CAU, MILENA
CAU, MILENA
DIPARTIMENTO DI SCIENZE MEDICHE E SANITA' PUBBLICA
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
The V736A TMPRSS6 polymorphism influences liver iron concentration in non-transfusion-dependent thalassemias
2015-01-01 Cau, Milena; Danjou, Fabrice; Chessa, Roberta; Serrenti, Marianna; Addis, Maria; Barella, Susanna; Origa, Raffaella
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.
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
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.
Responsiveness to oral iron and ascorbic acid in a patient with IRIDA
2012-01-01 Cau, Milena; Galanello, Renzo; Giagu, N; Melis, MARIA ANTONIETTA
Triplet-Primed PCR Is More Sensitive Than Southern Blotting-Long PCR for the Diagnosis of Myotonic Dystrophy Type1
2012-01-01 Addis, Maria; Serrenti, Marianna; Meloni, Cristiana; Cau, Milena; Melis, M. A.
. “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.
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
Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia
2010-01-01 LE GAC, G; Congiu, R; Gourlaouen, I; Cau, Milena; Férec, C; Melis, Ma
Iron-deficiency anemia secondary to mutations in genes controlling hepcidin
2010-01-01 Cau, Milena; MARIA ANTONIETTA, Melis; Rita, Congiu; Renzo, Galanello
Mutazioni del gene TMPRSS6 associate a IR
2010-01-01 Cau, Milena; Cazzola, M; Congiu, R; Meloni, Cristiana; Serrenti, M; Melis, M. 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
La mutazione del gene KRIT-1 è prevalente nei pazienti con CCM (Malformazioni Cerebrali Cavernose)
2009-01-01 Cau, Milena; M., Serrenti; M., Loi; M., Melis; R., Congiu; Meloni, Cristiana; A., Loi; M. A., Melis
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.
Thalassaemia and glucose-6-phosphate dehydrogenase screening in 13- to 14-year-old students of the Sardinian population: preliminary findings
2008-01-01 Cao, A; Congiu, R; Sollaino, Mc; Desogus, Mf; Demartis, Fr; Loi, D; Cau, Milena; Galanello, R.
Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3)
2008-01-01 Nucaro, Al; Melis, P; Casini, Mr; Rossino, Rossano; Cau, Milena; Melis, Ma; Loche, S.
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
Studio del gene KRIT-1 in famiglie sarde con malformazioni cerebrali cavernose
2007-01-01 Cau, Milena; Addis, Maria; M., Loi; R., Congiu; Meloni, Cristiana; A., Loi; M. A., Melis
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
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| 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 | - |
| The V736A TMPRSS6 polymorphism influences liver iron concentration in non-transfusion-dependent thalassemias | 1-gen-2015 | Cau, Milena; Danjou, Fabrice; Chessa, Roberta; Serrenti, Marianna; Addis, Maria; Barella, Susanna; Origa, Raffaella | AMERICAN JOURNAL OF HEMATOLOGY | - |
| 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 | - |
| 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 | - |
| 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. | - | - |
| Responsiveness to oral iron and ascorbic acid in a patient with IRIDA | 1-gen-2012 | Cau, Milena; Galanello, Renzo; Giagu, N; Melis, MARIA ANTONIETTA | BLOOD CELLS, MOLECULES, & DISEASES | - |
| Triplet-Primed PCR Is More Sensitive Than Southern Blotting-Long PCR for the Diagnosis of Myotonic Dystrophy Type1 | 1-gen-2012 | Addis, Maria; Serrenti, Marianna; Meloni, Cristiana; Cau, Milena; Melis, M. A. | GENETIC TESTING AND MOLECULAR BIOMARKERS | - |
| . “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. | - | - |
| 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 | - | - |
| Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia | 1-gen-2010 | LE GAC, G; Congiu, R; Gourlaouen, I; Cau, Milena; Férec, C; Melis, Ma | HAEMATOLOGICA | - |
| Iron-deficiency anemia secondary to mutations in genes controlling hepcidin | 1-gen-2010 | Cau, Milena; MARIA ANTONIETTA, Melis; Rita, Congiu; Renzo, Galanello | EXPERT REVIEW OF HEMATOLOGY | - |
| Mutazioni del gene TMPRSS6 associate a IR | 1-gen-2010 | Cau, Milena; Cazzola, M; Congiu, R; Meloni, Cristiana; Serrenti, M; Melis, M. A. | - | - |
| 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 | - |
| La mutazione del gene KRIT-1 è prevalente nei pazienti con CCM (Malformazioni Cerebrali Cavernose) | 1-gen-2009 | Cau, Milena; M., Serrenti; M., Loi; M., Melis; R., Congiu; Meloni, Cristiana; A., Loi; M. A., Melis | - | - |
| 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 | - |
| Thalassaemia and glucose-6-phosphate dehydrogenase screening in 13- to 14-year-old students of the Sardinian population: preliminary findings | 1-gen-2008 | Cao, A; Congiu, R; Sollaino, Mc; Desogus, Mf; Demartis, Fr; Loi, D; Cau, Milena; Galanello, R. | COMMUNITY GENETICS | - |
| Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3) | 1-gen-2008 | Nucaro, Al; Melis, P; Casini, Mr; Rossino, Rossano; Cau, Milena; Melis, Ma; Loche, S. | JOURNAL OF APPLIED GENETICS | - |
| 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 | - |
| Studio del gene KRIT-1 in famiglie sarde con malformazioni cerebrali cavernose | 1-gen-2007 | Cau, Milena; Addis, Maria; M., Loi; R., Congiu; Meloni, Cristiana; A., Loi; M. A., Melis | - | - |
| 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 | - | - |