Showing results 101 to 150 of 184
Title Issue Date Author(s) Journal Publisher
Thalassemia in Azerbaijan 1-Jan-1994 Kuliev, A. M.; Rasulov, I. M. R.; Dadasheva, I.; Schwarz, E. I.; Rosatelli, MARIA CRISTINA; Saba, Luisella; Meloni, A.; Gemidjioglu, E.; Petru, M.; Modell, B. JOURNAL OF MEDICAL GENETICS -
Homozygous β-thalassemia with carrier state phenotype 1-Jan-1994 Rosatelli, MARIA CRISTINA; Pischedda, A; Meloni, A; Saba, Luisella; Pomo, A; Travi, M; Fattore, S; Cao, A. - -
Homozygous β-thalassemia resulting in the β-thalassemia carrier state phenotype 1-Jan-1994 Rosatelli, MARIA CRISTINA; Pischedda, A; Meloni, A; Saba, Luisella; Pomo, A; Travi, M; Fattore, S; Cao, A. BRITISH JOURNAL OF HAEMATOLOGY -
MUTATIONS IN THE VASOPRESSIN V2-RECEPTOR GENE IN THREE FAMILIES OF ITALIAN DESCENT WITH NEPHROGENIC DIABETES INSIPIDUS 1-Jan-1994 Faa', V; Ventruto, Ml; Loche, S; Bozzola, M; Podda, R; Cao, A; Rosatelli, MARIA CRISTINA HUMAN MOLECULAR GENETICS -
Genotype-phenotype correlations in B-thalassemias 1-Jan-1994 Cao, A; Galanello, R; Rosatelli, MARIA CRISTINA BLOOD REVIEWS -
Homozygous B-thalassemia resulting in the B-thalassemia carrier state phenotype 1-Jan-1994 Rosatelli, MARIA CRISTINA; Pischedda, A; Meloni, A; Saba, Luisella; Pomo, A; Travi, M; Fattore, S; Cao, A. BRITISH JOURNAL OF HAEMATOLOGY -
A novel B-thalassemia mutation: frameshift at codon 59 detected in an Italian carrier 1-Jan-1994 Meloni, A; Demurtas, M; Moi, L; Faa', V; Cao, A; Rosatelli, MARIA CRISTINA HUMAN MUTATION -
EARLY TRANSABDOMINAL CHORIONIC VILLUS SAMPLING IN COUPLES AT HIGH GENETIC RISK 1-Jan-1993 Monni, G; Ibba, Rm; Lai, R; Cau, G; Mura, S; Olla, G; Rosatelli, MARIA CRISTINA; Cao, A. AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY -
The repeated sequence (AT)x (T)y upstream to the β-globin gene is a simple polymorphism 1-Jan-1993 Meloni, A; Rosatelli, MARIA CRISTINA; Gasperini, D; Perseu, L; Saba, Luisella; Cao, A; Galanello, R. - -
Thalassemia mutations in Adzerbaijan 1-Jan-1993 Kuliev, Am; Rasulov, E; Dadasheva, T; Rosatelli, MARIA CRISTINA; Saba, Luisella; Meloni, A; Gamidjioglou, E; Petrou, M. AND MODELL B. - -
Identificazione di 2 nuove mutazioni del gene CFTR in soggetti di origine sarda 1-Jan-1993 Rosatelli, MARIA CRISTINA; Saba, Luisella; Leoni, Gb; Meloni, A; Faa', V; Cao, A. - -
Screening and prenatal diagnosis of the haemoglobinopathies. In Higgs DR & Weatherall DJ (eds). London: Bailliere Tindall (Review) 1-Jan-1993 Cao, A; Rosatelli, MARIA CRISTINA BAILLIERE'S CLINICAL HAEMATOLOGY -
Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent 1-Jan-1993 Saba, Luisella; Leoni, Gb; Meloni, A; Faa', V; Cao, A; Rosatelli, MARIA CRISTINA HUMAN MOLECULAR GENETICS -
