Showing results 51 to 100 of 184
Title Issue Date Author(s) Journal Publisher
“A new splicing mutation in CFTR gene” 1-Jan-2007 V., Faà; A., Meloni; Masala, Maddalena; D., Corda; G., Ibba; Incani, Federica; A., Cao; Rosatelli, MARIA CRISTINA - -
Uncommon pathogenetic mechanism of CFTR gene 1-Jan-2007 Masala, Maddalena; V., Faà; G., Ibba; Incani, Federica; A., Meloni; A., Cao; Rosatelli, MARIA CRISTINA ITALIAN JOURNAL OF BIOCHEMISTRY -
“Ruolo dei PHD fingers e dei 30 aminoacidi COOH terminali nella attività transattivante della proteina Aire” 1-Jan-2007 A., Meloni; Incani, Federica; D., Corda; Masala, Maddalena; A., Cao; Rosatelli, MARIA CRISTINA - -
“Identificazione di una nuova mutazione di splicing nel gene CFTR” 1-Jan-2007 V., Faa; A., Meloni; Coiana, Alessandra; D., Corda; G., Ibba; Masala, Maddalena; A., Cao; Rosatelli, MARIA CRISTINA - -
“The -3440 C->A variant in the gtPBREM region of the UGT1A1 gene enhances gene expression” 1-Jan-2007 Rosatelli, MARIA CRISTINA; D., Corda; V., Faà; Incani, Federica; G., Ibba; Masala, Maddalena; A., Cao; A., Meloni - -
“Functional domains of Aire protein” 1-Jan-2007 Incani, Federica; Corda, D; Masala, Maddalena; Meloni, A; Cao, A; Rosatelli, MARIA CRISTINA ITALIAN JOURNAL OF BIOCHEMISTRY -
The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity 1-Jan-2007 Salvatore, M; Falbo, V; Floridia, G; Censil, F; Tosto, F; Bombieri, C; Castaldo, G; Pignatti, Pf; Rosatelli, MARIA CRISTINA; Taruscio, D. CLINICAL CHEMISTRY AND LABORATORY MEDICINE -
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-Jan-2006 Faa, V; Bettoli, Pp; Demurtas, M; Zanda, M; Ferri, V; Cao, A; Rosatelli, MARIA CRISTINA THE JOURNAL OF MOLECULAR DIAGNOSTICS -
Thalassaemia-like carriers not linked to the beta-globin gene cluster 1-Jan-2006 Faa, V; Meloni, A; Moi, L; Ibba, G; Travi, M; Vitucci, A; Cao, A; Rosatelli, MARIA CRISTINA BRITISH JOURNAL OF HAEMATOLOGY -
Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification 1-Jan-2006 Scarciolla, O; Stuppia, L; DE ANGELIS, Mv; Murru, S; Palka, C; Giuliani, R; Pace, M; DI MUZIO, A; Torrente, I; Morella, A; Grammatico, P; Giacanelli, M; Rosatelli, MARIA CRISTINA; Uncini, A; Dallapiccola, B. NEUROGENETICS -
Two novel mutations of the AIRE protein affecting its homodimerization properties 1-Jan-2005 Meloni, A; Fiorillo, Edoardo; Corda, D; Perniola, R; Cao, A; Rosatelli, MARIA CRISTINA HUMAN MUTATION -
La variante -3440C-A, nella regione gtPBREM del gene UGT1A1, potenzia l’espressione del gene 1-Jan-2005 A., Meloni; D., Corda; Incani, Federica; E., Fiorillo; Rosatelli, MARIA CRISTINA - -
Analisi del Dna fetale nel plasma materno:prospettive per la diagnosi prenatale di malattie genetiche 1-Jan-2005 Incani, Federica; Faa, ; Ibba, G; Rosatelli, MARIA CRISTINA - -
Immunophenotypic characterisation of peripheral blood lymphocytes in autoimmune polyglandular syndrome type 1: clinical study and review of the literature 1-Jan-2005 Perniola, R; Lobreglio, G; Rosatelli, MARIA CRISTINA; Pitotti, E; Accogli, E; DE RINALDIS, C. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM -
Sistema Rh 1-Jan-2004 Rosatelli, MARIA CRISTINA - Piccin
Iperbilirubinemie non coniugate neonatali ereditarie 1-Jan-2004 Rosatelli, MARIA CRISTINA - Piccin
Talassemie e Anemia falciforme 1-Jan-2004 Cao, A.; Rosatelli, MARIA CRISTINA - Piccin
Preimplantation genetic diagnosis for beta-thalassemia: the Sardinian experience 1-Jan-2004 Monni, G; Cau, G; Usai, V; Perra, G; Lai, R; Ibba, G; Fa, V.; Incani, Federica; Rosatelli, MARIA CRISTINA PRENATAL DIAGNOSIS -
