ADDIS, MARIA

ADDIS, MARIA  

DIPARTIMENTO DI SCIENZE MEDICHE E SANITA' PUBBLICA  

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Titolo Data di pubblicazione Autore(i) Rivista Editore
10. All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding 1-gen-2008 Mccrea, Hj; Paradise, S; Tomasini, L; Addis, Maria; Melis, Ma; DE MATTEIS, Ma; DE CAMILLI, P. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS -
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 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 -
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 - -
An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes 1-gen-2013 Addis, Maria; Meloni, Cristiana; Tosetto, E; Ceol, M; Cristofaro, R; Melis M., A; Vercelloni, P; Del Prete, D; Marra, G; Anglani, F. EUROPEAN JOURNAL OF HUMAN GENETICS -
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 -
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome 1-gen-2015 Recker, F; Zaniew, M; Böckenhauer, D; Miglietti, N; Bökenkamp, A; Moczulska, A; Rogowska Kalisz, A; Laube, G; Said Conti, V; Kasap Demir, B; Niemirska, A; Litwin, M; Siteń, G; Chrzanowska, Kh; Krajewska Walasek, M; Sethi, Sk; Tasic, V; Anglani, F; Addis, Maria; Wasilewska, A; Szczepańska, M; Pawlaczyk, K; Sikora, P; Ludwig, M. PEDIATRIC NEPHROLOGY -
Control of homozygous beta-thalassemia by carrier screening and antenatal diagnosis in Sardinia 1-gen-1982 Cao, A; Furbetta, M; Galanello, R; Melis, Ma; Angius, A; Rosatelli, MARIA CRISTINA; Ruggeri, R; Addis, Maria; Tuveri, T; Falchi, ANGELA MARIA; Maccioni, L; Paglietti, MARIA ELISABETTA; Scalas, Mt BIRTH DEFECTS ORIGINAL ARTICLE SERIES -
Cytogenetic and molecular characterization of a variant translocation associated with acute promyelocytic leukemia and involving chromosomes 11, 15 and 17. 1-gen-1996 Casula, L; Archidiacono, N; GRAZIA PAU, M; Addis, Maria; Mura, R; Galanello, R; Biddau, P; Cao, A; Nucaro, A. LEUKEMIA -
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 - -
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 - -
FIRST TRIMESTER DIAGNOSIS OF B-THALASSEMIA IN A TWIN PREGNANCY.(SHORT COMMUNICATION) 1-gen-1986 Monni, G; Rosatelli, MARIA CRISTINA; Falchi, ANGELA MARIA; Scalas, Mt; Addis, Maria; Maccioni, L; DI TUCCI, A; Tuveri, T; Cao, A. PRENATAL DIAGNOSIS -
First trimester diagnosis of beta-thalassemia in a twin pregnancy 1-gen-1986 Monni, G; Rosatelli, MARIA CRISTINA; Falchi, ANGELA MARIA; Scalas, Mt; Addis, Maria; Maccioni, M; DI TUCCI, A; Tuveri, T; Cao, A. PRENATAL DIAGNOSIS -
HbH disease in Sardinia: molecular, hematological and clinical aspects 1-gen-1992 Galanello, R; Aru, B; Dessì, C; Addis, Maria; Paglietti, MARIA ELISABETTA; Melis, Ma; Cocco, S; Massa, P; Giagu, N; Barella, S. ACTA HAEMATOLOGICA -
Homozygous non-deletion alpha 2 globin gene mutation (initiation codon mutation): clinical and haematological phenotype 1-gen-1991 Galanello, R; Monne, Mi; Paderi, L; Paglietti, MARIA ELISABETTA; Atzori, G; Addis, Maria; Limongelli, O; Macciotta, A; Cao, A. BRITISH JOURNAL OF HAEMATOLOGY -
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 - -
Interferon-alpha 2a therapy in CML: disappearance of BCR/ABL transcript in a case of long-lasting continuous cytogenetic conversion 1-gen-1994 Pardini, S; Addis, Maria; Dore, F; Bonfigli, S; Nieddu, Rm; Galanello, R; Longinotti, M; Pau, Mg HAEMATOLOGICA -