ESPOSITO, GABRIELLA
ESPOSITO, GABRIELLA
DIPARTIMENTO DI MEDICINA MOLECOLARE E BIOTECNOLOGIE MEDICHE
Rapid identification of beta-globin gene cluster mutations by a variety of PCR based procedures
1996 Esposito, Gabriella; Grosso, Michela; G., Rescigno; V., Quarantiello; P., Matrella; P., Izzo; F., Salvatore
Detection of beta-thalassemia mutations using the multiplex amplification refractory mutation system (MARMS) and the denaturing gradient gel electrophoresis (DGGE)
1994 Grosso, Michela; Esposito, Gabriella; G., Rescigno; V., Quarantiello; P., Matrella; P., Izzo; F., Salvatore
A study of aldolase B gene in patients with hereditary fructose intolerance
1991 Santamaria, Rita; Esposito, Gabriella; L., Chiandetti; P., Izzo; F., Salvatore
A novel mutation in RP1 is a major cause of autosomal dominant retinitis pigmentosa in Southern Italy.
2013 Esposito, Gabriella; D'Argenio, Valeria; Guerri, G; Sauchelli, G; Boccia, Angelo; Tandurella, Icm; D’Antonio, M; DE FALCO, Francesca; Paolella, Giovanni; Salvatore, Francesco
Identification of two mutation within the transglutaminase 1 gene patients with lamellar ichthyosis.
1997 Esposito, Gabriella; Rescigno, G.; Auricchio, Luigi; Salvatore, Francesco; Izzo, Paola
Knockdown of the BBS10 Gene Product Affects Apical Targeting of AQP2 in Renal Cells: A Possible Explanation for the Polyuria Associated with Bardet-Biedl Syndrome
2014 Miriam, Zacchia; Esposito, Gabriella; Monica, Carmosino; Claudia, Barbieri; Enza, Zacchia; Alessia Anna, Crispo; Tiziana, Fioretti; Francesco, Trepiccione; Valentina Di, Iorio; Francesca, Simonelli; Salvatore, Francesco; Giovambattista, Capasso; Maria, Svelto; Giuseppe, Procino
Regulation of the aldolase C gene expression and studies of the aldolase B molecular alterations causing hereditary fructose intolerance
2003 F., Salvatore; Esposito, Gabriella; P., Buono
A sporadic case of hemophilia A detected by RFLP analysis
1991 Santamaria, R.; Costanzo, P.; Esposito, Gabriella; DE CATERINA, M.; Salvatore, F.; Izzo, P.
Diagnosi molecolare e prenatale di coroideremia
2007 Esposito, Gabriella
BBS1, BBS10 and BBS2 are major causative genes for Bardet-Biedl syndrome in Italian patients.
2013 D’Antonio, M; Esposito, Gabriella; Tandurella, Icm; Crispo, A; Simonelli, F; Di Iorio, V; Salvatore, Francesco
14-3-3 θ over-expression increases both the cytosolic amount of AF4 and the expression levels of its target genes.
2011 T., Fioretti; Cevenini, Armando; V., Sica; Esposito, Gabriella; Salvatore, Francesco
14-3-3 theta, a direct interactor of AF4, influences HOXA9 expression in RS4;11 leukemia cell line.
2013 Esposito, Gabriella; Fioretti, T; Cevenini, Armando; Cembrola, Bm; DE FALCO, Francesca; Salvatore, Francesco
From protein-protein interaction studies new potential therapeutic targets to treat the MLL-related acute lymphoblastic leukemias
2012 Esposito, Gabriella
A sporadic case of hemophilia A detected by RFLP analysis
1991 Santamaria, Rita; Costanzo, P.; Esposito, Gabriella; DE CATERINA, M.; Salvatore, F.; Izzo, Paola
A 15-year case-mix experience for fragile X syndrome molecular diagnosis and comparison between conventional and alternative techniques leading to a novel diagnostic procedure.
2013 Esposito, Gabriella; R., Ruggiero; G., Savarese; M., Savarese; Mr, Tremolaterra; Salvatore, Francesco; Carsana, Antonella
The molecular basis of hereditary fructose intolerance in italian children
1993 Santamaria, Rita; Scarano, M. I.; Esposito, Gabriella; Chiandetti, L.; Izzo, Paola; Salvatore, F.
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal.
2013 Esposito, Gabriella; De Falco, F; Neri, I; Graziano, C; Toschi, B; Auricchio, Luigi; Gouveia, C; Sousa, Ab; Salvatore, F.
Lamellar ichthyosis and arthrogryposis in a premature neonate
2015 Chiara De, Leonibus; Claudio, Lembo; Alfredo, Santantonio; Tiziana, Fioretti; Silvana, Rojo; Francesco, Salvatore; Massimiliano De, Vivo; Esposito, Gabriella; Paolo, Giliberti
A unique origin for the Sicilian (__)°-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis.