CONTROLLO DELLA TALASSEMIA NELLE POPOLAZIONI A RISCHIO.(REVIEW) 1-Jan-1993 Rosatelli, MARIA CRISTINA PROSPETTIVE IN PEDIATRIA -
A promoter mutation of the *-globin gene (-101 C->T) has an age-related expression pattern.(LETTER) 1-Jan-1993 Murru, S; Pirastu, M; Sciarratta, Gv; Manca, L; Gallisai, D; Toffoli, C; Pischedda, Mc; Cao, A; Rosatelli, MARIA CRISTINA BLOOD -
The repeated sequence (AT)x (T)y upstream to the B-globin gene is a simple polymorphism. (LETTER) 1-Jan-1993 Galanello, R; Meloni, A; Gasperini, D; Perseu, L; Saba, Luisella; Cao, A; Rosatelli, MARIA CRISTINA BLOOD -
Amplificazione primer-specifica (ARMS): un metodo di identificazione di mutazioni puntiformi note applicato alla diagnosi prenatale di β-talassemia 1-Jan-1993 Saba, Luisella; Rosatelli, MARIA CRISTINA; Scalas, Mt; Tuveri, T; Bernard, M; Cao, A. - -
Caratterizzazione molecolare di mutazioni puntiformi mediante PCR, elettroforesi su gel di poliacrilamide denaturante (DGGE) e sequenze 1-Jan-1993 Meloni, A; Rosatelli, MARIA CRISTINA; Demurtas, M; Saba, Luisella; Pitzalis, S; Leoni, Gb; Cao, A. - -
A NOVEL CYSTIC FIBROSIS MUTATION: DELETION OF SEVENTEEN NUCLEOTIDES AT EXON 10-INTRON 10 BOUNDARY OF THE CFTR GENE IN A SARDINIAN PATIENT 1-Jan-1993 Leoni, Gb; Rosatelli, MARIA CRISTINA; Cossu, G; Pischedda, Mc; DE VIRGILIIS, S; Cao, A. HUMAN MOLECULAR GENETICS -
Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent. (MUTATION REPORT) 1-Jan-1993 Saba, Luisella; Leoni, Gb; Meloni, A; Faa', V; Cao, A; Rosatelli, MARIA CRISTINA HUMAN MOLECULAR GENETICS -
A SIMPLE ELECTROPHORETIC PROCEDURE FOR FETAL DIAGNOSIS OF B-THALASSEMIA DUE TO SHORT DELETIONS 1-Jan-1992 Faa', V; Rosatelli, MARIA CRISTINA; Sardu, R; Meloni, A; Toffoli, C; Cao, A. PRENATAL DIAGNOSIS -
PROMOTER MUTATIONS PRODUCING MILD B-THALASSEMIA IN THE ITALIAN POPULATION 1-Jan-1992 Meloni, A; Rosatelli, MARIA CRISTINA; Faa', V; Sardu, R; Saba, Luisella; Murru, S; Sciarratta, Gv; Baldi, M; Tannoia, N; Vitucci, A; Cao, A. BRITISH JOURNAL OF HAEMATOLOGY -
MOLECULAR SCREENING AND FETAL DIAGNOSIS OF B-THALASSEMIA IN THE ITALIAN POPULATION 1-Jan-1992 Rosatelli, MARIA CRISTINA; Tuveri, T; Scalas, Mt; Leoni, Gb; Sardu, R; Faa', V; Meloni, A; Pischedda, Ma; Demurtas, M; Monni, G; Cao, A. HUMAN GENETICS -
A novel β-thalassemia mutation (G->A) at the initiation codon of the β-globin gene 1-Jan-1992 Saba, Luisella; Meloni, A; Sardu, R; Travi, M; Primignani, P; Rosatelli, MARIA CRISTINA; Cao, A. HUMAN MUTATION -
B-GLOBIN HAPLOTYPE AND XMNI POLYMORPHISM AT POSITION GY-158 AND HBF PRODUCTION IN FANCONI'S ANEMIA 1-Jan-1992 Rosatelli, MARIA CRISTINA; Altay, C; Oner, R; Leoni, Gb; Moi, B; Atzori, G; Cao, A. HAEMATOLOGICA -
