Sfoglia per Autore
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus
2017 Carbonella, Angela; Mancano, Giorgia; Gremese, Elisa; Alkuraya, F. S.; Patel, N.; Gurrieri, Fiorella; Ferraccioli, Gianfranco
Defining the role of the CGGBP1 protein in FMR1 gene expression
2016 Goracci, Martina; Lanni, Stella; Mancano, Giorgia; Palumbo, Federica; Chiurazzi, Pietro; Neri, Giovanni; Tabolacci, Elisabetta
Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells
2016 Tabolacci, Elisabetta; Mancano, Giorgia; Lanni, Stella; Palumbo, Federica; Goracci, Martina; Ferrè, Fabrizio; Helmer Citterich, Manuela; Neri, Giovanni
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome
2015 Cafiero, C; Marangi, Giuseppe; Orteschi, Daniela; Ali, M; Asaro, Alessia; Ponzi, Emanuela; Moncada, Alice; Ricciardi, Stefania; Murdolo, Marina; Mancano, Giorgia; Contaldo, Ilaria; Leuzzi, V; Battaglia, Domenica Immacolata; Mercuri, Eugenio Maria; Slavotinek, Am; Zollino, Marcella
Role of CTCF protein in regulating FMR1 locus transcription.
2013 Lanni, Stella; Goracci, Martina; Borrelli, Loredana; Mancano, Giorgia; Chiurazzi, Pietro; Moscato, Umberto; Ferre', Fabrizio; Helmer_citterich, Manuela; Tabolacci, Elisabetta; Neri, Giovanni
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
2013 Marangi, Giuseppe; Orteschi, Daniela; Milano, Valentina; Mancano, Giorgia; Zollino, Marcella
Cardio-Facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations
2011 Neri, Giovanni; Mancano, Giorgia; Pomponi, Maria Grazia; Ozcelik, A; Gucuyener, K.
| 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 | 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, Ilaria; Leuzzi, V; Battaglia, Domenica Immacolata; Mercuri, Eugenio Maria; Slavotinek, Am; 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-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-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. |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile