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Results: 1-13 |
Results: 13
IDENTIFICATION OF A POTENTIAL TRANSCRIPTION REGULATOR MUTATED IN AUTOIMMUNE POLYGLANDULAR DISEASE-1
Authors: ANTONARAKIS SE NAGAMINE K PETERSON P ROSATELLI MC LALIOTI MD MULLIS PE BETTERLE C COHEN A SERI M LERONE M ROMEO G CAO A KUDOH J KROHN KJE SHIMIZU N SCOTT HS
Citation: Se. Antonarakis et al., IDENTIFICATION OF A POTENTIAL TRANSCRIPTION REGULATOR MUTATED IN AUTOIMMUNE POLYGLANDULAR DISEASE-1, European journal of human genetics, 6, 1998, pp. 202-202
MOLECULAR ANALYSIS OF PATIENTS OF SARDINIAN DESCENT WITH CRIGLER-NAJJAR SYNDROME TYPE-I
Authors: ROSATELLI MC MELONI A FAA V SABA L CRISPONI G CLEMENTE MG MELONI G PIGA MT CAO A
Citation: Mc. Rosatelli et al., MOLECULAR ANALYSIS OF PATIENTS OF SARDINIAN DESCENT WITH CRIGLER-NAJJAR SYNDROME TYPE-I, Journal of Medical Genetics, 34(2), 1997, pp. 122-125
NEW FRAMESHIFT MUTATION IN THE DAX-1 GENE IN A PATIENT WITH X-LINKED ADRENAL HYPOPLASIA AND HYPOGONADOTROPIC HYPOGONADISM
Authors: MELONI A MELONI A CAO A ROSATELLI MC
Citation: A. Meloni et al., NEW FRAMESHIFT MUTATION IN THE DAX-1 GENE IN A PATIENT WITH X-LINKED ADRENAL HYPOPLASIA AND HYPOGONADOTROPIC HYPOGONADISM, Human mutation, 8(2), 1996, pp. 183-184
HB HINWIL OR BETA-38(C4)THR-]ASN - A NEW BETA-CHAIN VARIANT DETECTED IN A SWISS FAMILY
Authors: FRISCHKNECHT H VENTRUTO M HESS D HUNZIKER P ROSATELLI MC CAO A BREITENSTEIN U FEHR J TUCHSCHMID P
Citation: H. Frischknecht et al., HB HINWIL OR BETA-38(C4)THR-]ASN - A NEW BETA-CHAIN VARIANT DETECTED IN A SWISS FAMILY, Hemoglobin, 20(1), 1996, pp. 31-40
CLINICAL-EXPERIENCE OF MANAGEMENT OF THALASSEMIA - THE SARDINIAN EXPERIENCE
Authors: CAO A GALANELLO R ROSATELLI MC ARGIOLU F DEVIRGILIIS S
Citation: A. Cao et al., CLINICAL-EXPERIENCE OF MANAGEMENT OF THALASSEMIA - THE SARDINIAN EXPERIENCE, Seminars in hematology, 33(1), 1996, pp. 66-75
A SPECIFIC CYSTIC-FIBROSIS MUTATION (T3381) ASSOCIATED WITH THE PHENOTYPE OF ISOLATED HYPOTONIC DEHYDRATION
Authors: LEONI GB PITZALIS S PODDA R ZANDA M SILVETTI M CAOCCI L CAO A ROSATELLI MC
Citation: Gb. Leoni et al., A SPECIFIC CYSTIC-FIBROSIS MUTATION (T3381) ASSOCIATED WITH THE PHENOTYPE OF ISOLATED HYPOTONIC DEHYDRATION, The Journal of pediatrics, 127(2), 1995, pp. 281-283
A PROMOTER MUTATION, C-]T AT POSITION -92, LEADING TO SILENT BETA-THALASSEMIA
Authors: ROSATELLI MC FAA V MELONI A FIORENZA F GALANELLO R GASPERINI D AMENDOLA G CAO A
Citation: Mc. Rosatelli et al., A PROMOTER MUTATION, C-]T AT POSITION -92, LEADING TO SILENT BETA-THALASSEMIA, British Journal of Haematology, 90(2), 1995, pp. 483-485
A NOVEL BETA-THALASSEMIA MUTATION - FRAMESHIFT AT CODON-59 DETECTED IN AN ITALIAN CARRIER
Authors: MELONI A DEMURTAS M MOI L FAA V CAO A ROSATELLI MC
Citation: A. Meloni et al., A NOVEL BETA-THALASSEMIA MUTATION - FRAMESHIFT AT CODON-59 DETECTED IN AN ITALIAN CARRIER, Human mutation, 3(3), 1994, pp. 309-311
MUTATIONS IN THE VASOPRESSIN V2-RECEPTOR GENE IN 3 FAMILIES OF ITALIAN DESCENT WITH NEPHROGENIC DIABETES-INSIPIDUS
Authors: FAA V VENTRUTO ML LOCHE S BOZZOLA M PODDA R CAO A ROSATELLI MC
Citation: V. Faa et al., MUTATIONS IN THE VASOPRESSIN V2-RECEPTOR GENE IN 3 FAMILIES OF ITALIAN DESCENT WITH NEPHROGENIC DIABETES-INSIPIDUS, Human molecular genetics, 3(9), 1994, pp. 1685-1686
GENOTYPE-PHENOTYPE CORRELATIONS IN BETA-THALASSEMIAS
Authors: CAO A GALANELLO R ROSATELLI MC
Citation: A. Cao et al., GENOTYPE-PHENOTYPE CORRELATIONS IN BETA-THALASSEMIAS, Blood reviews, 8(1), 1994, pp. 1-12
HOMOZYGOUS BETA-THALASSEMIA RESULTING IN THE BETA-THALASSEMIA CARRIERSTATE PHENOTYPE
Authors: ROSATELLI MC PISCHEDDA A MELONI A SABA L POMO A TRAVI M FATTORE S CAO A
Citation: Mc. Rosatelli et al., HOMOZYGOUS BETA-THALASSEMIA RESULTING IN THE BETA-THALASSEMIA CARRIERSTATE PHENOTYPE, British Journal of Haematology, 88(3), 1994, pp. 562-565
2 NOVEL MUTATIONS IN THE TRANSMEMBRANE DOMAINS OF THE CFTR GENE IN SUBJECTS OF SARDINIAN DESCENT
Authors: SABA L LEONI GB MELONI A FAA V CAO A ROSATELLI MC
Citation: L. Saba et al., 2 NOVEL MUTATIONS IN THE TRANSMEMBRANE DOMAINS OF THE CFTR GENE IN SUBJECTS OF SARDINIAN DESCENT, Human molecular genetics, 2(10), 1993, pp. 1739-1740
A PROMOTER MUTATION OF THE BETA-GLOBIN GENE (-101-C-]T) HAS AN AGE-RELATED EXPRESSION PATTERN
Authors: MURRU S PISCHEDDA MC CAO A ROSATELLI MC PIRASTU M SCIARRATTA GV
Citation: S. Murru et al., A PROMOTER MUTATION OF THE BETA-GLOBIN GENE (-101-C-]T) HAS AN AGE-RELATED EXPRESSION PATTERN, Blood, 81(10), 1993, pp. 2818-2819
Risultati: 1-13 |