DIANZANI, Irma
DIANZANI, Irma
Dipartimento di Scienze della Salute
2 NEW MUTATIONS IN THE DIHYDROPTERIDINE REDUCTASE GENE IN PATIENTS WITH TETRAHYDROBIOPTERIN DEFICIENCY
1993-01-01 Dianzani, Irma; Howells, Dw; Ponzone, A; Saleeba, Ja; Smooker, Pm; Cotton, Rgh
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 European multicenter study of phenylalanine hydroxylase deficiency: Classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype
1998-01-01 Guldberg, P; Rey, F; Zschocke, J; Romano, V; Francois, B; Michiels, L; Ullrich, K; Hoffmann, Gf; Burgard, P; Schmidt, H; Meli, C; Riva, E; Dianzani, Irma; Ponzone, A; Rey, J; Guttler, F.
A FREQUENT ECORI POLYMORPHISM IN THE BCL-2 GENE
1993-01-01 Ghia, P; Dianzani, Irma; Serra, A; Rosso, C; Caligariscapio, F.
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
A genome-wide association study for malignant mesothelioma risk.
2013-01-01 G., Cadby; S., Mukherjee; A. W., Bill; A., Reid; M., Garlepp; I., Dick; C., Robinson; J., Hui; G., Fiorito; S., Guarrera; J., Beilby; P. E., Melton; E. K., Moses; D., Ugolini; D., Mirabelli; S., Bonassi; Magnani, Corrado; Dianzani, Irma; G., Matullo; B., Robinson; J., Creaney; L. J., Palmer
A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation
2015-01-01 Clemente, Nausicaa; Boggio, Elena; Gigliotti, CASIMIRO LUCA; Orilieri, E.; Cappellano, G.; Toth, E.; ALUFFI VALLETTI, Paolo; Santoro, Claudio Ventura; Quinti, I.; Pignata, C.; Notarangelo, L. D.; Dianzani, C.; Dianzani, Irma; Ramenghi, U.; Dianzani, Umberto; Chiocchetti, Annalisa
A New Database For Ribosomal Protein Genes Which Are Mutated In Diamond-Blackfan Anemia
2008-01-01 Boria, I; Quarello, P; Avondo, F; Garelli, E; Aspesi, Anna; Carando, A; Campagnoli, Mf; Dianzani, Irma; Ramenghi, U.
A new method for investigating microbiota-produced small molecules in adenomatous polyps
2021-01-01 Barberis, E.; Joseph, S.; Amede, E.; Clavenna, M. G.; La Vecchia, M.; Sculco, M.; Aspesi, A.; Occhipinti, P.; Robotti, E.; Boldorini, R.; Marengo, E.; Dianzani, I.; Manfredi, M.
A NEWLY-CHARACTERIZED ALPHA-THALASSEMIA-1 DELETION REMOVES THE ENTIRE ALPHA-LIKE GLOBIN GENE-CLUSTER IN AN ITALIAN FAMILY
1991-01-01 Fortina, P; Dianzani, Irma; Serra, A; Gottardi, E; Saglio, G; Farinasso, L; Piga, A; Gabutti, V; Camaschella, C.
A Series of Mutations in the Dihydropteridine Reductase Gene resulting in either RNA splicing or DHPR protein defects
1999-01-01 P. M., Smooker; T. J., Gough; R. G. H., Cotton; C., Alliaudi; L., DE SANCTIS; Dianzani, Irma
A spontaneous mutation causing unstable Hb Hammersmith: detection of the beta 42 TTT----TCT change by CCM and direct sequencing
1991-01-01 Dianzani, Irma; Ramus, S; Cotton, Rg; Camaschella, C.
ABNORMALITIES OF SODIUM-TRANSPORT BY SODIUM, POTASSIUM-ACTIVATED ADENOSINE-TRIPHOSPHATASE IN ERYTHROCYTES FROM OBESE CHILDREN
1988-01-01 Dianzani, Irma; Boero, R; Guarena, C; Urbino, A; Corda, G; Ouarello, F; Cerutti, F.
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome
2006-01-01 Sorasio, L; Ferrero, Gb; Garelli, E; Brunello, G; Martano, C; Carando, A; Belligni, E; Dianzani, Irma; Silengo, Mc
Alteration of heme metabolism in a cellular model of Diamond-Blackfan anemia
2015-01-01 Mercurio, Sonia; Aspesi, Anna; Silengo, Lorenzo; Altruda, Fiorella; Dianzani, Irma; Chiabrando, Deborah
An overview of the genetic structure within the Italian population from genome-wide data.
