ROSATELLI, MARIA CRISTINA

ROSATELLI, MARIA CRISTINA  

DIPARTIMENTO DI SCIENZE MEDICHE E SANITA' PUBBLICA  

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Risultati 1 - 20 di 185 (tempo di esecuzione: 0.032 secondi).
Titolo Data di pubblicazione Autore(i) Rivista Editore
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 1-gen-2000 Saxena, R; Moi, L; Demurtas, M; Rosatelli, MARIA CRISTINA; Cao, A; Verma, I. C. INDIAN JOURNAL OF MEDICAL RESEARCH -
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 1-gen-2006 Faa, V; Bettoli, Pp; Demurtas, M; Zanda, M; Ferri, V; Cao, A; Rosatelli, MARIA CRISTINA THE JOURNAL OF MOLECULAR DIAGNOSTICS -
“A new splicing mutation in CFTR gene” 1-gen-2007 V., Faà; A., Meloni; Masala, Maddalena; D., Corda; G., Ibba; Incani, Federica; A., Cao; Rosatelli, MARIA CRISTINA - -
A novel β-thalassemia mutation (G->A) at the initiation codon of the β-globin gene 1-gen-1992 Saba, Luisella; Meloni, A; Sardu, R; Travi, M; Primignani, P; Rosatelli, MARIA CRISTINA; Cao, A. HUMAN MUTATION -
A NOVEL B-THALASSEMIA MUTATION (G->A) AT THE INITIATION CODON OF THE B-GLOBIN GENE 1-gen-1992 Saba, Luisella; Meloni, A; Sardu, R; Travi, M; Primignani, P; Rosatelli, MARIA CRISTINA; Cao, A. HUMAN MUTATION -
A novel B-thalassemia mutation: frameshift at codon 59 detected in an Italian carrier 1-gen-1994 Meloni, A; Demurtas, M; Moi, L; Faa', V; Cao, A; Rosatelli, MARIA CRISTINA HUMAN MUTATION -
A NOVEL CYSTIC FIBROSIS MUTATION: DELETION OF SEVENTEEN NUCLEOTIDES AT EXON 10-INTRON 10 BOUNDARY OF THE CFTR GENE IN A SARDINIAN PATIENT 1-gen-1993 Leoni, Gb; Rosatelli, MARIA CRISTINA; Cossu, G; Pischedda, Mc; DE VIRGILIIS, S; Cao, A. HUMAN MOLECULAR GENETICS -
A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF 1-gen-2004 Moi, Paolo; Faà, V; Marini, MARIA GIUSEPPINA; Asunis, I; Ibba, G; Cao, A; Rosatelli, MARIA CRISTINA BRITISH JOURNAL OF HAEMATOLOGY -
A promoter mutation of the *-globin gene (-101 C->T) has an age-related expression pattern.(LETTER) 1-gen-1993 Murru, S; Pirastu, M; Sciarratta, Gv; Manca, L; Gallisai, D; Toffoli, C; Pischedda, Mc; Cao, A; Rosatelli, MARIA CRISTINA BLOOD -
A promoter mutation, C*T at position -92, leading to silent *-thalassemia 1-gen-1995 Rosatelli, MARIA CRISTINA; Faa', V; Meloni, A; Galanello, R; Gasperini, D; Amendola, G; Cao, A. BRITISH JOURNAL OF HAEMATOLOGY -
A SIMPLE ELECTROPHORETIC PROCEDURE FOR FETAL DIAGNOSIS OF B-THALASSEMIA DUE TO SHORT DELETIONS 1-gen-1992 Faa', V; Rosatelli, MARIA CRISTINA; Sardu, R; Meloni, A; Toffoli, C; Cao, A. PRENATAL DIAGNOSIS -
A specific cystic fibrosis mutation (T338I) resulting in the phenotype of isolated hypotonic dehydration 1-gen-1995 Leoni, Gb; Pitzalis, S; Podda, R; Zanda, M; Silvetti, M; Caocci, L; Cao, A; Rosatelli, MARIA CRISTINA THE JOURNAL OF PEDIATRICS -
"A synonimous mutation in the CFTR gene causes an aberrant splicing in an Italian patients effected by Cystic Fibrosis" 1-gen-2009 V., Faà; Coiana, Alessandra; L., Costantino; S., Pirroni; Masala, Maddalena; A., Cao; 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 1-gen-2010 Faà, V; Coiana, Alessandra; Incani, Federica; Costantino, L; Cao, A; Rosatelli, MARIA CRISTINA THE JOURNAL OF MOLECULAR DIAGNOSTICS -
Acetilazione e deacetilazione della proteina AIRE e implicazioni funzionali 1-gen-2012 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 1-gen-2014 Incani, Federica; Serra, Ml; Meloni, A; Cossu, Carla; Saba, Luisella; Cabras, Tiziana; Messana, Irene; Rosatelli, MARIA CRISTINA JOURNAL OF BIOMEDICAL SCIENCE -
Alpha globin gene duplications in beta thalassemia patients with intact beta globin gene 1-gen-2010 Faà, V; Masala, Maddalena; Cao, A; Rosatelli, MARIA CRISTINA BLOOD CELLS, MOLECULES, & DISEASES -
ALPHA THALASSEMIA IN TWO MEDITERRANEAN POPULATIONS 1-gen-1982 Pirastu, M; Lee, Ky; Dozy, Am; Kan, Yw; Stamatoyannopoulos, G; Hadjiminas, Mg; Zachariades, Z; Angius, A; Furbetta, M; Rosatelli, MARIA CRISTINA; Cao, A. BLOOD -
ALPHA-THALASSEMIA IN SARDINIAN INFANTS 1-gen-1980 Galanello, R; Diana, G; Furbetta, M; Angius, A; Melis, Ma; Rosatelli, MARIA CRISTINA; Cao, A. JOURNAL OF MEDICAL GENETICS -
Amplificazione primer-specifica (ARMS): un metodo di identificazione di mutazioni puntiformi note applicato alla diagnosi prenatale di β-talassemia 1-gen-1993 Saba, Luisella; Rosatelli, MARIA CRISTINA; Scalas, Mt; Tuveri, T; Bernard, M; Cao, A. - -