CAU, MILENA
CAU, MILENA
DIPARTIMENTO DI SCIENZE MEDICHE E SANITA' PUBBLICA
. “Variazioni al locus IL28B in pazienti sardi con talassemia major HCV positivi”
2011-01-01 Satta, Stefania; Marceddu, G.; Perseu, L.; Danjou, Fabrice; De Martis, F. R.; Balzarini, M.; Follesa, I.; Cau, Milena; Lai, E. e. Galanello R.
31. Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier
1992-01-01 Muntoni, F; Mateddu, A; Marrosu, MARIA GIOVANNA; Cau, Milena; Congiu, R; Melis, Ma; Cao, A; Cianchetti, C.
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
A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron
2008-01-01 Melis, Ma; Cau, Milena; Congiu, R; Sole, G; Barella, S; Cao, A; Westerman, M; Cazzola, M; Galanello, R.
A new deletion in 5’-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers
2012-01-01 Cau, Milena; Boccone, L; Mateddu, A; Addis, Maria; Serrenti, Marianna; Chessa, Roberta; Marrosu, G; Loudianos, G; Melis, Ma
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome
2007-01-01 Addis, Maria; Meloni, Cristiana; Congiu, R; Santaniello, S; Emma, F; Zuffardi, O; Ciccone, R; Cao, A; Melis, Ma; Cau, Milena
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.
Analisi molecolare del gene OCRL1: la nostra esperienza di 10 anni di attività diagnostica
2012-01-01 Addis, Maria; Meloni, Cristiana; Cau, Milena; Serrenti, M; Congiu, R; Loi, A; Chessa, R; Melis, M. A.
Analisi molecolare della Sindrome di Lowe
2005-01-01 Addis, Maria; Meloni, Cristiana; Cau, Milena; Congiu, R.; Santaniello, S.; M. A., Melis
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.
C329X in KRIT1 is a founder mutation among CCM patients in Sardinia
2009-01-01 Cau, Milena; Loi, M; Melis, M; Congiu, R; Loi, A; Meloni, Cristiana; Serrenti, Marianna; Addis, Maria; Melis, Ma
Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene.
2014-01-01 Melis, M; Cau, Milena; Corraine, S; Secci, S; Addis, Maria; Melis, M.
Danon disease in a Sardinian family: different aspects of the same mutation-a case report
2023-01-01 Pasqualucci, Daniele; Maiani, Silvia; Perra, Ferdinando; Cau, Milena; Coiana, Alessandra; Bianco, Paola; Olivotto, Iacopo; Corda, Marco
Diagnosi Molecolare mediante TP-PCR in pazienti Sardi affetti da DM1
2011-01-01 Serrenti, M; Meloni, Cristiana; Cau, Milena; Loi, A; Melis M., A; Addis, Maria
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
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
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.
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.
Eterogeneità molecolare delle emoglobinopatie e del difetto di G6PD in Sardegna
2006-01-01 R., Congiu; M. C., Sollaino; D., Loi; Anni, Franco; M. F., Desogus; F. R., Demartis; Cau, Milena; R., Galanello
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| . “Variazioni al locus IL28B in pazienti sardi con talassemia major HCV positivi” | 1-gen-2011 | Satta, Stefania; Marceddu, G.; Perseu, L.; Danjou, Fabrice; De Martis, F. R.; Balzarini, M.; Follesa, I.; Cau, Milena; Lai, E. e. Galanello R. | - | - |
| 31. Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier | 1-gen-1992 | Muntoni, F; Mateddu, A; Marrosu, MARIA GIOVANNA; Cau, Milena; Congiu, R; Melis, Ma; Cao, A; Cianchetti, C. | CLINICAL GENETICS | - |
| 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 | - | - |
| A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron | 1-gen-2008 | Melis, Ma; Cau, Milena; Congiu, R; Sole, G; Barella, S; Cao, A; Westerman, M; Cazzola, M; Galanello, R. | HAEMATOLOGICA | - |
| A new deletion in 5’-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers | 1-gen-2012 | Cau, Milena; Boccone, L; Mateddu, A; Addis, Maria; Serrenti, Marianna; Chessa, Roberta; Marrosu, G; Loudianos, G; Melis, Ma | GENE | - |
| A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome | 1-gen-2007 | Addis, Maria; Meloni, Cristiana; Congiu, R; Santaniello, S; Emma, F; Zuffardi, O; Ciccone, R; Cao, A; Melis, Ma; Cau, Milena | EUROPEAN JOURNAL OF MEDICAL GENETICS | - |
| 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 | - |
| Analisi molecolare del gene OCRL1: la nostra esperienza di 10 anni di attività diagnostica | 1-gen-2012 | Addis, Maria; Meloni, Cristiana; Cau, Milena; Serrenti, M; Congiu, R; Loi, A; Chessa, R; Melis, M. A. | - | - |
| Analisi molecolare della Sindrome di Lowe | 1-gen-2005 | Addis, Maria; Meloni, Cristiana; Cau, Milena; Congiu, R.; Santaniello, S.; M. A., Melis | - | - |
| 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 | - |
| C329X in KRIT1 is a founder mutation among CCM patients in Sardinia | 1-gen-2009 | Cau, Milena; Loi, M; Melis, M; Congiu, R; Loi, A; Meloni, Cristiana; Serrenti, Marianna; Addis, Maria; Melis, Ma | EUROPEAN JOURNAL OF MEDICAL GENETICS | - |
| Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene. | 1-gen-2014 | Melis, M; Cau, Milena; Corraine, S; Secci, S; Addis, Maria; Melis, M. | CEREBROVASCULAR DISEASES | - |
| Danon disease in a Sardinian family: different aspects of the same mutation-a case report | 1-gen-2023 | Pasqualucci, Daniele; Maiani, Silvia; Perra, Ferdinando; Cau, Milena; Coiana, Alessandra; Bianco, Paola; Olivotto, Iacopo; Corda, Marco | EUROPEAN HEART JOURNAL. CASE REPORTS | - |
| Diagnosi Molecolare mediante TP-PCR in pazienti Sardi affetti da DM1 | 1-gen-2011 | Serrenti, M; Meloni, Cristiana; Cau, Milena; Loi, A; Melis M., A; Addis, Maria | - | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| Eterogeneità molecolare delle emoglobinopatie e del difetto di G6PD in Sardegna | 1-gen-2006 | R., Congiu; M. C., Sollaino; D., Loi; Anni, Franco; M. F., Desogus; F. R., Demartis; Cau, Milena; R., Galanello | - | - |