ADDIS, MARIA
ADDIS, MARIA
DIPARTIMENTO DI SCIENZE MEDICHE E SANITA' PUBBLICA
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.
Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations
2015-01-01 Anglani, F; D'Angelo, A; Bertizzolo, Lm; Tosetto, E; Ceol, M; Cremasco, D; Bonfante, L; Addis, Maria; Del Prete, D; Ghiggeri, Gm; Barbano, G; Emma, F; Vergine, G; Vezzoli, G; Cara, M; Ripanti, G; Ammenti, A; Peruzzi, L; Colussi, G; Giordano, M; Caruso, Mr; Ratsch, Im; Marra, G; Paglialonga, F; La Manna, A.
Presentazione di un caso clinico con Sindrome di Lowe diagnosticato con array-CGH
2015-01-01 Pirola, Bm; Castiello, A; Patricelli, Mg; Russo Raucci, A; Natali Sora, Mg; Zambon, A; Addis, Maria; Meloni, Cristiana; Ferrari, M.
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.
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.
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.
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.
Un fenotipo atipico di malattia di Dent causato dalla co-ereditarietà di mutazioni presenti nei geni CLCN5 e OCRL1
2012-01-01 Addis, Maria; Meloni, Cristiana; Tosetto, E; Ceol, M; Cristofaro, R; Melis M., A; Vercelloni, P; Del Prete, D; Marra, G; Anglani, F.
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
Mutazioni del gene OCRL1 in pazienti con malattia di Dent2
2010-01-01 Addis, Maria; Meloni, Cristiana; M., Serrenti; A., Loi; 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
Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations
2009-01-01 Tosetto, E; Addis, Maria; Caridi, G; Meloni, Cristiana; Emma, F; Vergine, G; Stringini, G; Papalia, T; Barbano, G; Ghiggeri, Gm; Ruggeri, L; Miglietti, N; D., ANGELO A; Melis, Ma; Anglani, F.
Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions
2009-01-01 Ruggieri, M; Roggini, M; Spalice, A; Addis, Maria; Iannetti, P.
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 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
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
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| 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 | - |
| Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations | 1-gen-2015 | Anglani, F; D'Angelo, A; Bertizzolo, Lm; Tosetto, E; Ceol, M; Cremasco, D; Bonfante, L; Addis, Maria; Del Prete, D; Ghiggeri, Gm; Barbano, G; Emma, F; Vergine, G; Vezzoli, G; Cara, M; Ripanti, G; Ammenti, A; Peruzzi, L; Colussi, G; Giordano, M; Caruso, Mr; Ratsch, Im; Marra, G; Paglialonga, F; La Manna, A. | SPRINGERPLUS | - |
| Presentazione di un caso clinico con Sindrome di Lowe diagnosticato con array-CGH | 1-gen-2015 | Pirola, Bm; Castiello, A; Patricelli, Mg; Russo Raucci, A; Natali Sora, Mg; Zambon, A; Addis, Maria; Meloni, Cristiana; Ferrari, M. | - | - |
| 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 | - |
| 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 | - |
| 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. | - | - |
| 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 | - |
| Un fenotipo atipico di malattia di Dent causato dalla co-ereditarietà di mutazioni presenti nei geni CLCN5 e OCRL1 | 1-gen-2012 | Addis, Maria; Meloni, Cristiana; Tosetto, E; Ceol, M; Cristofaro, R; Melis M., A; Vercelloni, P; Del Prete, D; Marra, G; Anglani, F. | - | - |
| 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 | - | - |
| Mutazioni del gene OCRL1 in pazienti con malattia di Dent2 | 1-gen-2010 | Addis, Maria; Meloni, Cristiana; M., Serrenti; A., Loi; 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 | - |
| Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations | 1-gen-2009 | Tosetto, E; Addis, Maria; Caridi, G; Meloni, Cristiana; Emma, F; Vergine, G; Stringini, G; Papalia, T; Barbano, G; Ghiggeri, Gm; Ruggeri, L; Miglietti, N; D., ANGELO A; Melis, Ma; Anglani, F. | PEDIATRIC NEPHROLOGY | - |
| Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions | 1-gen-2009 | Ruggieri, M; Roggini, M; Spalice, A; Addis, Maria; Iannetti, P. | PEDIATRIC NEUROLOGY | - |
| 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 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 | - | - |
| 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 | - | - |