FAA', VALERIA
FAA', VALERIA
Istituto di Ricerca Genetica e Biomedica - IRGB
Post-GWAS Validation of Target Genes Associated with HbF and HbA2 Levels
2024 Caria, Cristian Antonio; Faà, Valeria; Porcu, Susanna; Marongiu, Maria Franca; Poddie, Daniela; Perseu, Lucia; Meloni, Alessandra; Vaccargiu, Simona; Ristaldi, Maria Serafina
Delineation of the molecular defects in the AIRE gene in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy patients from Southern Italy
2002 Meloni, A; Perniola, R; Faà, V; Corvaglia, E; Cao, A; Rosatelli, Mc
Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I
1997 Rosatelli, Mc; Meloni, A; Faa', V; Saba, L; Crisponi, G; Clemente, Mg; Meloni, G; Piga, Mt; Cao, A
A promoter mutation, C-->T at position -92, leading to silent beta-thalassaemia.
1995 Rosatelli MC; Faà V; Meloni A; Fiorenza F; Galanello R; Gasperini D; Amendola G; Cao A.
A NOVEL BETA-THALASSEMIA MUTATION - FRAMESHIFT AT CODON-59 DETECTED IN AN ITALIAN CARRIER
1994 Meloni, A; Demurtas, M; Moi, L; Faa, V; Cao, A; Rosatelli, Mc
Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.
1994 Faà, V; Ventruto, Ml; Loche, S; Bozzola, M; Podda, R; Cao, A; Rosatelli, Mc
Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent.
1993 Saba L; Leoni GB; Meloni A; Faà V; Cao A; Rosatelli MC.
A simple electrophoretic procedure for fetal diagnosis of beta-thalassaemia due to short deletions.
1992 Faà, V; Rosatelli, Mc; Sardu, R; Meloni, A; Toffoli, C; Cao, A
Molecular characterization of beta-thalassemia in the Sardinian population.
1992 Rosatelli, Mc; Dozy, A; Faà, V; Meloni, A; Sardu, R; Saba, L; Kan, Yw; Cao, A
Molecular screening and fetal diagnosis of beta-thalassemia in the Italian population
1992 Rosatelli, Mc; Tuveri, T; Scalas, Mt; Leoni, Gb; Sardu, R; Faà, V; Meloni, A; Pischedda, Ma; Demurtas, M; Monni, G; Cao, A
Promoter mutations producing mild beta-thalassaemia in the Italian population
1992 Meloni A; Rosatelli MC; Faà V; Sardu R; Saba L; Murru S; Sciarratta GV; Baldi M; Tannoia N; Vitucci A; Cao A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Post-GWAS Validation of Target Genes Associated with HbF and HbA2 Levels | 1-gen-2024 | Caria, Cristian Antonio; Faà, Valeria; Porcu, Susanna; Marongiu, Maria Franca; Poddie, Daniela; Perseu, Lucia; Meloni, Alessandra; Vaccargiu, Simona; Ristaldi, Maria Serafina | |
| Delineation of the molecular defects in the AIRE gene in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy patients from Southern Italy | 1-gen-2002 | Meloni, A; Perniola, R; Faà, V; Corvaglia, E; Cao, A; Rosatelli, Mc | |
| Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I | 1-gen-1997 | Rosatelli, Mc; Meloni, A; Faa', V; Saba, L; Crisponi, G; Clemente, Mg; Meloni, G; Piga, Mt; Cao, A | |
| A promoter mutation, C-->T at position -92, leading to silent beta-thalassaemia. | 1-gen-1995 | Rosatelli MC; Faà V; Meloni A; Fiorenza F; Galanello R; Gasperini D; Amendola G; Cao A. | |
| A NOVEL BETA-THALASSEMIA MUTATION - FRAMESHIFT AT CODON-59 DETECTED IN AN ITALIAN CARRIER | 1-gen-1994 | Meloni, A; Demurtas, M; Moi, L; Faa, V; Cao, A; Rosatelli, Mc | |
| Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus. | 1-gen-1994 | Faà, V; Ventruto, Ml; Loche, S; Bozzola, M; Podda, R; Cao, A; Rosatelli, Mc | |
| Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent. | 1-gen-1993 | Saba L; Leoni GB; Meloni A; Faà V; Cao A; Rosatelli MC. | |
| A simple electrophoretic procedure for fetal diagnosis of beta-thalassaemia due to short deletions. | 1-gen-1992 | Faà, V; Rosatelli, Mc; Sardu, R; Meloni, A; Toffoli, C; Cao, A | |
| Molecular characterization of beta-thalassemia in the Sardinian population. | 1-gen-1992 | Rosatelli, Mc; Dozy, A; Faà, V; Meloni, A; Sardu, R; Saba, L; Kan, Yw; Cao, A | |
| Molecular screening and fetal diagnosis of beta-thalassemia in the Italian population | 1-gen-1992 | Rosatelli, Mc; Tuveri, T; Scalas, Mt; Leoni, Gb; Sardu, R; Faà, V; Meloni, A; Pischedda, Ma; Demurtas, M; Monni, G; Cao, A | |
| Promoter mutations producing mild beta-thalassaemia in the Italian population | 1-gen-1992 | Meloni A; Rosatelli MC; Faà V; Sardu R; Saba L; Murru S; Sciarratta GV; Baldi M; Tannoia N; Vitucci A; Cao A. |