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Results: 1-25 | 26-30
Results: 1-25/30
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
MOLECULAR-GENETICS OF EPHAROPHIMOSIS-PTOSIS-EPICANTHUS-INVERSUS-SYNDROME (BPES) - LOCUS REFINEMENT AND EXCLUSION OF CANDIDATE GENES
Authors: BISCEGLIA L DAMBROSIO L PIEMONTESE MR CARELLA M AMATI P BONNEAU D PILIA G GASPARINI P ZELANTE L
Citation: L. Bisceglia et al., MOLECULAR-GENETICS OF EPHAROPHIMOSIS-PTOSIS-EPICANTHUS-INVERSUS-SYNDROME (BPES) - LOCUS REFINEMENT AND EXCLUSION OF CANDIDATE GENES, European journal of human genetics, 6, 1998, pp. 4111-4111
MOLECULAR-GENETICS OF OSTEOPOROSIS IN ITALY
Authors: DAGRUMA L BISCEGLIA L GASPARINI P ZELANTE L IOLASCON A IOLASCON G COLAPIETRO F FURLAN F BERTOLDO F
Citation: L. Dagruma et al., MOLECULAR-GENETICS OF OSTEOPOROSIS IN ITALY, European journal of human genetics, 6, 1998, pp. 4129-4129
CELLULAR RETINOL-BINDING PROTEIN-1 (RBP1) - A FREQUENT POLYMORPHISM, REFINED MAP POSITION AND EXCLUSION AS THE BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS-INVERSUS SYNDROME GENE
Authors: BISCEGLIA L DAMBROSIO L PIEMONTESE MR CARELLA M AMATI P BONNEAU D PILIA G GASPARINI P ZELANTE L
Citation: L. Bisceglia et al., CELLULAR RETINOL-BINDING PROTEIN-1 (RBP1) - A FREQUENT POLYMORPHISM, REFINED MAP POSITION AND EXCLUSION AS THE BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS-INVERSUS SYNDROME GENE, Molecular and cellular probes, 12(4), 1998, pp. 255-258
POLYMORPHISM OF MOTILIN GENE IN PATIENTS WITH CROHNS-DISEASE
Authors: ANNESE V PIEPOLI A ANDRIULLI A NAPOLITANO G BISCEGLIA L ZELANTE L GASPARINI P
Citation: V. Annese et al., POLYMORPHISM OF MOTILIN GENE IN PATIENTS WITH CROHNS-DISEASE, Digestive diseases and sciences, 43(4), 1998, pp. 715-719
INTERFAMILIAL AND INTRAFAMILIAL CLINICAL VARIABILITY IN PATIENTS WITHCYSTINURIA TYPE-I AND IDENTIFIED MUTATION
Authors: DELLOSTROLOGO L CARBONARI D GALLUCCI M GASPARINI P BISCEGLIA L ZELANTE L ROSAUD F NUNES V PALACIN M RIZZONI G
Citation: L. Dellostrologo et al., INTERFAMILIAL AND INTRAFAMILIAL CLINICAL VARIABILITY IN PATIENTS WITHCYSTINURIA TYPE-I AND IDENTIFIED MUTATION, Journal of the American Society of Nephrology, 8, 1997, pp. 1793-1793
A YAC CONTIG SPANNING THE BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUSSYNDROME AND PROPIONIC ACIDEMIA LOCI
Authors: PIEMONTESE MR MEMEO E CARELLA M AMATI P CHOMEL JC BONNEAU D PILIA G CAO A DRABKIN H GEMMILL R ROMMENS J ZELANTE L GASPARINI P BISCEGLIA L
Citation: Mr. Piemontese et al., A YAC CONTIG SPANNING THE BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUSSYNDROME AND PROPIONIC ACIDEMIA LOCI, European journal of human genetics, 5(3), 1997, pp. 171-174
RECENT DATA ON CYSTINURIA
Authors: RIZZONI G DELLOSTROLOGO L GASPARINI P ZELANTE L BISCEGLIA L NUNES V PALACIN M
Citation: G. Rizzoni et al., RECENT DATA ON CYSTINURIA, Annales de pediatrie, 44(10), 1997, pp. 688-691
DETECTION OF DYSTROPHIN DELETION CARRIERS USING FISH ANALYSIS
Authors: CALVANO S MEMEO E PIEMONTESE MR MELCHIONDA S BISCEGLIA L GASPARINI P ZELANTE L
Citation: S. Calvano et al., DETECTION OF DYSTROPHIN DELETION CARRIERS USING FISH ANALYSIS, Clinical genetics, 52(1), 1997, pp. 17-22
HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME CAUSED BY A 29-BASE PAIR DELETION IN THE IRON-RESPONSIVE ELEMENT OF FERRITIN L-SUBUNIT GENE
Authors: GIRELLI D CORROCHER R BISCEGLIA L OLIVIERI O ZELANTE L PANOZZO G GASPARINI P
Citation: D. Girelli et al., HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME CAUSED BY A 29-BASE PAIR DELETION IN THE IRON-RESPONSIVE ELEMENT OF FERRITIN L-SUBUNIT GENE, Blood, 90(5), 1997, pp. 2084-2088
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
ASSIGNMENT OF FERRITIN L GENE (FTL) TO HUMAN-CHROMOSOME BAND 19Q13.3 BY IN-SITU HYBRIDIZATION
Authors: GASPARINI P CALVANO S MEMEO E BISCEGLIA L ZELANTE L
