Sfoglia per Autore
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
Autoimmune lymphoproliferative syndrome. [Malattia autoimmune linfoproliferativa]
2007-01-01 Ramenghi U; Garbarini L; Alliaudi C; Garelli E; Crescenzio N; Rivetti E; Quarello P; Campagnoli MF.
Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome
2007-01-01 Cerutti E; Campagnoli MF; Ferretti M; Garelli E; Crescenzio N; Rosolen A; Chiocchetti A; Lenardo MJ; Ramenghi U; Dianzani U
Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.
2008-01-01 Ferraris S; Clark S; Garelli E; Davidzon G; Moore SA; Kardon RH; Bienstock RJ; Longley MJ; Mancuso M; Gutiérrez Ríos P; Hirano M; Copeland WC; DiMauro S.
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
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
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy
2008-01-01 VALENZISE M; ARRIGO T; DE LUCA F; PRIVITERA A; FRIGIOLA A; CARANDO A; GARELLI E; SILENGO M
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
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.
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer
2009-01-01 Avondo F; Roncaglia P; Crescenzio N; Krmac H; Garelli E; Armiraglio M; Castagnoli C; Campagnoli MF; Ramenghi U; Gustincich S; Santoro C; Dianzani I
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.
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis and amino acid metabolism
2009-01-01 Dianzani I; Avondo F; Roncaglia P; Krmac H; Crescenzio N; Garelli E; Armiraglio M; Aspesi A; Castagnoli C; Campagnoli MF; Ramenghi U; Gustincich S; Santoro C.
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.
A novel H208D TP63 mutation in a familial case of ectrodactytly-ectodermal dysplasia-cleft lip/palate without clefting
2009-01-01 Sorasio L; Biamino E; Garelli E; Ferrero GB; Silengo MC.
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
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
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| Autoimmune lymphoproliferative syndrome. [Malattia autoimmune linfoproliferativa] | 2007 | Ramenghi U; Garbarini L; Alliaudi C; Garelli E; Crescenzio N; Rivetti E; Quarello P; Campagnoli MF. | |
| Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome | 2007 | Cerutti E; Campagnoli MF; Ferretti M; Garelli E; Crescenzio N; Rosolen A; Chiocchetti A; Lenardo MJ; Ramenghi U; Dianzani U | |
| Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1. | 2008 | Ferraris S; Clark S; Garelli E; Davidzon G; Moore SA; Kardon RH; Bienstock RJ; Longley MJ; Mancuso M; Gutiérrez Ríos P; Hirano M; Copeland WC; DiMauro S. | |
| 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 | |
| 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 | |
| R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy | 2008 | VALENZISE M; ARRIGO T; DE LUCA F; PRIVITERA A; FRIGIOLA A; CARANDO A; GARELLI E; SILENGO M | |
| 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 | |
| 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. | |
| Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer | 2009 | Avondo F; Roncaglia P; Crescenzio N; Krmac H; Garelli E; Armiraglio M; Castagnoli C; Campagnoli MF; Ramenghi U; Gustincich S; Santoro C; Dianzani I | |
| 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. | |
| Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis and amino acid metabolism | 2009 | Dianzani I; Avondo F; Roncaglia P; Krmac H; Crescenzio N; Garelli E; Armiraglio M; Aspesi A; Castagnoli C; Campagnoli MF; Ramenghi U; Gustincich S; Santoro C. | |
| 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. | |
| A novel H208D TP63 mutation in a familial case of ectrodactytly-ectodermal dysplasia-cleft lip/palate without clefting | 2009 | Sorasio L; Biamino E; Garelli E; Ferrero GB; Silengo MC. | |
| 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 | |
| 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 | |
| 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 |
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