Sfoglia per Autore
Implications of an Underlying Beckwith–Wiedemann Syndrome for Wilms Tumor Treatment Strategies
2023-01-01 Paola Quarello,Diana Carli, Davide Biasoni, Simona Gerocarni Nappo, Carlo Morosi, Roberta Cotti, Emanuela Garelli, Giulia Zucchetti, Manuela Spadea, Elisa Tirtei, Filippo Spreafico, Franca Fagioli
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
Reduction of CFU-GM and Circulating Hematopoietic Progenitors in a Subgroup of Children With Chronic Neutropenia Associated With Severe Infections and Delayed Recovery
2019-01-01 Fabio Timeus, Nicoletta Crescenzio, Luiselda Foglia, Alessandra Doria, Maria Giuseppina Stillitano, Emanuela Garelli, Raffaela Mazzone, Laura Vivalda, Stefano Vallero, Ugo Ramenghi, Paola Saracco
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation
2019-01-01 Garelli, Emanuela; Quarello, Paola; Giorgio, Elisa; Carando, Adriana; Menegatti, Elisa; Mancini, Cecilia; Di Gregorio, Eleonora; Crescenzio, Nicoletta; Palumbo, Orazio; Carella, Massimo; Dimartino, Paola; Pippucci, Tommaso; Dianzani, Irma; Ramenghi, Ugo; Brusco, Alfredo
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification
2019-01-01 Giorgio, Elisa; Garelli, Emanuela; Carando, Adriana; Bellora, Stefania; Rubino, Elisa; Quarello, Paola; Sirchia, Fabio; Marrama, Federico; Gallone, Salvatore; Grosso, Enrico; Pasini, Barbara; Massa, Roberto; Brussino, Alessandro; Brusco, Alfredo
Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia.
2018-01-01 Marjolijn C J Jongmans , Illja J Diets , Paola Quarello , Emanuela Garelli , Roland P Kuiper , Rolph Pfundt
RPL5 on 1p22.1 is recurrently deleted in multiple myeloma and its expression is linked to bortezomib response
2017-01-01 Hofman, I.J.F; van Duin, M.; de Bruyne, E.; Fancello, L.; Mulligan, G.; Geerdens, E.; Garelli, E.; Mancini, C.; Lemmens, H.; Delforge, M.; Vandenberghe, P.; Wlodarska, I.; Aspesi, A.; Michaux, L.; Vanderkerken, K.; Sonneveld, P.; de Keersmaecker, K.
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia
2016-01-01 Quarello, Paola; Garelli, Emanuela; Carando, Adriana; Mancini, Cecilia; Foglia, Luiselda; Botto, Carlotta; Farruggia, Piero; de Keersmaecker, Kim; Aspesi, Anna; Ellis, Steve R.; Dianzani, Irma; Ramenghi, Ugo
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.
2014-01-01 Parrella S; Aspesi A; Quarello P; Garelli E; Pavesi E; Carando A; Nardi M; Ellis SR; Ramenghi U; Dianzani I.
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis.
2014-01-01 Farrar JE; Quarello P; Fisher R; O'Brien KA; Aspesi A; Parrella S; Henson AL; Seidel NE; Atsidaftos E; Prakash S; Bari S; Garelli E; Arceci RJ; Dianzani I; Ramenghi U; Vlachos A; Lipton JM; Bodine DM; Ellis SR.
The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation
2012-01-01 Farruggia, Piero; Quarello, Paola; Garelli, Emanuela; Paolicchi, Olivia; Ruffo, Giovanni Battista; Cuccia, Liana; Cannella, Sonia; Bruno, Giuseppa; D'Angelo, Paolo
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay
2012-01-01 P. Quarello;E. Garelli;A. Brusco;A. Carando;C. Mancini;P. Pappi;L. Vinti;J. Svahn;I. Dianzani;U. Ramenghi
Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia.
2011-01-01 Varricchio L; Godbold J; Scott SA; Whitsett C; Da Costa L; Pospisilova D; Garelli E; Quarello P; Ramenghi U; Migliaccio AR.
