Sfoglia per Autore
Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.
2000-01-01 U. RAMENGHI; CAMPAGNOLI MF; GARELLI E; CARANDO A; BRUSCO A; BAGNARA GP; STRIPPOLI PL; IZZI GC; BRANDALISE S; RICCARDI R; DIANZANI I
Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene.
2003-01-01 Dianzani I; Garelli E; Gustavsson P; Carando A; Gustafsson B; Dahl N; Annerén G.
Anemia di Diamond Blackfan (DBA) : Studio dell’espressione genica.
2004-01-01 QUARELLO P; CAMPAGNOLI MF; GARELLI E; CARANDO A; CRESCENZIO N; DORIA A; MARTINO S; RENGA D; U. RAMENGHI; DIANZANI I
Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature
2004-01-01 CAMPAGNOLI MF; GARELLI E; QUARELLO P; CARANDO A; VAROTTO S; NOBILI B; LONGONI D; PECILE V; ZECCA M; DUFOUR C; RAMENGHI U; DIANZANI I
Search for protein interactors of ribosomal protein S19, mutated in Diamond Blackfan Anemia
2005-01-01 I. DIANZANI; A. CHIOCCHETTI; L. GIBELLO; A. CARANDO; P. SECCO; A. BIAVA; A. ASPESI; U. DIANZANI; U. RAMENGHI; S. ORR; M. ANGELINI; M. CATERINO; M. RUOPPOLO; F. LORENI; C. SANTORO
Somatic mosaicism and variable expressivity in Diamond Blackfan anemia (DBA): a gross deletion involving the 19q13 locus in a patient with transient anemia
2005-01-01 GARELLI E; QUARELLO P; CAMPAGNOLI MF; BRUSCO A; CARANDO A; MENEGATTI E; CRESCENZIO N; FOGLIA L; DIANZANI I; RAMENGHI U
Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein
2005-01-01 CHIOCCHETTI A; GIBELLO L; CARANDO A; ASPESI A; SECCO P; GARELLI E; LORENI F; ANGELINI M; BIAVA A; DAHL N; DIANZANI U; RAMENGHI U; SANTORO C; DIANZANI I
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family
2006-01-01 CAMPAGNOLI MF; PUCCI A; GARELLI E; CARANDO A; DEFILIPPI C; LALA R; INGROSSO G; DIANZANI I; FORNI M; RAMENGHI U
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome
2006-01-01 SORASIO L; FERRERO G; GARELLI E; BRUNELLO G; MARTANO C; CARANDO A; BELLIGNI E; DIANZANI I; CIRILLO SILENGO M
The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients
2006-01-01 CAMPAGNOLI MF; GARBARINI L; QUARELLO P; GARELLI E; CARANDO A; BARAVALLE V; DORIA A; BIAVA A; CHIOCCHETTI A; ROSOLEN A; DUFOUR C; DIANZANI U; RAMENGHI U
RPS19 mutations in patients with Diamond-Blackfan anemia
2008-01-01 Campagnoli MF; Ramenghi U; Armiraglio M; Quarello P; Garelli E; Carando A; Avondo F; Pavesi E; Fribourg S; Gleizes PE; Loreni F; Dianzani I
Multiplex Ligation-dependent Probe Amplification (MLPA) enhances molecular diagnosis of Diamond Blackfan Anemia due to RPS19 deficiency
2008-01-01 Quarello, Paola; Garelli, Emanuela; Brusco, Alfredo; Carando, Adriana; Pappi, Patrizia; Barberis, Marco; Coletti, Valentina; Campagnoli, Maria Francesca; Dianzani, Irma; Ramenghi, Ugo
A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia
2008-01-01 Ilenia Boria; Paola Quarello; Federica Avondo; Emanuela Garelli; Anna Aspesi; Adriana Carando; Maria Francesca Campagnoli; Irma Dianzani; Ugo Ramenghi
Identification of defective Fas function and variation of the perforin gene in an epidermodysplasia verruciformis patient lacking EVER1 and EVER2 mutations
2008-01-01 Zavattaro E; Azzimonti B; Mondini M; De Andrea M; Borgogna C; Dell'Oste V; Ferretti M; Nicola S; Cappellano G; Carando A; Leigheb G; Landolfo S; Dianzani U; Gariglio M.
Le basi genetiche di una ribosomopatia: un database per l'anemia di Diamond-Blackfan
2009-01-01 Boria I; Garelli E; Quarello P; Aspesi A; Carando A; Massano D; Dianzani I; Ramenghi U.
High frequency of RPL5 and RPL11 gene mutation in Italians patients with Diamond-Blackfan anemia (DBA)
2009-01-01 Dianzani I; Ramenghi U; Quarello P; Garelli E; Carando A; Campagnoli MF; Brusco A.
Neutropenie: considerazioni su una casistica monocentrica
2009-01-01 Massano D; Garelli E; Renga D; Lorenzati A; Carando A; Garbarini L; Rivetti E; Vallero S; Parodi E; Ramenghi U.
HDR syndrome: a novel "de novo" mutation in GATA3 gene.
2009-01-01 Ferraris S; Del Monaco AG; Garelli E; Carando A; De Vito B; Pappi P; Lala R; Ponzone A.
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
MUTAZIONI IN PROTEINE RIBOSOMIALI IN PAZIENTI ITALIANI CON ANEMIA DI BLACKFAN DIAMOND
2010-01-01 Quarello P; Garelli E; Carando A; Lorenzati A; Rivetti E; Ansaldi G; Davitto M; Boria I; Aspesi A; Dianzani I; Ramenghi U
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
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
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.
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
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.
