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Results: 1-14 |
Results: 14
INFLUENCE OF SMOKING-HABITS ON DOWNS-SYNDROME RISK-EVALUATION AT MIDTRIMESTER THROUGH BIOCHEMICAL SCREENING
Authors: PERONA M MANCINI G DALLAMICO D GUARALDO V CARBONARA A
Citation: M. Perona et al., INFLUENCE OF SMOKING-HABITS ON DOWNS-SYNDROME RISK-EVALUATION AT MIDTRIMESTER THROUGH BIOCHEMICAL SCREENING, International journal of clinical & laboratory research, 28(3), 1998, pp. 179-182
GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS
Authors: ESTIVILL X BANCELLS C RAMOS C PIAZZA A CARBONARA A MASTELLA G BONIZZATO A CASTALDI G DALCAMO E FERRARI M GASPARINI P GUANTI G LEONI GB PIGNATTI PF RONCHETTO P SEIA M TORRICELLI F GOOSSENS M CHEVALIERPORST F BOZON D SIMONBOUY B FELDMANN D ELION J KAPLAN JC FEREC C CLAUSTRES M CLAVEL C PUCHELLE E LUNARDI J MATHIEU M SCHEFFER H HALLEY DJJ VANDENOUWELAND AMW TIJMENSEN ASLN CASALS T GIMENEZ FJ RAMOS L BENEYTO M BENITEZ J PALACIO A TUMMLER B BAUER I MEITINGER T CLAASS A LINDNER M SCHRODER E STUHRMANN M CASSIMAN J CUPPENS H COCHAUX P PONCIN J MESSIAN L BARANOV VS IVASCHENKO TE BAKAY M BAL J WITT M KANAVAKIS M TZETIS M ANTONIADI T LAVINHA J PACHECO P DUARTE A LOUREIRO P KALAYDJIEVA L ANGELICHEVA D JORDANOVA A SAVOV A EIKLID K HOLMBERG L SCHAEDEL C OZGUC M GOCMEN A ERDERN H LIECHTIGALLATI S NEMETI M FEKETE G KLAASSEN T SCHWARZ M SCHWARTZ M MACEK M MACEK M KREBSOVA A VAVROVA V KEREM B AVELIOVICH D FERAK V KADASI L KAYSEROVA H GLAVAC D RAVNIKGLAVAC M EFREMOV GD CANKIKLEIN N KERE J
Citation: X. Estivill et al., GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS, Human mutation, 10(2), 1997, pp. 135-154
REPEAT TESTING OF MOTHERS WITH HIGH HUMAN CHORIONIC-GONADOTROPIN LEVELS IN DOWNS-SYNDROME SCREENING
Authors: PERONA M MANCINI G DALLAMICO D GUARALDO V CARBONARA A
Citation: M. Perona et al., REPEAT TESTING OF MOTHERS WITH HIGH HUMAN CHORIONIC-GONADOTROPIN LEVELS IN DOWNS-SYNDROME SCREENING, International journal of clinical & laboratory research, 27(4), 1997, pp. 253-256
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
GENETIC HISTORY OF CYSTIC-FIBROSIS MUTATIONS IN ITALY - I - REGIONAL DISTRIBUTION
Authors: RENDINE S CALAFELL F CAPPELLO N GAGLIARDINI R CARAMIA G RIGILLO N SILVETTI M ZANDA M MIANO A BATTISTINI F MARIANELLI L TACCETTI G DIANA MC ROMANO L ROMANO C GIUNTA A PADOAN R PIANAROLI A RAIA V DERITIS G BATTISTINI A GRZINCICH G JAPICHINO L PARDO F ANTONELLI M QUATTRUCCI S LUCIDI V CASTRO M SANTINI B CASTELLO M GUANTI G LEONI GB CAO A TOFFOLI C LUCCI E VULLO C TORRICELLI F SBERNINI F ROMEO G RONCHETTO P SEIA M ROSSI A FERRARI M CREMONESI L SALVATORE F CASTALDO G DALCAMO E MAGGIO A SANGIUOLO F DALLAPICCOLA B MACERATESI P BISCEGLIA L GASPARINI P CARBONARA A BONIZZATO A CABRINI G BOMBIERI C PIGNATTI PF BORGO G CASTELLANI C VILLANI A ARDUINO C SALVATORE D MASTELLA G PIAZZA A
Citation: S. Rendine et al., GENETIC HISTORY OF CYSTIC-FIBROSIS MUTATIONS IN ITALY - I - REGIONAL DISTRIBUTION, Annals of Human Genetics, 61, 1997, pp. 411-424
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
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
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
VALIDATION OF IGA1 AND IGA2 MEASUREMENTS BY A SOLID-PHASE IMMUNORADIOMETRIC ASSAY IN SERUM AND SECRETIONS
Authors: DEPELCHIN S DEHENNIN JP BOTTARO A CARBONARA A VAERMAN JP SIBILLE Y
Citation: S. Depelchin et al., VALIDATION OF IGA1 AND IGA2 MEASUREMENTS BY A SOLID-PHASE IMMUNORADIOMETRIC ASSAY IN SERUM AND SECRETIONS, International journal of clinical & laboratory research, 24(3), 1994, pp. 154-161
MATERNAL SERUM MARKERS - ESTIMATION OF THE RISK OF DOWNS-SYNDROME - APROSPECTIVE-STUDY
Authors: MANCINI G PERONA M DALLAMICO D BOLLATI C ALBANO F MAZZONE R ROSSO M GROSSO E MIGONE N FIOCCHI F CARBONARA A
Citation: G. Mancini et al., MATERNAL SERUM MARKERS - ESTIMATION OF THE RISK OF DOWNS-SYNDROME - APROSPECTIVE-STUDY, International journal of clinical & laboratory research, 24(1), 1994, pp. 49-53
Risultati: 1-14 |