Sfoglia per Autore RAMENGHI, Ugo
The Glucocorticoid Receptor Polymorphism Landscape in Patients With Diamond Blackfan Anemia Reveals an Association Between Two Clinically Relevant Single Nucleotide Polymorphisms and Time to Diagnosis
2021-01-01 Lonetti, A.; Indio, V.; Dianzani, I.; Ramenghi, U.; Da Costa, L.; Pospisilova, D.; Migliaccio, A. R.
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?
2020-01-01 Quarello, Paola; Garelli, Emanuela; Carando, Adriana; Cillario, Rebecca; Brusco, Alfredo; Giorgio, Elisa; Ferrante, Daniela; Corti, Paola; Zecca, Marco; Luciani, Matteo; Pierri, Filomena; Putti, Maria C; Cantarini, Maria E; Farruggia, Piero; Barone, Angelica; Cesaro, Simone; Russo, Giovanna; Fagioli, Franca; Dianzani, Irma; Ramenghi, Ugo
Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registry
2018-01-01 Vlachos, Adrianna; Osorio, Diana S; Atsidaftos, Evangelia; Kang, Jessica; Lababidi, Mohammad Lutfi; Seiden, Howard S; Gruber, Dorota; Glader, Bertil E; Onel, Kenan; Farrar, Jason E; Bodine, David M; Aspesi, Anna; Dianzani, Irma; Ramenghi, Ugo; Ellis, Steven Robert; Lipton, Jeffrey M
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond–Blackfan anemia
2018-01-01 Aspesi, Anna; Betti, Marta; Sculco, Marika; Actis, Chiara; Olgasi, Cristina; Wlodarski, Marcin W.; Vlachos, Adrianna; Lipton, Jeffrey M.; Ramenghi, Ugo; Santoro, Claudio; Follenzi, Antonia; Ellis, Steven R.; Dianzani, Irma
Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy
2017-01-01 Aspesi, Anna; Monteleone, Valentina; Betti, Marta; Actis, Chiara; Morleo, Giulia; Sculco, Marika; Guarrera, Simonetta; Wlodarski, Marcin W.; Ramenghi, Ugo; Santoro, Claudio; Ellis, Steven R.; Loreni, Fabrizio; Follenzi, Antonia; Dianzani, Irma
The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update
2010-01-01 Boria, I.; Garelli, E.; Gazda, H. T.; Aspesi, Anna; Quarello, P.; Pavesi, Elisa; Ferrante, Daniela; Meerpohl, J. J.; Kartal, M.; Da Costa, L.; Proust, A.; Leblanc, T.; Simansour, M.; Dahl, N.; Fröjmark, A. S.; Pospisilova, D.; Cmejla, R.; Beggs, A. H.; Sheen, M. R.; Landowski, M.; Buros, C.; Clinton, C.; Dobson, L.; Vlachos, A.; Atsidaftos, E.; Lipton, J. M.; Ellis, S. R.; Ramenghi, Ugo; Dianzani, Irma
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| The Glucocorticoid Receptor Polymorphism Landscape in Patients With Diamond Blackfan Anemia Reveals an Association Between Two Clinically Relevant Single Nucleotide Polymorphisms and Time to Diagnosis | 1-gen-2021 | Lonetti, A.; Indio, V.; Dianzani, I.; Ramenghi, U.; Da Costa, L.; Pospisilova, D.; Migliaccio, A. R. | |
| A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? | 1-gen-2020 | Quarello, Paola; Garelli, Emanuela; Carando, Adriana; Cillario, Rebecca; Brusco, Alfredo; Giorgio, Elisa; Ferrante, Daniela; Corti, Paola; Zecca, Marco; Luciani, Matteo; Pierri, Filomena; Putti, Maria C; Cantarini, Maria E; Farruggia, Piero; Barone, Angelica; Cesaro, Simone; Russo, Giovanna; Fagioli, Franca; Dianzani, Irma; Ramenghi, Ugo | |
| Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registry | 1-gen-2018 | Vlachos, Adrianna; Osorio, Diana S; Atsidaftos, Evangelia; Kang, Jessica; Lababidi, Mohammad Lutfi; Seiden, Howard S; Gruber, Dorota; Glader, Bertil E; Onel, Kenan; Farrar, Jason E; Bodine, David M; Aspesi, Anna; Dianzani, Irma; Ramenghi, Ugo; Ellis, Steven Robert; Lipton, Jeffrey M | |
| A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond–Blackfan anemia | 1-gen-2018 | Aspesi, Anna; Betti, Marta; Sculco, Marika; Actis, Chiara; Olgasi, Cristina; Wlodarski, Marcin W.; Vlachos, Adrianna; Lipton, Jeffrey M.; Ramenghi, Ugo; Santoro, Claudio; Follenzi, Antonia; Ellis, Steven R.; Dianzani, Irma | |
| Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy | 1-gen-2017 | Aspesi, Anna; Monteleone, Valentina; Betti, Marta; Actis, Chiara; Morleo, Giulia; Sculco, Marika; Guarrera, Simonetta; Wlodarski, Marcin W.; Ramenghi, Ugo; Santoro, Claudio; Ellis, Steven R.; Loreni, Fabrizio; Follenzi, Antonia; Dianzani, Irma | |
| The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update | 1-gen-2010 | Boria, I.; Garelli, E.; Gazda, H. T.; Aspesi, Anna; Quarello, P.; Pavesi, Elisa; Ferrante, Daniela; Meerpohl, J. J.; Kartal, M.; Da Costa, L.; Proust, A.; Leblanc, T.; Simansour, M.; Dahl, N.; Fröjmark, A. S.; Pospisilova, D.; Cmejla, R.; Beggs, A. H.; Sheen, M. R.; Landowski, M.; Buros, C.; Clinton, C.; Dobson, L.; Vlachos, A.; Atsidaftos, E.; Lipton, J. M.; Ellis, S. R.; Ramenghi, Ugo; Dianzani, Irma |
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