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Results: 1-18 |
Results: 18
A NEONATAL PILOT SCREENING OF CYSTIC-FIBROSIS IN ITALY BASED ON OLA-PCR TECHNIQUE
Authors: GASPARINI P STANZIALE P BISCEGLIA L PRATO G RESTAGNO G FORTINA P BANCHIERI N ARBUSTINI E ZELANTE L
Citation: P. Gasparini et al., A NEONATAL PILOT SCREENING OF CYSTIC-FIBROSIS IN ITALY BASED ON OLA-PCR TECHNIQUE, European journal of human genetics, 6, 1998, pp. 3056-3056
RETINITIS-PIGMENTOSA, HYPOPITUITARISM, NEPHRONOPHTHISIS, AND MILD SKELETAL DYSPLASIA (RHYNS) - A NEW SYNDROME
Authors: DIROCCO M PICCO P ARSLANIAN A RESTAGNO G PERFUMO F BUONCOMPAGNI A GATTORNO M BORRONE C
Citation: M. Dirocco et al., RETINITIS-PIGMENTOSA, HYPOPITUITARISM, NEPHRONOPHTHISIS, AND MILD SKELETAL DYSPLASIA (RHYNS) - A NEW SYNDROME, American journal of medical genetics, 73(1), 1997, pp. 1-4
DO RP FILTERS IMPROVE RETINITIS-PIGMENTOSA PATIENT
Authors: GRIGNOLO FM FEA A FASANA MG GENTILE I RESTAGNO G CARBONARA A
Citation: Fm. Grignolo et al., DO RP FILTERS IMPROVE RETINITIS-PIGMENTOSA PATIENT, Investigative ophthalmology & visual science, 38(4), 1997, pp. 3934-3934
SYSTEMATIC USE OF DYSTROPHIN TESTING IN MUSCLE BIOPSIES - RESULTS IN 201 CASES
Authors: DORIGUZZI C PALMUCCI L MONGINI T CHIADOPIAT L MANISCALCO M RESTAGNO G
Citation: C. Doriguzzi et al., SYSTEMATIC USE OF DYSTROPHIN TESTING IN MUSCLE BIOPSIES - RESULTS IN 201 CASES, European journal of clinical investigation, 27(4), 1997, pp. 352-358
SPINOCEREBELLAR ATAXIAS ANALYSIS OF CAG EXPANSIONS AT SCA1, SCA2, SCA3 AND SCA6 LOCI IN ITALIAN FAMILIES
Authors: NARDACCHIONE A DRAGONE E ORSI L MORTARA P FRANCO A PAVANELLI E GROSSO E MATULLO G CARBONARA A RESTAGNO G
Citation: A. Nardacchione et al., SPINOCEREBELLAR ATAXIAS ANALYSIS OF CAG EXPANSIONS AT SCA1, SCA2, SCA3 AND SCA6 LOCI IN ITALIAN FAMILIES, American journal of human genetics, 61(4), 1997, pp. 2377-2377
MULTIPLE INDEPENDENT MOLECULAR ETIOLOGY FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A PATIENTS FROM VARIOUS GEOGRAPHICAL ORIGINS
Authors: RICHARD I BRENGUIER L DINCER P ROUDAUT C BADY B BURGUNDER JM CHEMALY R GARCIA CA HALABY G JACKSON CE KURNIT DM LEFRANC G LEGUM C LOISELET J MERLINI L NIVELONCHEVALLIER A OLLAGNONROMAN E RESTAGNO G TOPALOGLU H BECKMANN JS
Citation: I. Richard et al., MULTIPLE INDEPENDENT MOLECULAR ETIOLOGY FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A PATIENTS FROM VARIOUS GEOGRAPHICAL ORIGINS, American journal of human genetics, 60(5), 1997, pp. 1128-1138
PATTERN DYSTROPHIES OF THE RETINAL-PIGMENT EPITHELIUM
Authors: DANIELE S CARBONARA A DANIELE C RESTAGNO G ORCIDI F
Citation: S. Daniele et al., PATTERN DYSTROPHIES OF THE RETINAL-PIGMENT EPITHELIUM, Acta ophthalmologica Scandinavica, 74(1), 1996, pp. 51-55
PRENATAL-DIAGNOSIS OF LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A
Authors: RESTAGNO G ROMERO N RICHARD I BECKMANN JS PAGLIANO M FERRONE M CARBONARA A MERLINI L
Citation: G. Restagno et al., PRENATAL-DIAGNOSIS OF LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A, Neuromuscular disorders, 6(3), 1996, pp. 173-176
DETECTION OF 2 DIFFERENT NONSENSE MUTATIONS IN EXON-44 OF THE PKD1 GENE IN 2 UNRELATED ITALIAN FAMILIES WITH SEVERE AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE
Authors: TURCO AE ROSSETTI S BRESIN E CORRA S RESTAGNO G CARBONARA A DEPRISCO O GAMMARO L MASCHIO G PIGNATTI PF
Citation: Ae. Turco et al., DETECTION OF 2 DIFFERENT NONSENSE MUTATIONS IN EXON-44 OF THE PKD1 GENE IN 2 UNRELATED ITALIAN FAMILIES WITH SEVERE AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE, Nephrology, dialysis, transplantation, 11, 1996, pp. 10-12
AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN AN ITALIAN FAMILY CARRYING A NOVEL NONSENSE MUTATION AND 2 MISSENSE CHANGES IN EXON-44 AND EXON-45 OF THE PKD1 GENE
