Sfoglia per Autore
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome
2006-01-01 Cau, Milena; Addis, Maria; Congiu, R; Meloni, Cristiana; Cao, A; Santaniello, S; Loi, M; Emma, F; Zuffardi, O; Ciccone, R; Sole, G; Melis, Ma
Analisi molecolare della Sindrome di Lowe
2005-01-01 Addis, Maria; Meloni, Cristiana; Cau, Milena; Congiu, R.; Santaniello, S.; M. A., Melis
Familiare inattivazione non random del cromosoma X
2005-01-01 Cau, Milena; M. A., Melis; R., Congiu; S., Santaniello; Meloni, Cristiana; A., Loi; Addis, Maria
Studio molecolare di una paziente con Sindrome di Lowe dovuta ad una nuova mutazione nel gene OCRL1 e una familiare inattivazione del cromosoma X totalmente sbilanciata
2004-01-01 Cau, Milena; Addis, Maria; Meloni, Cristiana; S., Santaniello; R., Congiu; G., Rizzoni; M. A., Melis
OCRL mutation analysis in Italian patients with Lowe syndrome
2004-01-01 Addis, Maria; Loi, M; Lepiani, C; Cau, Milena; Melis, Ma
Cytogenetic and molecular characterization of a variant translocation associated with acute promyelocytic leukemia and involving chromosomes 11, 15 and 17.
1996-01-01 Casula, L; Archidiacono, N; GRAZIA PAU, M; Addis, Maria; Mura, R; Galanello, R; Biddau, P; Cao, A; Nucaro, A.
Interferon-alpha 2a therapy in CML: disappearance of BCR/ABL transcript in a case of long-lasting continuous cytogenetic conversion
1994-01-01 Pardini, S; Addis, Maria; Dore, F; Bonfigli, S; Nieddu, Rm; Galanello, R; Longinotti, M; Pau, Mg
Repeated PCR in CML during IFN-alpha therapy
1994-01-01 Liberati, Am; Donti, E; Rosso, C; LO COCO, F; Dore, F; Pardini, S; Cocco, S; Addis, Maria; Saglio, G.
HbH disease in Sardinia: molecular, hematological and clinical aspects
1992-01-01 Galanello, R; Aru, B; Dessì, C; Addis, Maria; Paglietti, MARIA ELISABETTA; Melis, Ma; Cocco, S; Massa, P; Giagu, N; Barella, S.
Homozygous non-deletion alpha 2 globin gene mutation (initiation codon mutation): clinical and haematological phenotype
1991-01-01 Galanello, R; Monne, Mi; Paderi, L; Paglietti, MARIA ELISABETTA; Atzori, G; Addis, Maria; Limongelli, O; Macciotta, A; Cao, A.
Molecular basis of beta-thalassemia intermedia in a southern Italian region (Puglia)
1991-01-01 Leoni, Gb; Rosatelli, MARIA CRISTINA; Vitucci, A; Addis, Maria; Loi, A; Tannoia, N; Cao, A.
Molecular analysis of beta zero-thalassemia intermedia in Sardinia
1989-01-01 Galanello, R; Dessi', E; Melis, Ma; Addis, Maria; Sanna, Ma; Rosatelli, MARIA CRISTINA; Argiolu, F; Giagu, N; Turco, Mp; Cacace, Enrico; Pirastu, M; Cao, A.
FIRST TRIMESTER DIAGNOSIS OF B-THALASSEMIA IN A TWIN PREGNANCY.(SHORT COMMUNICATION)
1986-01-01 Monni, G; Rosatelli, MARIA CRISTINA; Falchi, ANGELA MARIA; Scalas, Mt; Addis, Maria; Maccioni, L; DI TUCCI, A; Tuveri, T; Cao, A.
First trimester diagnosis of beta-thalassemia in a twin pregnancy
1986-01-01 Monni, G; Rosatelli, MARIA CRISTINA; Falchi, ANGELA MARIA; Scalas, Mt; Addis, Maria; Maccioni, M; DI TUCCI, A; Tuveri, T; Cao, A.