2012-01-01 Di Gaetano, C; Voglino, F; Guarrera, S; Fiorito, G; Rosa, F; Di Blasio, Am; Manzini, P; Dianzani, Irma; Betti, Marta; Cusi, D; Frau, F; Barlassina, C; Mirabelli, D; Magnani, Corrado; Glorioso, N; Bonassi, S; Piazza, A; Matullo, G.
Analysis of NAT2 genotypes as risk factors for asbestos related malignant mesothelioma (MM) in a general population study
2006-01-01 Betti, M.; Biava, A.; Bertolotti, M.; Ferrante, Daniela; Mirabelli, D.; Magnani, Corrado; Dianzani, Irma
Analysis of potential genetic risk factors for the development of malignant mesothelioma caused by asbestos exposure
2003-01-01 Dianzani, Irma; Gibello, L; Biava, A; Tamiazzo, S; Bertolotti, M; Mirabelli, D; Magnani, Corrado
ANALYSIS OF SEQUENCE CONTEXTS FLANKING T-CENTER-DOT-G MISMATCHES LEADS TO PREDICTIONS ABOUT REACTIVITY OF THE MISMATCHED T TO OSMIUM-TETROXIDE
1993-01-01 Cotton, Rgh; Dahl, Hhm; Forrest, S; Howells, Dw; Ramus, Sj; Bishop, Re; Dianzani, Irma; Saleeba, Ja; Palombo, E; Anderson, Mj; Milner, Cm; Campbell, Rd
Analysis of Telomeres in Peripheral Blood Cells From Patients With Bone Marrow Failure
2009-01-01 Pavesi, Elisa; Avondo, F; Aspesi, Anna; Quarello, P; Rocci, A; Vimercati, C; Pigullo, S; Dufour, C; Ramenghi, U; Dianzani, Irma
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 2 NEW MUTATIONS IN THE DIHYDROPTERIDINE REDUCTASE GENE IN PATIENTS WITH TETRAHYDROBIOPTERIN DEFICIENCY | 1-gen-1993 | Dianzani, Irma; Howells, Dw; Ponzone, A; Saleeba, Ja; Smooker, Pm; Cotton, Rgh | |
| 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 European multicenter study of phenylalanine hydroxylase deficiency: Classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype | 1-gen-1998 | Guldberg, P; Rey, F; Zschocke, J; Romano, V; Francois, B; Michiels, L; Ullrich, K; Hoffmann, Gf; Burgard, P; Schmidt, H; Meli, C; Riva, E; Dianzani, Irma; Ponzone, A; Rey, J; Guttler, F. | |
| A FREQUENT ECORI POLYMORPHISM IN THE BCL-2 GENE | 1-gen-1993 | Ghia, P; Dianzani, Irma; Serra, A; Rosso, C; Caligariscapio, F. | |
| 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 | |
| A genome-wide association study for malignant mesothelioma risk. | 1-gen-2013 | G., Cadby; S., Mukherjee; A. W., Bill; A., Reid; M., Garlepp; I., Dick; C., Robinson; J., Hui; G., Fiorito; S., Guarrera; J., Beilby; P. E., Melton; E. K., Moses; D., Ugolini; D., Mirabelli; S., Bonassi; Magnani, Corrado; Dianzani, Irma; G., Matullo; B., Robinson; J., Creaney; L. J., Palmer | |
| A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation | 1-gen-2015 | Clemente, Nausicaa; Boggio, Elena; Gigliotti, CASIMIRO LUCA; Orilieri, E.; Cappellano, G.; Toth, E.; ALUFFI VALLETTI, Paolo; Santoro, Claudio Ventura; Quinti, I.; Pignata, C.; Notarangelo, L. D.; Dianzani, C.; Dianzani, Irma; Ramenghi, U.; Dianzani, Umberto; Chiocchetti, Annalisa | |
| A New Database For Ribosomal Protein Genes Which Are Mutated In Diamond-Blackfan Anemia | 1-gen-2008 | Boria, I; Quarello, P; Avondo, F; Garelli, E; Aspesi, Anna; Carando, A; Campagnoli, Mf; Dianzani, Irma; Ramenghi, U. | |
