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Mostrati risultati da 41 a 59 di 59
Data di pubblicazione Titolo Autore(i) File
1-gen-2011 West syndrome associated with 14q12 duplications harboring FOXG1 Striano, P; Paravidino, R; Sicca, F; Chiurazzi, Pietro; Gimelli, S; Coppola, A; Robbiano, A; Traverso, M; Pintaudi, M; Giovannini, S; Operto, F; Vigliano, P; Granata, T; Coppola, G; Romeo, A; Specchio, N; Giordano, L; Osborne, Lr; Gimelli, G; Minetti, C; Zara, F.
1-gen-2011 Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family Pirozzi, Filomena; Di Raimo, Francesca Romana; Zanni, G; Bertini, E; Billuart, P; Tartaglione, Tommaso; Tabolacci, Elisabetta; Brancaccio, Andrea; Neri, Giovanni; Chiurazzi, Pietro
1-gen-2010 Unexpected finding of paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother Pomponi, Maria Grazia; Pietrobono, Roberta; Neri, Caterina; Chiurazzi, Pietro; Neri, Giovanni
1-gen-2008 Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations. Tabolacci, Elisabetta; Moscato, Umberto; Zalfa, F; Bagni, C; Chiurazzi, Pietro; Neri, Giovanni
1-gen-2008 XLMR genes: update 2007 Chiurazzi, Pietro; Schwartz, Ce; Gecz, J; Neri, Giovanni
1-gen-2008 A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy Tabolacci, Elisabetta; Pomponi, Maria Grazia; Pietrobono, Roberta; Chiurazzi, Pietro; Neri, Giovanni
1-gen-2008 A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys Torrioli, Maria Giulia; Vernacotola, Silvia; Peruzzi, Laura; Tabolacci, Elisabetta; Mila, M; Militerni, R; Musumeci, Sebastiano; Ramos, Fj; Frontera, M; Sorge, G; Marzullo, E; Romeo, G; Vallee, L; Veneselli, E; Cocchi, E; Garbarino, E; Moscato, Umberto; Chiurazzi, Pietro; D'Iddio, Silvia; Calvani, Menotti; Neri, Giovanni
1-gen-2008 Modest reactivation of the mutatnt FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation. Tabolacci, Elisabetta; De Pascalis, Ivana; Accadia, Maria; Terracciano, Alessandra; Moscato, Umberto; Chiurazzi, Pietro; Neri, Giovanni
1-gen-2007 MRX87 family with Aristales Xdup24bp mutation and implication for polyAlanine expansions. Laperuta, C.; Spizzichino, Letizia; D'Adamo, P.; Monfregola, J.; Maiorino, A.; D'Eustacchio, A.; Ventruto, V.; Neri, Giovanni; D'Urso, M.; Chiurazzi, Pietro; Ursini, M. V.; Miano, M. . G.
1-gen-2007 A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability Zalfa, Francesca; Eleuteri, Boris; S Dickson, Kirsten; Mercaldo, Valentina; De Rubeis, Silvia; di Penta, Alessandra; Tabolacci, Elisabetta; Chiurazzi, Pietro; Neri, Giovanni; N Grant, Seth G; Bagni, Claudia
1-gen-2006 A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family Tabolacci, Elisabetta; Grazia Pomponi, M; Pietrobono, Roberta; Terracciano, Alessandra; Chiurazzi, Pietro; Neri, Giovanni
1-gen-2005 Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments Tabolacci, Elisabetta; Pietrobono, Roberta; Moscato, Umberto; A Oostra, Ben; Chiurazzi, Pietro; Neri, Giovanni
1-gen-2005 Molecular dissection of the events leading to inactivation of the FMR1 gene Pietrobono, Roberta; Tabolacci, Elisabetta; Zalfa, Francesca; Zito, Ilaria; Terracciano, Alessandra; Moscato, Umberto; Bagni, Claudia; Oostra, Ben; Chiurazzi, Pietro; Neri, Giovanni
1-gen-2004 X-linked mental retardation (XLMR): from clinical conditions to cloned genes Chiurazzi, Pietro; Tabolacci, Elisabetta; Neri, Giovanni
1-gen-2004 Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome Chiurazzi, Pietro; Bajer, Jolanta Alina; Tabolacci, Elisabetta; Pomponi, Maria Grazia; Lecce, Rosetta; Zollino, Marcella; Neri, Giovanni
1-gen-2002 Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1gene in fragile X cells treated with 5-aza-deoxycitidine Pietrobono, Roberta; Pomponi, Maria Grazia; Tabolacci, Elisabetta; Oostra, Ben; Chiurazzi, Pietro; Neri, Giovanni
1-gen-1995 DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL Genuardi, M; Bardoni, B; Floridia, G; Chiurazzi, P; Scarano, G; Zollino, M; Garcea, N; Martinineri, M; Neri, G
1-gen-1995 FRAGILE-X SYNDROME - ROUNDER CHROMOSOMES IN ITALY Chiurazzi, Pietro; Genuardi, Maurizio; Kozak, L; L Giovannucci-Uzielli, M; Bussani, C; Dagna-Bricarelli, F; Grasso, M; Perroni, L; Sebastio, G; P Sperandeo, M; A Oostra, B; Neri, G
1-gen-1993 MAPPING OF A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION - EVIDENCE FOR LINKAGE TO CHROMOSOMAL REGION XP21.1-XP22.3 Kozak, L; Chiurazzi, Pietro; Genuardi, Maurizio; Pomponi, Massimiliano; Zollino, Marcella; Neri, G
Mostrati risultati da 41 a 59 di 59
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