Review.
X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter.
des Portes V, Bachner L, Brüls T, Beldjord C, Billuart P, Soufir N, Bienvenu T, Vinet MC, Malaspina E, Marchiani V, Bertini E, Kahn A, Franzoni E, Chelly J. des Portes V, et al. Among authors: marchiani v. Am J Med Genet. 1996 Jul 12;64(1):69-72. doi: 10.1002/(SICI)1096-8628(19960712)64:1<69::AID-AJMG10>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8826451
25 results