“A new splicing mutation in CFTR gene”
2007-01-01 V., Faà; A., Meloni; Masala, Maddalena; D., Corda; G., Ibba; Incani, Federica; A., Cao; Rosatelli, MARIA CRISTINA
Uncommon pathogenetic mechanism of CFTR gene
2007-01-01 Masala, Maddalena; V., Faà; G., Ibba; Incani, Federica; A., Meloni; A., Cao; Rosatelli, MARIA CRISTINA
“Ruolo dei PHD fingers e dei 30 aminoacidi COOH terminali nella attività transattivante della proteina Aire”
2007-01-01 A., Meloni; Incani, Federica; D., Corda; Masala, Maddalena; A., Cao; Rosatelli, MARIA CRISTINA
“Identificazione di una nuova mutazione di splicing nel gene CFTR”
2007-01-01 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”
2007-01-01 Rosatelli, MARIA CRISTINA; D., Corda; V., Faà; Incani, Federica; G., Ibba; Masala, Maddalena; A., Cao; A., Meloni
“Functional domains of Aire protein”
2007-01-01 Incani, Federica; Corda, D; Masala, Maddalena; Meloni, A; Cao, A; Rosatelli, MARIA CRISTINA
The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity
2007-01-01 Salvatore, M; Falbo, V; Floridia, G; Censil, F; Tosto, F; Bombieri, C; Castaldo, G; Pignatti, Pf; Rosatelli, MARIA CRISTINA; Taruscio, D.
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
Thalassaemia-like carriers not linked to the beta-globin gene cluster
2006-01-01 Faa, V; Meloni, A; Moi, L; Ibba, G; Travi, M; Vitucci, A; Cao, A; Rosatelli, MARIA CRISTINA
Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification
2006-01-01 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.
Two novel mutations of the AIRE protein affecting its homodimerization properties
2005-01-01 Meloni, A; Fiorillo, Edoardo; Corda, D; Perniola, R; Cao, A; Rosatelli, MARIA CRISTINA
La variante -3440C-A, nella regione gtPBREM del gene UGT1A1, potenzia l’espressione del gene
2005-01-01 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
2005-01-01 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
2005-01-01 Perniola, R; Lobreglio, G; Rosatelli, MARIA CRISTINA; Pitotti, E; Accogli, E; DE RINALDIS, C.
Sistema Rh
2004-01-01 Rosatelli, MARIA CRISTINA
Iperbilirubinemie non coniugate neonatali ereditarie
2004-01-01 Rosatelli, MARIA CRISTINA
Talassemie e Anemia falciforme
2004-01-01 Cao, A.; Rosatelli, MARIA CRISTINA
Preimplantation genetic diagnosis for beta-thalassemia: the Sardinian experience
2004-01-01 Monni, G; Cau, G; Usai, V; Perra, G; Lai, R; Ibba, G; Fa, V.; Incani, Federica; Rosatelli, MARIA CRISTINA
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
BETA-THALASSEMIA MICROELECTRONIC CHIP: A FAST AND ACCURATE METHOD FOR MUTATION DETECTION. CLIN CHEM
2004-01-01 Foglieni, B; Cremonesi, L; Travi, M; Ravani, A; Giambona, A; Rosatelli, MARIA CRISTINA; Perra, C; Fortina, P; Ferrari, M.
Quality assessment in cytogenetic and molecular genetic testing: The experience of the Italian Project on Standardisation and Quality Assurance
2004-01-01 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.
Diagnosi genetica preimpianto in coppie a rischio per β-talassemia
2003-01-01 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)”
2003-01-01 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
2003-01-01 Orofino, Mg; Argiolu, F; Sanna, Ma; Rosatelli, MARIA CRISTINA; Tuveri, T; Scalas, Mt; Badiali, M; Cossu, P; Puddu, R; Lai, Me; Cao, A.
Analisi molecolare del gene AIRE in un paziente affetto da poliendocrinopatia autoimmune di tipo 1,eterozigote per la mutazione R139X.”
2002-01-01 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
2002-01-01 Meloni, A; Perniola, R; Fa, V; Corvaglia, E; Rosatelli, MARIA CRISTINA
Screening for thalassemia: A model of success
2002-01-01 Cao, A; Rosatelli, MARIA CRISTINA; Monni, G; Galanello, R. VI V. I. I.
Diagnosi prenatale di beta talassemia mediante analisi del dna fetale ottenuto da sangue periferico materno
2000-01-01 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
2000-01-01 MORENO MIRALLES, I; VAYA MONTANA, A; Rosatelli, MARIA CRISTINA; Mameli, C; BOLUFER GILABERT, P.
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.
High-risk pregnancy in beta-thalassemia major women. report of three cases
2000-01-01 Perniola, R; Magliari, F; Rosatelli, MARIA CRISTINA; DE MARZI, C. A.
Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5 '-diphosphate-glucuronosyltransferase (UGT1A1) gene
2000-01-01 Iolascon, A; Meloni, A; Coppola, B; Rosatelli, MARIA CRISTINA
Screening genetico Treccani ed., vol IV, pagg -761,1999
1999-01-01 Cao, A.; Rosatelli, MARIA CRISTINA
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
1999-01-01 ATAULFO GONZALEZ, F; Ropero, P; Sanchez, J; Rosatelli, MARIA CRISTINA; Galanello, R; Villegas, A.
PRENATAL DIAGNOSIS AND SCREENING AND OF THE HAEMOGLOBINOPATHIES. IN HIGGS DR & WEATHERALL DJ (EDS). LONDON: BAILLIERE TINDALL (REVIEW)
1998-01-01 Cao, A; Rosatelli, MARIA CRISTINA
The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe
1998-01-01 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.
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.
β-thalassemia-like determinants associated with intact β-globin gene
1997-01-01 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
1997-01-01 Rosatelli, MARIA CRISTINA; Meloni, A; Faa, V; Saba, Luisella; Crisponi, G; Clemente, MARIA GRAZIA; Meloni, G; Piga, Mt; Cao, A.
Molecular diagnosis and carrier screening for beta thalassemia
1997-01-01 Cao, A; Saba, Luisella; Galanello, R; Rosatelli, MARIA CRISTINA
Hb Hinwil or *38 (C4) Thr*Asn: a new * chain variant detected in a Swiss family
1996-01-01 Frischknecht, H; Ventruto, Ml; Hess, D; Hunziker, P; Rosatelli, MARIA CRISTINA; Cao, A; Breitenstein, U; Fehr, J; Tuchschmid, P.
Diagnosi molecolare di malattie genetiche
1996-01-01 Saba, Luisella; Rosatelli, MARIA CRISTINA
Human EKLF binding and transactivation from wild type and mutant CACCC boxes
1996-01-01 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
1996-01-01 Cao, A; Rosatelli, MARIA CRISTINA; Galanello, R.
Cloning, characterization, DNA binding, mapping and mutation analysis of the human erythroid kruppel-like factor (EKLF) gene
1996-01-01 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
1996-01-01 Meloni, A; Meloni, A; Cao, A; Rosatelli, MARIA CRISTINA
CLINICAL EXPERIENCE OF MANAGEMENT OF THALASSEMIA: THE SARDINIAN EXPERIENCE
1996-01-01 Cao, A; Galanello, R; Rosatelli, MARIA CRISTINA; Argiolu, F; DE VIRGILIIS, S.
Pathologie moléculaire et diagnostic de la B-thalassémie intermédiaire
1995-01-01 Cao, A; Galanello, R; Rosatelli, MARIA CRISTINA
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 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.
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 | - |
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