CAU, MILENA

CAU, MILENA  

DIPARTIMENTO DI SCIENZE MEDICHE E SANITA' PUBBLICA  

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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 - -