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Parental origin of de novo MECP2 mutations in Rett syndrome.
Girard M, Couvert P, Carrié A, Tardieu M, Chelly J, Beldjord C, Bienvenu T. Girard M, et al. Among authors: chelly j. Eur J Hum Genet. 2001 Mar;9(3):231-6. doi: 10.1038/sj.ejhg.5200618. Eur J Hum Genet. 2001. PMID: 11313764
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: chelly j. 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
622 results