1994 Esposito, Gabriella; Grosso, Michela; Gottardi, E.; Izzo, Paola; Camaschella, C.; Salvatore, F.
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance
2002 Esposito, Gabriella; L., Vitagliano; Santamaria, Rita; A., Viola; A., Zagari; F., Salvatore
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Rapid identification of beta-globin gene cluster mutations by a variety of PCR based procedures | 1.1 Articolo in rivista | 1996 | Esposito, Gabriella; Grosso, Michela; G., Rescigno; V., Quarantiello; P., Matrella; P., Izzo; F., Salvatore | |
| Detection of beta-thalassemia mutations using the multiplex amplification refractory mutation system (MARMS) and the denaturing gradient gel electrophoresis (DGGE) | 1.1 Articolo in rivista | 1994 | Grosso, Michela; Esposito, Gabriella; G., Rescigno; V., Quarantiello; P., Matrella; P., Izzo; F., Salvatore | |
| A study of aldolase B gene in patients with hereditary fructose intolerance | 1.1 Articolo in rivista | 1991 | Santamaria, Rita; Esposito, Gabriella; L., Chiandetti; P., Izzo; F., Salvatore | |
| A novel mutation in RP1 is a major cause of autosomal dominant retinitis pigmentosa in Southern Italy. | 4.2 Abstract in Atti di convegno | 2013 | Esposito, Gabriella; D'Argenio, Valeria; Guerri, G; Sauchelli, G; Boccia, Angelo; Tandurella, Icm; D’Antonio, M; DE FALCO, Francesca; Paolella, Giovanni; Salvatore, Francesco | |
| Identification of two mutation within the transglutaminase 1 gene patients with lamellar ichthyosis. | 4.1 Articoli in Atti di convegno | 1997 | Esposito, Gabriella; Rescigno, G.; Auricchio, Luigi; Salvatore, Francesco; Izzo, Paola | |
| Knockdown of the BBS10 Gene Product Affects Apical Targeting of AQP2 in Renal Cells: A Possible Explanation for the Polyuria Associated with Bardet-Biedl Syndrome | 1.1 Articolo in rivista | 2014 | Miriam, Zacchia; Esposito, Gabriella; Monica, Carmosino; Claudia, Barbieri; Enza, Zacchia; Alessia Anna, Crispo; Tiziana, Fioretti; Francesco, Trepiccione; Valentina Di, Iorio; Francesca, Simonelli; Salvatore, Francesco; Giovambattista, Capasso; Maria, Svelto; Giuseppe, Procino | |
| Regulation of the aldolase C gene expression and studies of the aldolase B molecular alterations causing hereditary fructose intolerance | 1.1 Articolo in rivista | 2003 | F., Salvatore; Esposito, Gabriella; P., Buono | |
| A sporadic case of hemophilia A detected by RFLP analysis | 1.1 Articolo in rivista | 1991 | Santamaria, R.; Costanzo, P.; Esposito, Gabriella; DE CATERINA, M.; Salvatore, F.; Izzo, P. | |
| Diagnosi molecolare e prenatale di coroideremia | 8.02 Comunicazioni a Convegni o Seminari | 2007 | Esposito, Gabriella | |
| BBS1, BBS10 and BBS2 are major causative genes for Bardet-Biedl syndrome in Italian patients. | 4.2 Abstract in Atti di convegno | 2013 | D’Antonio, M; Esposito, Gabriella; Tandurella, Icm; Crispo, A; Simonelli, F; Di Iorio, V; Salvatore, Francesco | |
| 14-3-3 θ over-expression increases both the cytosolic amount of AF4 and the expression levels of its target genes. | 4.1 Articoli in Atti di convegno | 2011 | T., Fioretti; Cevenini, Armando; V., Sica; Esposito, Gabriella; Salvatore, Francesco | |
| 14-3-3 theta, a direct interactor of AF4, influences HOXA9 expression in RS4;11 leukemia cell line. | 4.2 Abstract in Atti di convegno | 2013 | Esposito, Gabriella; Fioretti, T; Cevenini, Armando; Cembrola, Bm; DE FALCO, Francesca; Salvatore, Francesco | |
| From protein-protein interaction studies new potential therapeutic targets to treat the MLL-related acute lymphoblastic leukemias | 8.07 Progetti di Ricerca Finanziati | 2012 | Esposito, Gabriella | |
| A sporadic case of hemophilia A detected by RFLP analysis | 1.1 Articolo in rivista | 1991 | Santamaria, Rita; Costanzo, P.; Esposito, Gabriella; DE CATERINA, M.; Salvatore, F.; Izzo, Paola | |
| A 15-year case-mix experience for fragile X syndrome molecular diagnosis and comparison between conventional and alternative techniques leading to a novel diagnostic procedure. | 1.1 Articolo in rivista | 2013 | Esposito, Gabriella; R., Ruggiero; G., Savarese; M., Savarese; Mr, Tremolaterra; Salvatore, Francesco; Carsana, Antonella | |
| The molecular basis of hereditary fructose intolerance in italian children | 1.1 Articolo in rivista | 1993 | Santamaria, Rita; Scarano, M. I.; Esposito, Gabriella; Chiandetti, L.; Izzo, Paola; Salvatore, F. | |
| Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal. | 1.1 Articolo in rivista | 2013 | Esposito, Gabriella; De Falco, F; Neri, I; Graziano, C; Toschi, B; Auricchio, Luigi; Gouveia, C; Sousa, Ab; Salvatore, F. | |
| Lamellar ichthyosis and arthrogryposis in a premature neonate | 1.1 Articolo in rivista | 2015 | Chiara De, Leonibus; Claudio, Lembo; Alfredo, Santantonio; Tiziana, Fioretti; Silvana, Rojo; Francesco, Salvatore; Massimiliano De, Vivo; Esposito, Gabriella; Paolo, Giliberti | |
| A unique origin for the Sicilian (__)°-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis. | 1.1 Articolo in rivista | 1994 | Esposito, Gabriella; Grosso, Michela; Gottardi, E.; Izzo, Paola; Camaschella, C.; Salvatore, F. | |
| Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance | 1.1 Articolo in rivista | 2002 | Esposito, Gabriella; L., Vitagliano; Santamaria, Rita; A., Viola; A., Zagari; F., Salvatore |