A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF 1-Jan-2004 Moi, Paolo; Faà, V; Marini, MARIA GIUSEPPINA; Asunis, I; Ibba, G; Cao, A; Rosatelli, MARIA CRISTINA BRITISH JOURNAL OF HAEMATOLOGY -
BETA-THALASSEMIA MICROELECTRONIC CHIP: A FAST AND ACCURATE METHOD FOR MUTATION DETECTION. CLIN CHEM 1-Jan-2004 Foglieni, B; Cremonesi, L; Travi, M; Ravani, A; Giambona, A; Rosatelli, MARIA CRISTINA; Perra, C; Fortina, P; Ferrari, M. CLINICAL CHEMISTRY -
Quality assessment in cytogenetic and molecular genetic testing: The experience of the Italian Project on Standardisation and Quality Assurance 1-Jan-2004 Taruscio, D; Falbo, V; Floridia, G; Salvatore, M; Pescucci, C; Catanfora, A; Marongiu, C; Baroncini, A; Calzolari, E; Cao, A; Castaldo, G; DAGNA BRICARELLI, F; Guanti, G; Nitsch, L; Pignatti, Pf; Rosatelli, MARIA CRISTINA; Salvatore, F; Zuffardi, O. CLINICAL CHEMISTRY AND LABORATORY MEDICINE -
Diagnosi genetica preimpianto in coppie a rischio per β-talassemia 1-Jan-2003 G., Ibba; V., Faà; Incani, Federica; T., Tuveri; M. T., Scalas; V., Usai; G., Cau; R., Lai; G., Monni; Rosatelli, MARIA CRISTINA - -
Molecular diagnosis of autoimmune polyendocrinopathy type I (APS1)” 1-Jan-2003 Meloni, A; Faà, V; Incani, Federica; Corda, D; Fiorillo, E; Rosatelli, MARIA CRISTINA - -
Fetal HLA typing in beta thalassaemia: implications for haemopoietic stem-cell transplantation 1-Jan-2003 Orofino, Mg; Argiolu, F; Sanna, Ma; Rosatelli, MARIA CRISTINA; Tuveri, T; Scalas, Mt; Badiali, M; Cossu, P; Puddu, R; Lai, Me; Cao, A. THE LANCET -
Analisi molecolare del gene AIRE in un paziente affetto da poliendocrinopatia autoimmune di tipo 1,eterozigote per la mutazione R139X.” 1-Jan-2002 A., Meloni; V., Faà; D., Corda; Incani, Federica; E., Fiorillo; A., Meloni; A., Cao; Rosatelli, MARIA CRISTINA - -
Delineation of the molecular defects in the AIRE gene in APECED patients from Southern Italy 1-Jan-2002 Meloni, A; Perniola, R; Fa, V; Corvaglia, E; Rosatelli, MARIA CRISTINA THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM -
Screening for thalassemia: A model of success 1-Jan-2002 Cao, A; Rosatelli, MARIA CRISTINA; Monni, G; Galanello, R. VI V. I. I. OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA -
Diagnosi prenatale di beta talassemia mediante analisi del dna fetale ottenuto da sangue periferico materno 1-Jan-2000 Rosatelli, MARIA CRISTINA; Tuveri, T; Scalas, Mt; Monni, G; Lecca, S; Saba, Luisella; Faa, V. - -
Thalassemic trait caused by IVS II-1 (GAEA) mutation detected in a Spanish family 1-Jan-2000 MORENO MIRALLES, I; VAYA MONTANA, A; Rosatelli, MARIA CRISTINA; Mameli, C; BOLUFER GILABERT, P. HAEMATOLOGICA -
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-Jan-2000 Saxena, R; Moi, L; Demurtas, M; Rosatelli, MARIA CRISTINA; Cao, A; Verma, I. C. INDIAN JOURNAL OF MEDICAL RESEARCH -
High-risk pregnancy in beta-thalassemia major women. report of three cases 1-Jan-2000 Perniola, R; Magliari, F; Rosatelli, MARIA CRISTINA; DE MARZI, C. A. GYNECOLOGIC AND OBSTETRIC INVESTIGATION -
Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5 '-diphosphate-glucuronosyltransferase (UGT1A1) gene 1-Jan-2000 Iolascon, A; Meloni, A; Coppola, B; Rosatelli, MARIA CRISTINA JOURNAL OF MEDICAL GENETICS -
Screening genetico Treccani ed., vol IV, pagg -761,1999 1-Jan-1999 Cao, A.; Rosatelli, MARIA CRISTINA - Istituto della Enciclopedia Italiana Treccani
C-->T MUTATION AT -158 G GAMMA HPFH ASSOCIATED WITH 4 BP DELETION (-225-222) IN THE PROMOTER REGION OF THE A GAMMA GENE IN HOMOZYGOUS BETA0 39 NONSENSE THALASSEMIA 1-Jan-1999 ATAULFO GONZALEZ, F; Ropero, P; Sanchez, J; Rosatelli, MARIA CRISTINA; Galanello, R; Villegas, A. HAEMATOLOGICA -