A NOVEL B-THALASSEMIA MUTATION (G->A) AT THE INITIATION CODON OF THE B-GLOBIN GENE 1-Jan-1992 Saba, Luisella; Meloni, A; Sardu, R; Travi, M; Primignani, P; Rosatelli, MARIA CRISTINA; Cao, A. HUMAN MUTATION -
Molecular characterization of beta-thalassemia in the Sardinian population 1-Jan-1992 Rosatelli, MARIA CRISTINA; Dozy, A; Faa', V; Meloni, A; Sardu, R; Saba, Luisella; Kan, Yw; Cao, A. AMERICAN JOURNAL OF HUMAN GENETICS -
HETEROZYGOUS B-THALASSEMIA: RELATIONSHIP BETWEEN THE HEMATOLOGICAL PHENOTYPE AND THE TYPE OF B-THALASSEMIA MUTATION. (REVIEW) 1-Jan-1992 Rosatelli, MARIA CRISTINA; Leoni, Gb; Tuveri, T; Scalas, Mt; Mosca, A; Galanello, R; Gasperini, D; Cao, A. AMERICAN JOURNAL OF HEMATOLOGY -
Molecular basis of beta-thalassemia intermedia in a southern Italian region (Puglia) 1-Jan-1991 Leoni, Gb; Rosatelli, MARIA CRISTINA; Vitucci, A; Addis, Maria; Loi, A; Tannoia, N; Cao, A. ACTA HAEMATOLOGICA -
Thalassemias in Sardinia: Molecular Pathology, Phenotype-Genotype Correlation, and Prevention 1-Jan-1991 Cao, A; Rosatelli, MARIA CRISTINA; Pirastu, M; Galanello, Renzo AMERICAN JOURNAL OF PEDIATRIC HEMATOLOGY/ONCOLOGY -
HEMOGLOBIN CAGLIARI (B60(E4) VAL->GLU): A NOVEL UNSTABLE THALASSEMIC HEMOGLOBINOPATHY 1-Jan-1991 Podda, A; Galanello, R; Maccioni, L; Melis, Ma; Rosatelli, MARIA CRISTINA; Perseu, L; Cao, A. BLOOD -
Two novel promoter mutations producing mild β-thalassemia in the Italian population 1-Jan-1991 Meloni, A; Faa', V; Sardu, R; Saba, Luisella; Murru, S; Sciarratta, Gv; Baldi, M; Tannoia, N; Vitucci, A; Rosatelli, MARIA CRISTINA; Cao, A. - -
Molecular characterization of β-thalassemia in the Sardinian population 1-Jan-1991 Rosatelli, MARIA CRISTINA; Dozy, A; Faa', V; Meloni, A; Sardu, R; Saba, Luisella; Kan, Yw; Cao, A. - -
Population-based genetic screening. Current opinion in Genetics and Development (Review) 1-Jan-1991 Cao, A; Rosatelli, MARIA CRISTINA; Galanello, R. CURRENT OPINION IN GENETICS & DEVELOPMENT -
Antenatal diagnosis of beta-thalassemia in Sardinia 1-Jan-1990 Cao, A; Rosatelli, MARIA CRISTINA; Leoni, Gb; Tuveri, Teresa; Scalas, MARIA TERESA; Monni, G; Olla, G; Galanello, Renzo ANNALS OF THE NEW YORK ACADEMY OF SCIENCES -
Reliability of prenatal diagnosis of genetic diseases by analysis of amplified trophoblast DNA 1-Jan-1990 Rosatelli, MARIA CRISTINA; Sardu, R; Tuveri, T; Scalas, Mt; DI TUCCI, A; DE MURTAS, M; Loudianos, G; Monni, G; Cao, A. JOURNAL OF MEDICAL GENETICS -
MOLECULAR BASES FOR CYSTIC FIBROSIS IN THE SARDINIAN POPULATION 1-Jan-1990 Leoni, Gb; Rosatelli, MARIA CRISTINA; Sardu, R; Scarpa, G; Silvetti, M; Cao, A. HUMAN GENETICS -
FETAL HYDROPS IN SARDINIA: IMPLICATION FOR GENETIC COUNSELLING 1-Jan-1990 Galanello, R; Sanna, Ma; Maccioni, L; Gasperini, D; Melis, Ma; Rosatelli, MARIA CRISTINA; Monni, G; Cao, A. CLINICAL GENETICS -