Authors: ROSSETTI S BRESIN E RESTAGNO G CARBONARA A CORRA S DEPRISCO O PIGNATTI PF TURCO AE
Citation: S. Rossetti et al., AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN AN ITALIAN FAMILY CARRYING A NOVEL NONSENSE MUTATION AND 2 MISSENSE CHANGES IN EXON-44 AND EXON-45 OF THE PKD1 GENE, American journal of medical genetics, 65(2), 1996, pp. 155-159
CARRIER DETECTION OF DUCHENNE MUSCULAR-DYSTROPHY THROUGH ANALYSIS OF DNA FROM DECIDUOUS TEETH OF A DEAD AFFECTED CHILD
Authors: RESTAGNO G FERRONE M DORIGUZZI C PALMUCCI L MONGINI T CARBONARA A
Citation: G. Restagno et al., CARRIER DETECTION OF DUCHENNE MUSCULAR-DYSTROPHY THROUGH ANALYSIS OF DNA FROM DECIDUOUS TEETH OF A DEAD AFFECTED CHILD, Prenatal diagnosis, 15(7), 1995, pp. 672-674
AN ITALIAN FAMILY WITH ADRP AND CYS-110-TYR MUTATION IN THE RHODOPSINGENE - CLINICAL-EVALUATION AND HETEROGENEITY IN 3 GENERATIONS
Authors: GRIGNOLO FM FEA A RESTAGNO G FASANA MG DANESE P NARDACCHIONE A CARBONARA ZA
Citation: Fm. Grignolo et al., AN ITALIAN FAMILY WITH ADRP AND CYS-110-TYR MUTATION IN THE RHODOPSINGENE - CLINICAL-EVALUATION AND HETEROGENEITY IN 3 GENERATIONS, Investigative ophthalmology & visual science, 36(4), 1995, pp. 890-890
AN ITALIAN FAMILY WITH ADRP AND CYS-110-TYR MUTATION IN THE RHODOPSINGENE - CLINICAL-EVALUATION AND HETEROGENEITY IN 3 GENERATIONS
Authors: RESTAGNO G NARDACCHIONE A DANESE P FEA A GRIGNOLO FM CARBONARA AO
Citation: G. Restagno et al., AN ITALIAN FAMILY WITH ADRP AND CYS-110-TYR MUTATION IN THE RHODOPSINGENE - CLINICAL-EVALUATION AND HETEROGENEITY IN 3 GENERATIONS, Vision research, 35, 1995, pp. 3232-3232
NOVEL NONSENSE MUTATIONS IN THE PKD1 GENE IN ITALIAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD)
Authors: TURCO AE ROSSETTI S BRESIN E RESTAGNO G CARBONARA A GAMMARO L MASCHIO G PIGNATTI PF
Citation: Ae. Turco et al., NOVEL NONSENSE MUTATIONS IN THE PKD1 GENE IN ITALIAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD), American journal of human genetics, 57(4), 1995, pp. 1330-1330
THE ORIGIN OF THE MAJOR CYSTIC-FIBROSIS MUTATION (DELTA-F508) IN EUROPEAN POPULATIONS
Authors: MORRAL N BERTRANPETIT J ESTIVILL X NUNES V CASALS T GIMENEZ J REIS A VARONMATEEVA R MACEK M KALAYDJIEVA L ANGELICHEVA D DANCHEVA R ROMEO G RUSSO MP GARNERONE S RESTAGNO G FERRARI M MAGNANI C CLAUSTRES M DESGEORGES M SCHWARTZ M SCHWARZ M DALLAPICCOLA B NOVELLI G FEREC C DEARCE M NEMETI M KERE T ANVRET M DAHL N KADASI L
Citation: N. Morral et al., THE ORIGIN OF THE MAJOR CYSTIC-FIBROSIS MUTATION (DELTA-F508) IN EUROPEAN POPULATIONS, Nature genetics, 7(2), 1994, pp. 169-175
UNUSUAL EXPRESSION AND VERY MILD COURSE OF XP21 MUSCULAR-DYSTROPHY (BECKER TYPE) IN A 60-YEAR-OLD MAN WITH 26-PERCENT DELETION OF THE DYSTROPHIN GENE
Authors: PALMUCCI L DORIGUZZI C MONGINI T RESTAGNO G CHIADOPIAT L MANISCALCO M
Citation: L. Palmucci et al., UNUSUAL EXPRESSION AND VERY MILD COURSE OF XP21 MUSCULAR-DYSTROPHY (BECKER TYPE) IN A 60-YEAR-OLD MAN WITH 26-PERCENT DELETION OF THE DYSTROPHIN GENE, Neurology, 44(3), 1994, pp. 541-543
SMALL FRAMESHIFT DELETIONS WITHIN THE COL4A5 GENE IN JUVENILE-ONSET ALPORT SYNDROME
Authors: RENIERI A SERI M GALLI L COSCI P IMBASCIATI E MASSELLA L RIZZONI G RESTAGNO G CARBONARA AO STRAMIGNONI E BASOLO B PICCOLI G DEMARCHI M
Citation: A. Renieri et al., SMALL FRAMESHIFT DELETIONS WITHIN THE COL4A5 GENE IN JUVENILE-ONSET ALPORT SYNDROME, Human genetics, 92(4), 1993, pp. 417-420
EXERCISE INTOLERANCE AND RECURRENT MYOGLOBINURIA AS THE ONLY EXPRESSION OF XP21 BECKER TYPE MUSCULAR-DYSTROPHY
Authors: DORIGUZZI C PALMUCCI L MONGINI T CHIADOPIAT L RESTAGNO G FERRONE M
Citation: C. Doriguzzi et al., EXERCISE INTOLERANCE AND RECURRENT MYOGLOBINURIA AS THE ONLY EXPRESSION OF XP21 BECKER TYPE MUSCULAR-DYSTROPHY, Journal of neurology, 240(5), 1993, pp. 269-271
Risultati: 1-18 |