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.
2011-01-01 Prontera P; Garelli E; Isidori I; Mencarelli A; Carando A; Silengo MC; Donti E.
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
2010-01-01 Boria I; Garelli E; Gazda HT; Aspesi A; Quarello P; Pavesi E; Ferrante D; Meerpohl JJ; Kartal M; Da Costa L; Proust A; Leblanc T; Simansour M; Dahl N; Fröjmark AS; Pospisilova D; Cmejla R; Beggs AH; Sheen MR; Landowski M; Buros CM; Clinton CM; Dobson LJ; Vlachos A; Atsidaftos E; Lipton JM; Ellis SR; Ramenghi U; Dianzani I.
UN DATABASE PER L’ANEMIA DI DIAMOND-BLACKFAN
2010-01-01 Boria I; Garelli E; Quarello P;Aspesi A; Carando A; Lorenzati A; Ansaldi G; Davitto M; Dianzani I; Ramenghi U
Remittent hyperammonemia in congenital portosystemic shunt
2010-01-01 Ferrero GB; Porta F; Biamino E; Mussa A; Garelli E; Chiappe F; Veltri A; Silengo MC; Gennari F
Diamond-Blackfan anemia: genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations
2010-01-01 Quarello P; Garelli E; Carando A; Brusco A; Calabrese R; Dufour C; Longoni D; Misuraca A; Vinti L; Aspesi A; Biondini L; Loreni F; Dianzani I; Ramenghi U
Analysis of seven ribosomal protein genes in Italian Diamond Blackfan anemia patients
2010-01-01 Ramenghi U ;Quarello P ;Garelli E ;Carando A;Lorenzati A ;Ansaldi G;Davitto M ;Boria I; Aspesi A ;Dianzani I
ZIC 3 mutation analysis in five familial cases of heterotaxy: identification of a new mutation
2010-01-01 Biamino E; Garelli E; Chiesa N; Sorasio L; Belligni E; Marinosci A;Seri M; Silengo M; Ferrero GB
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Implications of an Underlying Beckwith–Wiedemann Syndrome for Wilms Tumor Treatment Strategies | 2023 | Paola Quarello,Diana Carli, Davide Biasoni, Simona Gerocarni Nappo, Carlo Morosi, Roberta Cotti, Emanuela Garelli, Giulia Zucchetti, Manuela Spadea, Elisa Tirtei, Filippo Spreafico, Franca Fagioli | |
| A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? | 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 | |
| Reduction of CFU-GM and Circulating Hematopoietic Progenitors in a Subgroup of Children With Chronic Neutropenia Associated With Severe Infections and Delayed Recovery | 2019 | Fabio Timeus, Nicoletta Crescenzio, Luiselda Foglia, Alessandra Doria, Maria Giuseppina Stillitano, Emanuela Garelli, Raffaela Mazzone, Laura Vivalda, Stefano Vallero, Ugo Ramenghi, Paola Saracco | |
| Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation | 2019 | Garelli, Emanuela; Quarello, Paola; Giorgio, Elisa; Carando, Adriana; Menegatti, Elisa; Mancini, Cecilia; Di Gregorio, Eleonora; Crescenzio, Nicoletta; Palumbo, Orazio; Carella, Massimo; Dimartino, Paola; Pippucci, Tommaso; Dianzani, Irma; Ramenghi, Ugo; Brusco, Alfredo | |
| Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification | 2019 | Giorgio, Elisa; Garelli, Emanuela; Carando, Adriana; Bellora, Stefania; Rubino, Elisa; Quarello, Paola; Sirchia, Fabio; Marrama, Federico; Gallone, Salvatore; Grosso, Enrico; Pasini, Barbara; Massa, Roberto; Brussino, Alessandro; Brusco, Alfredo | |
| Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia. | 2018 | Marjolijn C J Jongmans , Illja J Diets , Paola Quarello , Emanuela Garelli , Roland P Kuiper , Rolph Pfundt | |