PRENATAL DIAGNOSIS AND SCREENING AND OF THE HAEMOGLOBINOPATHIES. IN HIGGS DR & WEATHERALL DJ (EDS). LONDON: BAILLIERE TINDALL (REVIEW) 1-Jan-1998 Cao, A; Rosatelli, MARIA CRISTINA BAILLIERE'S CLINICAL HAEMATOLOGY -
The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe 1-Jan-1998 Libert, F; Cochaux, P; Beckman, G; Samson, M; Aksenova, M; Cao, A; Czeizel, A; Claustres, M; DE LA RUA, C; Ferrari, M; Ferrec, C; Glover, G; Grinde, B; Guran, S; Kucinskas, V; Lavinha, J; Mercier, B; Ogur, G; Peltonen, L; Rosatelli, MARIA CRISTINA; Schwartz, M; Spitsyn, V; Timar, L; Beckman, L; Vassart, G. HUMAN MOLECULAR GENETICS -
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients 1-Jan-1998 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. HUMAN GENETICS -
β-thalassemia-like determinants associated with intact β-globin gene 1-Jan-1997 Rosatelli, MARIA CRISTINA; Saba, Luisella; Faa', V; Ventruto, M; Meloni, A; Padiglia, Alessandra; Moi, L; Travi, M; Guiso, L; Cao, A. - -
Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I 1-Jan-1997 Rosatelli, MARIA CRISTINA; Meloni, A; Faa, V; Saba, Luisella; Crisponi, G; Clemente, MARIA GRAZIA; Meloni, G; Piga, Mt; Cao, A. JOURNAL OF MEDICAL GENETICS -
Molecular diagnosis and carrier screening for beta thalassemia 1-Jan-1997 Cao, A; Saba, Luisella; Galanello, R; Rosatelli, MARIA CRISTINA JAMA -
Hb Hinwil or *38 (C4) Thr*Asn: a new * chain variant detected in a Swiss family 1-Jan-1996 Frischknecht, H; Ventruto, Ml; Hess, D; Hunziker, P; Rosatelli, MARIA CRISTINA; Cao, A; Breitenstein, U; Fehr, J; Tuchschmid, P. HEMOGLOBIN -
Diagnosi molecolare di malattie genetiche 1-Jan-1996 Saba, Luisella; Rosatelli, MARIA CRISTINA PROSPETTIVE IN PEDIATRIA -
Human EKLF binding and transactivation from wild type and mutant CACCC boxes 1-Jan-1996 Moi, P; Senes, G; Azunis, I; Casula, S; Saba, Luisella; Rosatelli, MARIA CRISTINA; Cao, A. - -
CONTROL OF BETA-THALASSAEMIA BY CARRIER SCREENING, GENETIC COUNSELLING AND PRENATAL DIAGNOSIS: THE SARDINIAN EXPERIENCE. DISCUSSION 151-5. REVIEW 1-Jan-1996 Cao, A; Rosatelli, MARIA CRISTINA; Galanello, R. CIBA FOUNDATION SYMPOSIA -
Cloning, characterization, DNA binding, mapping and mutation analysis of the human erythroid kruppel-like factor (EKLF) gene 1-Jan-1996 Moi, P; Azunis, I; Saba, Luisella; Padiglia, Alessandra; Senes, G; Pischedda, C; Nucaro, Al; Cao, A; Rosatelli, MARIA CRISTINA - -
New frameshift mutation in the DAX-1 gene in a patient with X-linked Adrenal Hypoplasia and Hypogonadotropic Hypogonadism 1-Jan-1996 Meloni, A; Meloni, A; Cao, A; Rosatelli, MARIA CRISTINA HUMAN MUTATION -
CLINICAL EXPERIENCE OF MANAGEMENT OF THALASSEMIA: THE SARDINIAN EXPERIENCE 1-Jan-1996 Cao, A; Galanello, R; Rosatelli, MARIA CRISTINA; Argiolu, F; DE VIRGILIIS, S. SEMINARS IN HEMATOLOGY -
Pathologie moléculaire et diagnostic de la B-thalassémie intermédiaire 1-Jan-1995 Cao, A; Galanello, R; Rosatelli, MARIA CRISTINA HEMATOLOGIE -
A specific cystic fibrosis mutation (T338I) resulting in the phenotype of isolated hypotonic dehydration 1-Jan-1995 Leoni, Gb; Pitzalis, S; Podda, R; Zanda, M; Silvetti, M; Caocci, L; Cao, A; Rosatelli, MARIA CRISTINA THE JOURNAL OF PEDIATRICS -
A promoter mutation, C*T at position -92, leading to silent *-thalassemia 1-Jan-1995 Rosatelli, MARIA CRISTINA; Faa', V; Meloni, A; Galanello, R; Gasperini, D; Amendola, G; Cao, A. BRITISH JOURNAL OF HAEMATOLOGY -
Showing results 51 to 100 of 184
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