| A new method for investigating microbiota-produced small molecules in adenomatous polyps | 1-gen-2021 | Barberis, E.; Joseph, S.; Amede, E.; Clavenna, M. G.; La Vecchia, M.; Sculco, M.; Aspesi, A.; Occhipinti, P.; Robotti, E.; Boldorini, R.; Marengo, E.; Dianzani, I.; Manfredi, M. | |
| A NEWLY-CHARACTERIZED ALPHA-THALASSEMIA-1 DELETION REMOVES THE ENTIRE ALPHA-LIKE GLOBIN GENE-CLUSTER IN AN ITALIAN FAMILY | 1-gen-1991 | Fortina, P; Dianzani, Irma; Serra, A; Gottardi, E; Saglio, G; Farinasso, L; Piga, A; Gabutti, V; Camaschella, C. | |
| A Series of Mutations in the Dihydropteridine Reductase Gene resulting in either RNA splicing or DHPR protein defects | 1-gen-1999 | P. M., Smooker; T. J., Gough; R. G. H., Cotton; C., Alliaudi; L., DE SANCTIS; Dianzani, Irma | |
| A spontaneous mutation causing unstable Hb Hammersmith: detection of the beta 42 TTT----TCT change by CCM and direct sequencing | 1-gen-1991 | Dianzani, Irma; Ramus, S; Cotton, Rg; Camaschella, C. | |
| ABNORMALITIES OF SODIUM-TRANSPORT BY SODIUM, POTASSIUM-ACTIVATED ADENOSINE-TRIPHOSPHATASE IN ERYTHROCYTES FROM OBESE CHILDREN | 1-gen-1988 | Dianzani, Irma; Boero, R; Guarena, C; Urbino, A; Corda, G; Ouarello, F; Cerutti, F. | |
| AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome | 1-gen-2006 | Sorasio, L; Ferrero, Gb; Garelli, E; Brunello, G; Martano, C; Carando, A; Belligni, E; Dianzani, Irma; Silengo, Mc | |
| Alteration of heme metabolism in a cellular model of Diamond-Blackfan anemia | 1-gen-2015 | Mercurio, Sonia; Aspesi, Anna; Silengo, Lorenzo; Altruda, Fiorella; Dianzani, Irma; Chiabrando, Deborah | |
| An overview of the genetic structure within the Italian population from genome-wide data. | 1-gen-2012 | Di Gaetano, C; Voglino, F; Guarrera, S; Fiorito, G; Rosa, F; Di Blasio, Am; Manzini, P; Dianzani, Irma; Betti, Marta; Cusi, D; Frau, F; Barlassina, C; Mirabelli, D; Magnani, Corrado; Glorioso, N; Bonassi, S; Piazza, A; Matullo, G. | |
| Analysis of NAT2 genotypes as risk factors for asbestos related malignant mesothelioma (MM) in a general population study | 1-gen-2006 | Betti, M.; Biava, A.; Bertolotti, M.; Ferrante, Daniela; Mirabelli, D.; Magnani, Corrado; Dianzani, Irma | |
| Analysis of potential genetic risk factors for the development of malignant mesothelioma caused by asbestos exposure | 1-gen-2003 | Dianzani, Irma; Gibello, L; Biava, A; Tamiazzo, S; Bertolotti, M; Mirabelli, D; Magnani, Corrado | |
| ANALYSIS OF SEQUENCE CONTEXTS FLANKING T-CENTER-DOT-G MISMATCHES LEADS TO PREDICTIONS ABOUT REACTIVITY OF THE MISMATCHED T TO OSMIUM-TETROXIDE | 1-gen-1993 | Cotton, Rgh; Dahl, Hhm; Forrest, S; Howells, Dw; Ramus, Sj; Bishop, Re; Dianzani, Irma; Saleeba, Ja; Palombo, E; Anderson, Mj; Milner, Cm; Campbell, Rd | |
| Analysis of Telomeres in Peripheral Blood Cells From Patients With Bone Marrow Failure | 1-gen-2009 | Pavesi, Elisa; Avondo, F; Aspesi, Anna; Quarello, P; Rocci, A; Vimercati, C; Pigullo, S; Dufour, C; Ramenghi, U; Dianzani, Irma |