Mancano, Giorgia

Mancano, Giorgia  

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Data di pubblicazione Titolo Autore(i) File
1-gen-2017 An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus Carbonella, Angela; Mancano, Giorgia; Gremese, Elisa; Alkuraya, F. S.; Patel, N.; Gurrieri, Fiorella; Ferraccioli, Gianfranco
1-gen-2016 Defining the role of the CGGBP1 protein in FMR1 gene expression Goracci, Martina; Lanni, Stella; Mancano, Giorgia; Palumbo, Federica; Chiurazzi, Pietro; Neri, Giovanni; Tabolacci, Elisabetta
1-gen-2016 Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells Tabolacci, Elisabetta; Mancano, Giorgia; Lanni, Stella; Palumbo, Federica; Goracci, Martina; Ferrè, Fabrizio; Helmer Citterich, Manuela; Neri, Giovanni
1-gen-2015 Defining the role of the CGGBP1 protein in FMR1 gene expression. Tabolacci, Elisabetta; Goracci, Martina; Lanni, Stella; Mancano, Giorgia; Palumbo, Federica; Chiurazzi, Pietro; Neri, Giovanni
1-gen-2015 Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome Cafiero, C; Marangi, Giuseppe; Orteschi, Daniela; Ali, M; Asaro, Alessia; Ponzi, Emanuela; Moncada, Alice; Ricciardi, Stefania; Murdolo, Marina; Mancano, Giorgia; Contaldo, I; Leuzzi, V; Battaglia, Domenica Immacolata; Mercuri, E; Slavotinek, Am; Zollino, Marcella
1-gen-2013 Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: a co-morbidity model with additional copy number variations in a large family Marangi, Giuseppe; Orteschi, Daniela; Milano, Valentina; Mancano, Giorgia; Zollino, Marcella
1-gen-2013 Role of CTCF protein in regulating FMR1 locus transcription. Lanni, Stella; Goracci, Martina; Borrelli, Loredana; Mancano, Giorgia; Chiurazzi, Pietro; Moscato, Umberto; Ferre', Fabrizio; Helmer_citterich, Manuela; Tabolacci, Elisabetta; Neri, Giovanni
1-gen-2011 Cardio-Facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations Neri, Giovanni; Mancano, Giorgia; Pomponi, Maria Grazia; Ozcelik, A; Gucuyener, K.