ROSATELLI, MARIA CRISTINA
ROSATELLI, MARIA CRISTINA
DIPARTIMENTO DI SCIENZE MEDICHE E SANITA' PUBBLICA
"A synonimous mutation in the CFTR gene causes an aberrant splicing in an Italian patients effected by Cystic Fibrosis"
2009-01-01 V., Faà; Coiana, Alessandra; L., Costantino; S., Pirroni; Masala, Maddalena; A., Cao; Rosatelli, MARIA CRISTINA
"Caratterizzazione funzionale di una nuova mutazione che altera lo splicing dell'introne 6b del gene CFTR"
2009-01-01 V., Faà; Incani, Federica; A., Meloni; D., Corda; Masala, Maddalena; Coiana, Alessandra; A. M., Baffico; M., Seia; Rosatelli, MARIA CRISTINA
"Un polimorfismo dell'esone 15 del gene CFTR genera un trascritto anomalo in un paziente affetto da Fibrosi Cistica"
2009-01-01 Coiana, Alessandra; V., Faà; L., Costantino; S., Pirroni; Masala, Maddalena; A., Cao; Rosatelli, MARIA CRISTINA
A BETA-THALASSAEMIA ALLELE WITH 3 BASE SUBSTITUTION IN CODONS 4/5 & 6 (ACT CCT GAG-> ACA TCT TAG) DETECTED BY DENATURING GRADIENT GEL ELECTROPHORESIS & SEQUENCING
2000-01-01 Saxena, R; Moi, L; Demurtas, M; Rosatelli, MARIA CRISTINA; Cao, A; Verma, I. C.
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients
1998-01-01 Rosatelli, MARIA CRISTINA; Meloni, A; Meloni, A; Devoto, M; Cao, A; Scott, Hs; Peterson, P; Heino, M; Krohn, Kj; Nagamine, K; Kudoh, J; Shimizu, N; Antonarakis, S. E.
A genetic combination of silent beta-thalassaemia, high Hb A2 beta-thalassaemia, and single alpha globin gene deletion causing mild thalassaemia intermedia
1984-01-01 R., Galanello; L., Maccioni; Rosatelli, MARIA CRISTINA; P., Ibba; Nurchi, ANNA MARIA; A., Cao
A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening
2006-01-01 Faa, V; Bettoli, Pp; Demurtas, M; Zanda, M; Ferri, V; Cao, A; Rosatelli, MARIA CRISTINA
A novel β-thalassemia mutation (G->A) at the initiation codon of the β-globin gene
1992-01-01 Saba, Luisella; Meloni, A; Sardu, R; Travi, M; Primignani, P; Rosatelli, MARIA CRISTINA; Cao, A.
A NOVEL B-THALASSEMIA MUTATION (G->A) AT THE INITIATION CODON OF THE B-GLOBIN GENE
1992-01-01 Saba, Luisella; Meloni, A; Sardu, R; Travi, M; Primignani, P; Rosatelli, MARIA CRISTINA; Cao, A.
A novel B-thalassemia mutation: frameshift at codon 59 detected in an Italian carrier
1994-01-01 Meloni, A; Demurtas, M; Moi, L; Faa', V; Cao, A; Rosatelli, MARIA CRISTINA
A NOVEL CYSTIC FIBROSIS MUTATION: DELETION OF SEVENTEEN NUCLEOTIDES AT EXON 10-INTRON 10 BOUNDARY OF THE CFTR GENE IN A SARDINIAN PATIENT
1993-01-01 Leoni, Gb; Rosatelli, MARIA CRISTINA; Cossu, G; Pischedda, Mc; DE VIRGILIIS, S; Cao, A.
A novel pattern of uridine diphosphate glucuronosyltranferase polymorphisms associated with hyperbilirubinemia during nilotinib treatment
2013-01-01 Fozza, C.; Pardini, S.; Coiana, Alessandra; Rosatelli, MARIA CRISTINA; Longinotti, M.
A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF
2004-01-01 Moi, Paolo; Faà, V; Marini, MARIA GIUSEPPINA; Asunis, I; Ibba, G; Cao, A; Rosatelli, MARIA CRISTINA
A promoter mutation of the *-globin gene (-101 C->T) has an age-related expression pattern.(LETTER)
1993-01-01 Murru, S; Pirastu, M; Sciarratta, Gv; Manca, L; Gallisai, D; Toffoli, C; Pischedda, Mc; Cao, A; Rosatelli, MARIA CRISTINA
A promoter mutation, C*T at position -92, leading to silent *-thalassemia
1995-01-01 Rosatelli, MARIA CRISTINA; Faa', V; Meloni, A; Galanello, R; Gasperini, D; Amendola, G; Cao, A.
A SIMPLE ELECTROPHORETIC PROCEDURE FOR FETAL DIAGNOSIS OF B-THALASSEMIA DUE TO SHORT DELETIONS
1992-01-01 Faa', V; Rosatelli, MARIA CRISTINA; Sardu, R; Meloni, A; Toffoli, C; Cao, A.
A specific cystic fibrosis mutation (T338I) resulting in the phenotype of isolated hypotonic dehydration
1995-01-01 Leoni, Gb; Pitzalis, S; Podda, R; Zanda, M; Silvetti, M; Caocci, L; Cao, A; Rosatelli, MARIA CRISTINA
A synonymous mutation in the CFTR gene causes an aberrant splicing in an Italian patient affected by a mild form of cystic fibrosis
2010-01-01 Faà, V; Coiana, Alessandra; Incani, Federica; Costantino, L; Cao, A; Rosatelli, MARIA CRISTINA
Acetilazione e deacetilazione della proteina AIRE e implicazioni funzionali
2012-01-01 Serra, Ml; Incani, Federica; Meloni, A; Corda, D; Cossu, Carla; Cabras, T; Messana, I; Rosatelli, MARIA CRISTINA
AIRE acetylation and deacetylation: effect on protein stability and transactivation activity
2014-01-01 Incani, Federica; Serra, Ml; Meloni, A; Cossu, Carla; Saba, Luisella; Cabras, Tiziana; Messana, Irene; Rosatelli, MARIA CRISTINA