Prenatal diagnosis of inherited hemoglobinopathies. (REVIEW)(SUPPL.) 1-Jan-1990 Cao, A; Pirastu, M; Rosatelli, MARIA CRISTINA HAEMATOLOGICA -
SECOND TRIMESTER PLACENTAL BIOPSY VERSUS AMNIOCENTESIS FOR PRENATAL DIAGNOSIS OF B-THALASSEMIA.(LETTER) 1-Jan-1990 Monni, G; Olla, G; Rosatelli, MARIA CRISTINA; Cao, A. NEW ENGLAND JOURNAL OF MEDICINE -
WORLDWIDE SURVEY OF THE DELTA F508 MUTATION. REPORT FROM THE CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM. (LETTER) 1-Jan-1990 Rosatelli, MARIA CRISTINA; Cao, A; Leoni, Gb AMERICAN JOURNAL OF HUMAN GENETICS -
REGIONAL DISTRIBUTION OF CYSTIC FIBROSIS LINKED DNA HAPLOTYPES IN ITALY, A COLLABORATIVE STUDY 1-Jan-1990 Gasparini, P; Cappello, N; Dallapiccola, B; Devoto, M; Estivill, X; Ferrari, M; Leoni, G; Novelli, G; Piazza, A; Pignatti, Pf; Romeo, G; Rosatelli, MARIA CRISTINA; Savoia, A; Seia, M; Williamson, R. GENE GEOGRAPHY -
THALASSEMIA INTERMEDIA RESULTING FROM A MILD B-THALASSEMIA MUTATION 1-Jan-1989 Rosatelli, MARIA CRISTINA; Oggiano, L; Leoni, Gb; Tuveri, T; DI TUCCI, A; Scalas, Mt; Dore, F; Pistidda, P; Massa, A; Longinotti, M; Cao, A. BLOOD -
DIAGNOSI PRENATALE DI EMOGLOBINOPATIE EREDITARIE. (REVIEW) 1-Jan-1989 Cao, A; Pirastu, M; Rosatelli, MARIA CRISTINA HAEMATOLOGICA -
THE PREVENTION OF THALASSEMIA IN SARDINIA.(REVIEW) 1-Jan-1989 Cao, A; Rosatelli, MARIA CRISTINA; Galanello, R; Monni, G; Cossu, P; Ristaldi, Ms CLINICAL GENETICS -
PRENATAL DIAGNOSIS OF INHERITED HEMOGLOBINOPATHIES.(REVIEW) 1-Jan-1989 Cao, A; Rosatelli, MARIA CRISTINA; Galanello, R; Ristaldi, Ms INDIAN JOURNAL OF PEDIATRICS -
PRENATAL DIAGNOSIS OF B-THALASSEMIA IN MEDITERRANEAN POPULATIONS BY DOT BLOT ANALYSIS WITH DNA AMPLIFICATION AND ALLELE SPECIFIC OLIGONUCLEOTIDE PROBES 1-Jan-1989 Ristaldi, Ms; Pirastu, M; Rosatelli, MARIA CRISTINA; Monni, G; Erlich, H; Saiki, R; Cao, A. PRENATAL DIAGNOSIS -
ERYTHROPOIESIS FOLLOWING BONE MARROW TRANSPLANTATION FROM DONORS HETEROZYGOUS FOR B-THALASSEMIA 1-Jan-1989 Galanello, R; Barella, S; Maccioni, L; Paglietti, MARIA ELISABETTA; Melis, Ma; Rosatelli, MARIA CRISTINA; Argiolu, F; Cao, A. BRITISH JOURNAL OF HAEMATOLOGY -
Molecular analysis of beta zero-thalassemia intermedia in Sardinia 1-Jan-1989 Galanello, R; Dessi', E; Melis, Ma; Addis, Maria; Sanna, Ma; Rosatelli, MARIA CRISTINA; Argiolu, F; Giagu, N; Turco, Mp; Cacace, Enrico; Pirastu, M; Cao, A. BLOOD -
PRENATAL DIAGNOSIS OF B-THALASSEMIA BY OLIGONUCLEOTIDE ANALYSIS IN MEDITERRANEAN POPULATIONS 1-Jan-1988 Rosatelli, MARIA CRISTINA; Tuveri, T; Scalas, Mt; DI TUCCI, A; Leoni, Gb; Furbetta, M; Monni, G; Cao, A. JOURNAL OF MEDICAL GENETICS -
Showing results 101 to 150 of 184
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