RAMENGHI, Ugo
RAMENGHI, Ugo
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
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
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
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 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.
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 |
|---|---|---|---|
| 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 | |
| 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 | |
| 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 | |
| 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 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. | |
| 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 |