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
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
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. | 2000 | U. RAMENGHI; CAMPAGNOLI MF; GARELLI E; CARANDO A; BRUSCO A; BAGNARA GP; STRIPPOLI PL; IZZI GC; BRANDALISE S; RICCARDI R; DIANZANI I | |
| Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene. | 2003 | Dianzani I; Garelli E; Gustavsson P; Carando A; Gustafsson B; Dahl N; Annerén G. | |
| Anemia di Diamond Blackfan (DBA) : Studio dell’espressione genica. | 2004 | QUARELLO P; CAMPAGNOLI MF; GARELLI E; CARANDO A; CRESCENZIO N; DORIA A; MARTINO S; RENGA D; U. RAMENGHI; DIANZANI I | |
| Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature | 2004 | CAMPAGNOLI MF; GARELLI E; QUARELLO P; CARANDO A; VAROTTO S; NOBILI B; LONGONI D; PECILE V; ZECCA M; DUFOUR C; RAMENGHI U; DIANZANI I | |
| Search for protein interactors of ribosomal protein S19, mutated in Diamond Blackfan Anemia | 2005 | I. DIANZANI; A. CHIOCCHETTI; L. GIBELLO; A. CARANDO; P. SECCO; A. BIAVA; A. ASPESI; U. DIANZANI; U. RAMENGHI; S. ORR; M. ANGELINI; M. CATERINO; M. RUOPPOLO; F. LORENI; C. SANTORO | |
| Somatic mosaicism and variable expressivity in Diamond Blackfan anemia (DBA): a gross deletion involving the 19q13 locus in a patient with transient anemia | 2005 | GARELLI E; QUARELLO P; CAMPAGNOLI MF; BRUSCO A; CARANDO A; MENEGATTI E; CRESCENZIO N; FOGLIA L; DIANZANI I; RAMENGHI U | |
| Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein | 2005 | CHIOCCHETTI A; GIBELLO L; CARANDO A; ASPESI A; SECCO P; GARELLI E; LORENI F; ANGELINI M; BIAVA A; DAHL N; DIANZANI U; RAMENGHI U; SANTORO C; DIANZANI I | |
| Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family | 2006 | CAMPAGNOLI MF; PUCCI A; GARELLI E; CARANDO A; DEFILIPPI C; LALA R; INGROSSO G; DIANZANI I; FORNI M; RAMENGHI U | |
| AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome | 2006 | SORASIO L; FERRERO G; GARELLI E; BRUNELLO G; MARTANO C; CARANDO A; BELLIGNI E; DIANZANI I; CIRILLO SILENGO M | |
| The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients | 2006 | CAMPAGNOLI MF; GARBARINI L; QUARELLO P; GARELLI E; CARANDO A; BARAVALLE V; DORIA A; BIAVA A; CHIOCCHETTI A; ROSOLEN A; DUFOUR C; DIANZANI U; RAMENGHI U | |
| RPS19 mutations in patients with Diamond-Blackfan anemia | 2008 | Campagnoli MF; Ramenghi U; Armiraglio M; Quarello P; Garelli E; Carando A; Avondo F; Pavesi E; Fribourg S; Gleizes PE; Loreni F; Dianzani I | |
| Multiplex Ligation-dependent Probe Amplification (MLPA) enhances molecular diagnosis of Diamond Blackfan Anemia due to RPS19 deficiency | 2008 | Quarello, Paola; Garelli, Emanuela; Brusco, Alfredo; Carando, Adriana; Pappi, Patrizia; Barberis, Marco; Coletti, Valentina; Campagnoli, Maria Francesca; Dianzani, Irma; Ramenghi, Ugo | |
| A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia | 2008 | Ilenia Boria; Paola Quarello; Federica Avondo; Emanuela Garelli; Anna Aspesi; Adriana Carando; Maria Francesca Campagnoli; Irma Dianzani; Ugo Ramenghi | |
| Identification of defective Fas function and variation of the perforin gene in an epidermodysplasia verruciformis patient lacking EVER1 and EVER2 mutations | 2008 | Zavattaro E; Azzimonti B; Mondini M; De Andrea M; Borgogna C; Dell'Oste V; Ferretti M; Nicola S; Cappellano G; Carando A; Leigheb G; Landolfo S; Dianzani U; Gariglio M. | |
| Le basi genetiche di una ribosomopatia: un database per l'anemia di Diamond-Blackfan | 2009 | Boria I; Garelli E; Quarello P; Aspesi A; Carando A; Massano D; Dianzani I; Ramenghi U. | |
| High frequency of RPL5 and RPL11 gene mutation in Italians patients with Diamond-Blackfan anemia (DBA) | 2009 | Dianzani I; Ramenghi U; Quarello P; Garelli E; Carando A; Campagnoli MF; Brusco A. | |
| Neutropenie: considerazioni su una casistica monocentrica | 2009 | Massano D; Garelli E; Renga D; Lorenzati A; Carando A; Garbarini L; Rivetti E; Vallero S; Parodi E; Ramenghi U. | |
| HDR syndrome: a novel "de novo" mutation in GATA3 gene. | 2009 | Ferraris S; Del Monaco AG; Garelli E; Carando A; De Vito B; Pappi P; Lala R; Ponzone A. | |
| 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 | |
| MUTAZIONI IN PROTEINE RIBOSOMIALI IN PAZIENTI ITALIANI CON ANEMIA DI BLACKFAN DIAMOND | 2010 | Quarello P; Garelli E; Carando A; Lorenzati A; Rivetti E; Ansaldi G; Davitto M; Boria I; Aspesi A; Dianzani I; Ramenghi U | |
| 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 | |
| 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 | |
| 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. | |
| 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 | |
| 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. | |
| 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 | |
| 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 | |
| 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 |
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