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MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.
Vacca M, Filippini F, Budillon A, Rossi V, Della Ragione F, De Bonis ML, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, Macdonald F, Kerr A, Dhanjal S, Hulten M. Vacca M, et al. Brain Dev. 2001 Dec;23 Suppl 1:S246-50. doi: 10.1016/s0387-7604(01)00343-6. Brain Dev. 2001. PMID: 11738884
DHPLC analysis of the MECP2 gene in Italian Rett patients.
Nicolao P, Carella M, Giometto B, Tavolato B, Cattin R, Giovannucci-Uzielli ML, Vacca M, Della Regione F, Piva S, Bortoluzzi S, Gasparini P. Nicolao P, et al. Hum Mutat. 2001 Aug;18(2):132-40. doi: 10.1002/humu.1162. Hum Mutat. 2001. PMID: 11462237
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
Vacca M, Filippini F, Budillon A, Rossi V, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, MacDonald F, Kerr A, Dhanjal S, Hultén M. Vacca M, et al. J Mol Med (Berl). 2001;78(11):648-55. doi: 10.1007/s001090000155. J Mol Med (Berl). 2001. PMID: 11269512
Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region.
Ciccodicola A, D'Esposito M, Esposito T, Gianfrancesco F, Migliaccio C, Miano MG, Matarazzo MR, Vacca M, Franzè A, Cuccurese M, Cocchia M, Curci A, Terracciano A, Torino A, Cocchia S, Mercadante G, Pannone E, Archidiacono N, Rocchi M, Schlessinger D, D'Urso M. Ciccodicola A, et al. Hum Mol Genet. 2000 Feb 12;9(3):395-401. doi: 10.1093/hmg/9.3.395. Hum Mol Genet. 2000. PMID: 10655549