Control of homozygous beta-thalassemia by carrier screening and antenatal diagnosis in Sardinia
1982-01-01 Cao, A; Furbetta, M; Galanello, R; Melis, Ma; Angius, A; Rosatelli, MARIA CRISTINA; Ruggeri, R; Addis, Maria; Tuveri, T; Falchi, ANGELA MARIA; Maccioni, L; Paglietti, MARIA ELISABETTA; Scalas, Mt
Prevention of homozygous beta-thalassemia by carrier screening and prenatal diagnosis in Sardinia
1981-01-01 Cao, A; Furbetta, M; Galanello, R; Melis, Ma; Angius, A; Ximenes, A; Rosatelli, MARIA CRISTINA; Ruggeri, R; Addis, Maria; Tuveri, T; Falchi, ANGELA MARIA; Paglietti, MARIA ELISABETTA; Scalas, Mt
THALASSEMIA TYPES AND THEIR INCIDENCE IN SARDINIA
1978-01-01 Cao, A; Galanello, R; Furbetta, M; Muroni, Pp; Garbato, L; Rosatelli, MARIA CRISTINA; Scalas, Mt; Addis, Maria; Ruggeri, R; Maccioni, L; Melis, Ma
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome | 1-gen-2006 | Cau, Milena; Addis, Maria; Congiu, R; Meloni, Cristiana; Cao, A; Santaniello, S; Loi, M; Emma, F; Zuffardi, O; Ciccone, R; Sole, G; Melis, Ma | - | - |
| Analisi molecolare della Sindrome di Lowe | 1-gen-2005 | Addis, Maria; Meloni, Cristiana; Cau, Milena; Congiu, R.; Santaniello, S.; M. A., Melis | - | - |
| Familiare inattivazione non random del cromosoma X | 1-gen-2005 | Cau, Milena; M. A., Melis; R., Congiu; S., Santaniello; Meloni, Cristiana; A., Loi; Addis, Maria | - | - |
| Studio molecolare di una paziente con Sindrome di Lowe dovuta ad una nuova mutazione nel gene OCRL1 e una familiare inattivazione del cromosoma X totalmente sbilanciata | 1-gen-2004 | Cau, Milena; Addis, Maria; Meloni, Cristiana; S., Santaniello; R., Congiu; G., Rizzoni; M. A., Melis | - | - |
| OCRL mutation analysis in Italian patients with Lowe syndrome | 1-gen-2004 | Addis, Maria; Loi, M; Lepiani, C; Cau, Milena; Melis, Ma | HUMAN MUTATION | - |
| Cytogenetic and molecular characterization of a variant translocation associated with acute promyelocytic leukemia and involving chromosomes 11, 15 and 17. | 1-gen-1996 | Casula, L; Archidiacono, N; GRAZIA PAU, M; Addis, Maria; Mura, R; Galanello, R; Biddau, P; Cao, A; Nucaro, A. | LEUKEMIA | - |
| Interferon-alpha 2a therapy in CML: disappearance of BCR/ABL transcript in a case of long-lasting continuous cytogenetic conversion | 1-gen-1994 | Pardini, S; Addis, Maria; Dore, F; Bonfigli, S; Nieddu, Rm; Galanello, R; Longinotti, M; Pau, Mg | HAEMATOLOGICA | - |
| Repeated PCR in CML during IFN-alpha therapy | 1-gen-1994 | Liberati, Am; Donti, E; Rosso, C; LO COCO, F; Dore, F; Pardini, S; Cocco, S; Addis, Maria; Saglio, G. | EUROPEAN JOURNAL OF HAEMATOLOGY | - |
| HbH disease in Sardinia: molecular, hematological and clinical aspects | 1-gen-1992 | Galanello, R; Aru, B; Dessì, C; Addis, Maria; Paglietti, MARIA ELISABETTA; Melis, Ma; Cocco, S; Massa, P; Giagu, N; Barella, S. | ACTA HAEMATOLOGICA | - |
| Homozygous non-deletion alpha 2 globin gene mutation (initiation codon mutation): clinical and haematological phenotype | 1-gen-1991 | Galanello, R; Monne, Mi; Paderi, L; Paglietti, MARIA ELISABETTA; Atzori, G; Addis, Maria; Limongelli, O; Macciotta, A; Cao, A. | BRITISH JOURNAL OF HAEMATOLOGY | - |
| Molecular basis of beta-thalassemia intermedia in a southern Italian region (Puglia) | 1-gen-1991 | Leoni, Gb; Rosatelli, MARIA CRISTINA; Vitucci, A; Addis, Maria; Loi, A; Tannoia, N; Cao, A. | ACTA HAEMATOLOGICA | - |
| Molecular analysis of beta zero-thalassemia intermedia in Sardinia | 1-gen-1989 | Galanello, R; Dessi', E; Melis, Ma; Addis, Maria; Sanna, Ma; Rosatelli, MARIA CRISTINA; Argiolu, F; Giagu, N; Turco, Mp; Cacace, Enrico; Pirastu, M; Cao, A. | BLOOD | - |
| FIRST TRIMESTER DIAGNOSIS OF B-THALASSEMIA IN A TWIN PREGNANCY.(SHORT COMMUNICATION) | 1-gen-1986 | Monni, G; Rosatelli, MARIA CRISTINA; Falchi, ANGELA MARIA; Scalas, Mt; Addis, Maria; Maccioni, L; DI TUCCI, A; Tuveri, T; Cao, A. | PRENATAL DIAGNOSIS | - |
| First trimester diagnosis of beta-thalassemia in a twin pregnancy | 1-gen-1986 | Monni, G; Rosatelli, MARIA CRISTINA; Falchi, ANGELA MARIA; Scalas, Mt; Addis, Maria; Maccioni, M; DI TUCCI, A; Tuveri, T; Cao, A. | PRENATAL DIAGNOSIS | - |
| Control of homozygous beta-thalassemia by carrier screening and antenatal diagnosis in Sardinia | 1-gen-1982 | Cao, A; Furbetta, M; Galanello, R; Melis, Ma; Angius, A; Rosatelli, MARIA CRISTINA; Ruggeri, R; Addis, Maria; Tuveri, T; Falchi, ANGELA MARIA; Maccioni, L; Paglietti, MARIA ELISABETTA; Scalas, Mt | BIRTH DEFECTS ORIGINAL ARTICLE SERIES | - |
| Prevention of homozygous beta-thalassemia by carrier screening and prenatal diagnosis in Sardinia | 1-gen-1981 | Cao, A; Furbetta, M; Galanello, R; Melis, Ma; Angius, A; Ximenes, A; Rosatelli, MARIA CRISTINA; Ruggeri, R; Addis, Maria; Tuveri, T; Falchi, ANGELA MARIA; Paglietti, MARIA ELISABETTA; Scalas, Mt | - | - |
| THALASSEMIA TYPES AND THEIR INCIDENCE IN SARDINIA | 1-gen-1978 | Cao, A; Galanello, R; Furbetta, M; Muroni, Pp; Garbato, L; Rosatelli, MARIA CRISTINA; Scalas, Mt; Addis, Maria; Ruggeri, R; Maccioni, L; Melis, Ma | JOURNAL OF MEDICAL GENETICS | - |
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