| RPL5 on 1p22.1 is recurrently deleted in multiple myeloma and its expression is linked to bortezomib response | 2017 | Hofman, I.J.F; van Duin, M.; de Bruyne, E.; Fancello, L.; Mulligan, G.; Geerdens, E.; Garelli, E.; Mancini, C.; Lemmens, H.; Delforge, M.; Vandenberghe, P.; Wlodarska, I.; Aspesi, A.; Michaux, L.; Vanderkerken, K.; Sonneveld, P.; de Keersmaecker, K. | |
| Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia | 2016 | Quarello, Paola; Garelli, Emanuela; Carando, Adriana; Mancini, Cecilia; Foglia, Luiselda; Botto, Carlotta; Farruggia, Piero; de Keersmaecker, Kim; Aspesi, Anna; Ellis, Steve R.; Dianzani, Irma; Ramenghi, Ugo | |
| Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. | 2014 | Parrella S; Aspesi A; Quarello P; Garelli E; Pavesi E; Carando A; Nardi M; Ellis SR; Ramenghi U; Dianzani I. | |
| Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. | 2014 | Farrar JE; Quarello P; Fisher R; O'Brien KA; Aspesi A; Parrella S; Henson AL; Seidel NE; Atsidaftos E; Prakash S; Bari S; Garelli E; Arceci RJ; Dianzani I; Ramenghi U; Vlachos A; Lipton JM; Bodine DM; Ellis SR. | |
| The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation | 2012 | Farruggia, Piero; Quarello, Paola; Garelli, Emanuela; Paolicchi, Olivia; Ruffo, Giovanni Battista; Cuccia, Liana; Cannella, Sonia; Bruno, Giuseppa; D'Angelo, Paolo | |
| High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay | 2012 | P. Quarello;E. Garelli;A. Brusco;A. Carando;C. Mancini;P. Pappi;L. Vinti;J. Svahn;I. Dianzani;U. Ramenghi | |
| Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia. | 2011 | Varricchio L; Godbold J; Scott SA; Whitsett C; Da Costa L; Pospisilova D; Garelli E; Quarello P; Ramenghi U; Migliaccio AR. | |
| Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome. | 2011 | Prontera P; Garelli E; Isidori I; Mencarelli A; Carando A; Silengo MC; Donti E. | |
| The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. | 2010 | Boria I; Garelli E; Gazda HT; Aspesi A; Quarello P; Pavesi E; Ferrante D; Meerpohl JJ; Kartal M; Da Costa L; Proust A; Leblanc T; Simansour M; Dahl N; Fröjmark AS; Pospisilova D; Cmejla R; Beggs AH; Sheen MR; Landowski M; Buros CM; Clinton CM; Dobson LJ; Vlachos A; Atsidaftos E; Lipton JM; Ellis SR; Ramenghi U; Dianzani I. | |
| UN DATABASE PER L’ANEMIA DI DIAMOND-BLACKFAN | 2010 | Boria I; Garelli E; Quarello P;Aspesi A; Carando A; Lorenzati A; Ansaldi G; Davitto M; Dianzani I; Ramenghi U | |
| Remittent hyperammonemia in congenital portosystemic shunt | 2010 | Ferrero GB; Porta F; Biamino E; Mussa A; Garelli E; Chiappe F; Veltri A; Silengo MC; Gennari F | |
| Diamond-Blackfan anemia: genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations | 2010 | Quarello P; Garelli E; Carando A; Brusco A; Calabrese R; Dufour C; Longoni D; Misuraca A; Vinti L; Aspesi A; Biondini L; Loreni F; Dianzani I; Ramenghi U | |
| Analysis of seven ribosomal protein genes in Italian Diamond Blackfan anemia patients | 2010 | Ramenghi U ;Quarello P ;Garelli E ;Carando A;Lorenzati A ;Ansaldi G;Davitto M ;Boria I; Aspesi A ;Dianzani I | |
| ZIC 3 mutation analysis in five familial cases of heterotaxy: identification of a new mutation | 2010 | Biamino E; Garelli E; Chiesa N; Sorasio L; Belligni E; Marinosci A;Seri M; Silengo M; Ferrero GB |
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