CAU, MILENA

CAU, MILENA  

DIPARTIMENTO DI SCIENZE MEDICHE E SANITA' PUBBLICA  

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Titolo Data di pubblicazione Autore(i) Rivista Editore
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 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 -
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 - -
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 - -
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 -
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 -