Sfoglia per Autore
Identificazione di una nuova delezione interstiziale Xq25 mediante CGH microarray in un paziente con Sindrome di Lowe
2006-01-01 Addis, Maria; Meloni, Cristiana; R., Congiu; S., Santaniello; F., Emma; O., Zuffardi; R., Ciccone; A., Cao; M. A., Melis; Cau, Milena
A locus for familial skewed X chromosome inactivatio maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome
2006-01-01 Cau, Milena; Addis, Maria; R., Congiu; Meloni, Cristiana; A., Cao; S., Santaniello; M., Loi; F., Emma; O., Zuffardi; R., Ciccone; G., Sole; M. A., Melis
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
New case of contiguous gene syndrome at chromosome 8p11.2p12
2005-01-01 Cau, Milena; Congiu, R; Origa, Raffaella; Galanello, R; Melis, Ma; Nucaro, Al
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
Frequency of hemochromatosis C282Y and H63D mutations in Sardinia
2002-01-01 Melis, Ma; Cau, Milena; Congiu, R; Ruvoletto, L; Cao, A; Galanello, R.
H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers
2002-01-01 Melis, Ma; Cau, Milena; Deidda, F; Barella, S; Cao, A; Galanello, R.
Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families
1998-01-01 Melis, Ma; Cau, Milena; Muntoni, F; Mateddu, A; Galanello, R; Boccone, L; Deidda, F; Loi, D; Cao, A.
Two novel mutations (10410 T-->G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation. Mutations in brief no. 149. Online
1998-01-01 Cau, Milena; Cao, A; Loi, D; Puddu, A; Muntoni, F; Mateddu, A; Melis, Ma
Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy
1998-01-01 Melis, Ma; Muntoni, F; Cau, Milena; Loi, D; Puddu, A; Boccone, L; Mateddu, A; Cianchetti, C; Cao, A.
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy
1997-01-01 Muntoni, F; DI LENARDA, A; Porcu, M; Sinagra, G; Mateddu, A; Marrosu, G; Ferlini, A; Cau, Milena; Milasin, J; Melis, Ma; Marrosu, MARIA GIOVANNA; Cianchetti, C; Sanna, A; Falaschi, A; Camerini, F; Giacca, M; Mestroni, L.
A report on 528 intragenic deletions detected in DMD and BMD patients by an Italian collaborative study
1994-01-01 Mioni, F; Danieli, Ga; Cao, A; Cau, Milena; COLONNA ROMANO, S; Covone, Ae; DE LEONARDIS, P; DE LEO, R; Esposito, Mg; Felicetti, L.
Identification of a novel T-insertion polymorphism at the DMD locus
1993-01-01 Muntoni, F; Cau, Milena; Congiu, R; Congia, M; Cao, A; Melis, Ma
Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy
1993-01-01 Muntoni, F; Mateddu, A; Cianchetti, C; Marrosu, MARIA GIOVANNA; Clerk, A; Cau, Milena; Congiu, R; Cao, A; Melis, Ma
Diagnosis of DMD carrier status in a family with no known affected males
1993-01-01 Muntoni, F; Mateddu, A; Cau, Milena; Congiu, R; Puddu, R; Cossu, P; Cao, A; Melis, Ma
Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling
1993-01-01 Melis, Ma; Cau, Milena; Congiu, R; Puddu, R; Muntoni, F; Cao, A.
Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy
1993-01-01 Muntoni, F; Cau, Milena; Ganau, A; Congiu, R; Arvedi, G; Mateddu, A; Marrosu, MARIA GIOVANNA; Cianchetti, C; Realdi, G; Cao, A.
