ADDIS, MARIA
ADDIS, MARIA
DIPARTIMENTO DI SCIENZE MEDICHE E SANITA' PUBBLICA
10. All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding
2008-01-01 Mccrea, Hj; Paradise, S; Tomasini, L; Addis, Maria; Melis, Ma; DE MATTEIS, Ma; DE CAMILLI, P.
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 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
An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes
2013-01-01 Addis, Maria; Meloni, Cristiana; Tosetto, E; Ceol, M; Cristofaro, R; Melis M., A; Vercelloni, P; Del Prete, D; Marra, G; Anglani, F.
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
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.
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome
2015-01-01 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.
Control of homozygous beta-thalassemia by carrier screening and antenatal diagnosis in Sardinia
1982-01-01 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
Cytogenetic and molecular characterization of a variant translocation associated with acute promyelocytic leukemia and involving chromosomes 11, 15 and 17.
1996-01-01 Casula, L; Archidiacono, N; GRAZIA PAU, M; Addis, Maria; Mura, R; Galanello, R; Biddau, P; Cao, A; Nucaro, A.
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
Familiare inattivazione non random del cromosoma X
2005-01-01 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)
1986-01-01 Monni, G; Rosatelli, MARIA CRISTINA; Falchi, ANGELA MARIA; Scalas, Mt; Addis, Maria; Maccioni, L; DI TUCCI, A; Tuveri, T; Cao, A.
First trimester diagnosis of beta-thalassemia in a twin pregnancy
1986-01-01 Monni, G; Rosatelli, MARIA CRISTINA; Falchi, ANGELA MARIA; Scalas, Mt; Addis, Maria; Maccioni, M; DI TUCCI, A; Tuveri, T; Cao, A.
HbH disease in Sardinia: molecular, hematological and clinical aspects
1992-01-01 Galanello, R; Aru, B; Dessì, C; Addis, Maria; Paglietti, MARIA ELISABETTA; Melis, Ma; Cocco, S; Massa, P; Giagu, N; Barella, S.
Homozygous non-deletion alpha 2 globin gene mutation (initiation codon mutation): clinical and haematological phenotype
1991-01-01 Galanello, R; Monne, Mi; Paderi, L; Paglietti, MARIA ELISABETTA; Atzori, G; Addis, Maria; Limongelli, O; Macciotta, A; Cao, A.
Identificazione di una nuova delezione interstiziale Xq25 mediante CGH microarray in un paziente con Sindrome di Lowe
2006-01-01 Addis, Maria; Meloni, Cristiana; R., Congiu; S., Santaniello; F., Emma; O., Zuffardi; R., Ciccone; A., Cao; M. A., Melis; Cau, Milena
| 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 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 | - |
| 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 | - |
| 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 | - | - |
| 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 | - | - |