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
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
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
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
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
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
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
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
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
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
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