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| Identificazione di una nuova delezione interstiziale Xq25 mediante CGH microarray in un paziente con Sindrome di Lowe | 1-gen-2006 | Addis, Maria; Meloni, Cristiana; R., Congiu; S., Santaniello; F., Emma; O., Zuffardi; R., Ciccone; A., Cao; M. A., Melis; Cau, Milena | - | - |
| A locus for familial skewed X chromosome inactivatio maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome | 1-gen-2006 | Cau, Milena; Addis, Maria; R., Congiu; Meloni, Cristiana; A., Cao; S., Santaniello; M., Loi; F., Emma; O., Zuffardi; R., Ciccone; G., Sole; M. A., Melis | - | - |
| 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 | - | - |
| New case of contiguous gene syndrome at chromosome 8p11.2p12 | 1-gen-2005 | Cau, Milena; Congiu, R; Origa, Raffaella; Galanello, R; Melis, Ma; Nucaro, Al | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - |
| 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 | - |
| Frequency of hemochromatosis C282Y and H63D mutations in Sardinia | 1-gen-2002 | Melis, Ma; Cau, Milena; Congiu, R; Ruvoletto, L; Cao, A; Galanello, R. | GENETIC TESTING | - |
| H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers | 1-gen-2002 | Melis, Ma; Cau, Milena; Deidda, F; Barella, S; Cao, A; Galanello, R. | HAEMATOLOGICA | - |
| Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families | 1-gen-1998 | Melis, Ma; Cau, Milena; Muntoni, F; Mateddu, A; Galanello, R; Boccone, L; Deidda, F; Loi, D; Cao, A. | EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY | - |
| Two novel mutations (10410 T-->G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation. Mutations in brief no. 149. Online | 1-gen-1998 | Cau, Milena; Cao, A; Loi, D; Puddu, A; Muntoni, F; Mateddu, A; Melis, Ma | HUMAN MUTATION | - |
| Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy | 1-gen-1998 | Melis, Ma; Muntoni, F; Cau, Milena; Loi, D; Puddu, A; Boccone, L; Mateddu, A; Cianchetti, C; Cao, A. | HUMAN MUTATION | - |
| Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy | 1-gen-1997 | Muntoni, F; DI LENARDA, A; Porcu, M; Sinagra, G; Mateddu, A; Marrosu, G; Ferlini, A; Cau, Milena; Milasin, J; Melis, Ma; Marrosu, MARIA GIOVANNA; Cianchetti, C; Sanna, A; Falaschi, A; Camerini, F; Giacca, M; Mestroni, L. | HEART | - |
| A report on 528 intragenic deletions detected in DMD and BMD patients by an Italian collaborative study | 1-gen-1994 | Mioni, F; Danieli, Ga; Cao, A; Cau, Milena; COLONNA ROMANO, S; Covone, Ae; DE LEONARDIS, P; DE LEO, R; Esposito, Mg; Felicetti, L. | GENE GEOGRAPHY | - |
| Identification of a novel T-insertion polymorphism at the DMD locus | 1-gen-1993 | Muntoni, F; Cau, Milena; Congiu, R; Congia, M; Cao, A; Melis, Ma | HUMAN GENETICS | - |
| Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy | 1-gen-1993 | Muntoni, F; Mateddu, A; Cianchetti, C; Marrosu, MARIA GIOVANNA; Clerk, A; Cau, Milena; Congiu, R; Cao, A; Melis, Ma | JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY | - |
| Diagnosis of DMD carrier status in a family with no known affected males | 1-gen-1993 | Muntoni, F; Mateddu, A; Cau, Milena; Congiu, R; Puddu, R; Cossu, P; Cao, A; Melis, Ma | DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY | - |
| Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling | 1-gen-1993 | Melis, Ma; Cau, Milena; Congiu, R; Puddu, R; Muntoni, F; Cao, A. | CLINICAL GENETICS | - |
| Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy | 1-gen-1993 | Muntoni, F; Cau, Milena; Ganau, A; Congiu, R; Arvedi, G; Mateddu, A; Marrosu, MARIA GIOVANNA; Cianchetti, C; Realdi, G; Cao, A. | NEW ENGLAND JOURNAL OF MEDICINE | - |
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