Citation: P. Gasparini et al., ASSIGNMENT OF FERRITIN L GENE (FTL) TO HUMAN-CHROMOSOME BAND 19Q13.3 BY IN-SITU HYBRIDIZATION, Annales de genetique, 40(4), 1997, pp. 227-228
LOCALIZATION, BY LINKAGE ANALYSIS, OF THE CYSTINURIA TYPE-III GENE TOCHROMOSOME 19Q13.1
Authors: BISCEGLIA L CALONGE MJ TOTARO A FELIUBADALO L MELCHIONDA S GARCIA J TESTAR X GALLUCCI M PONZONE A ZELANTE L ZORZANO A ESTIVILL X GASPARINI P NUNES V PALACIN M
Citation: L. Bisceglia et al., LOCALIZATION, BY LINKAGE ANALYSIS, OF THE CYSTINURIA TYPE-III GENE TOCHROMOSOME 19Q13.1, American journal of human genetics, 60(3), 1997, pp. 611-616
THE MOLECULAR-BASIS OF CYSTINURIA - THE ROLE OF THE RBAT GENE
Authors: PALACIN M MORA C CHILLARON J CALONGE MJ ESTEVEZ R TORRENTS D TESTAR X ZORZANO A NUNES V PURROY J ESTIVILL X GASPARINI P BISCEGLIA L ZELANTE L
Citation: M. Palacin et al., THE MOLECULAR-BASIS OF CYSTINURIA - THE ROLE OF THE RBAT GENE, Amino acids, 11(2), 1996, pp. 225-246
GENOMIC STRUCTURE AND ORGANIZATION OF THE HUMAN RBAT GENE (SLC3A1)
Authors: PURROY J BISCEGLIA L CALONGE MJ ZELANTE L TESTAR X ZORZANO A ESTIVILL X PALACIN M NUNES V GASPARINI P
Citation: J. Purroy et al., GENOMIC STRUCTURE AND ORGANIZATION OF THE HUMAN RBAT GENE (SLC3A1), Genomics, 37(2), 1996, pp. 249-252
MOLECULAR ANALYSIS OF THE CYSTINURIA DISEASE GENE - IDENTIFICATION OF4 NEW MUTATIONS, ONE LARGE DELETION, AND ONE POLYMORPHISM
Authors: BISCEGLIA L CALONGE MJ DELLOSTROLOGO L RIZZONI G DESANCTIS L GALLUCCI M BECCIA E TESTAR X ZORZANO A ESTIVILL X ZELANTE L PALACIN M GASPARINI P NUNES V
Citation: L. Bisceglia et al., MOLECULAR ANALYSIS OF THE CYSTINURIA DISEASE GENE - IDENTIFICATION OF4 NEW MUTATIONS, ONE LARGE DELETION, AND ONE POLYMORPHISM, Human genetics, 98(4), 1996, pp. 447-451
PHENOTYPE CHARACTERIZATION AND PREVALENCE OF RBAT M467T MUTATION IN ITALIAN CYSTINURIC PATIENTS
Authors: DESANCTIS L BRUNO M BONETTI G COSSEDDU D BISCEGLIA L PONZONE A DIANZANI J
Citation: L. Desanctis et al., PHENOTYPE CHARACTERIZATION AND PREVALENCE OF RBAT M467T MUTATION IN ITALIAN CYSTINURIC PATIENTS, Journal of inherited metabolic disease, 19(2), 1996, pp. 243-245
MOTILIN GENE HETEROGENEITY IN INFLAMMATORY BOWEL-DISEASE
Authors: PIEPOLI A BISCEGLIA L GASPARINI P ANNESE V LOMBARDI G ZELANTE L ANDRIULLI A
Citation: A. Piepoli et al., MOTILIN GENE HETEROGENEITY IN INFLAMMATORY BOWEL-DISEASE, Gastroenterology, 110(4), 1996, pp. 991-991
HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME DUE TO A 29 BP DELETION IN THE IRON-RESPONSIVE ELEMENT OF L-FERRITIN GENE
Authors: GIRELLI D CORROCHER R BISCEGLIA L OLIVIERI O ZELANTE L PANOZZO G GASPARINI P
Citation: D. Girelli et al., HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME DUE TO A 29 BP DELETION IN THE IRON-RESPONSIVE ELEMENT OF L-FERRITIN GENE, Blood, 88(10), 1996, pp. 1945-1945
MOLECULAR SCREENING OF GENETIC-DEFECTS WITH RNA-SSCP ANALYSIS - THE PKU AND CYSTINURIA MODEL
Authors: GIANNATTASIO S BISCEGLIA L LATTANZIO P GRIFA A DIANZANI I GASPARINI P MARRA E
Citation: S. Giannattasio et al., MOLECULAR SCREENING OF GENETIC-DEFECTS WITH RNA-SSCP ANALYSIS - THE PKU AND CYSTINURIA MODEL, Molecular and cellular probes, 9(3), 1995, pp. 201-205
HOMOZYGOSITY FOR A NOVEL SPLICE-SITE MUTATION (2790-2 A-]G) PRECEDINGEXON-15 OF THE CFTR GENE IN A CYSTIC-FIBROSIS PATIENT OF NORTHEAST ITALIAN DESCENT
Authors: MARIGO C BOMBIERI C BISCEGLIA L ZELANTE L GASPARINI P PIGNATTI PF
Citation: C. Marigo et al., HOMOZYGOSITY FOR A NOVEL SPLICE-SITE MUTATION (2790-2 A-]G) PRECEDINGEXON-15 OF THE CFTR GENE IN A CYSTIC-FIBROSIS PATIENT OF NORTHEAST ITALIAN DESCENT, Molecular and cellular probes, 9(2), 1995, pp. 139-141
ANALYSIS OF THE COMPLETE CODING REGION OF THE CFTR GENE IN A COHORT OF CF PATIENTS FROM NORTH-EASTERN ITALY - IDENTIFICATION OF 90-PERCENT OF THE MUTATIONS
Authors: BONIZZATO A BISCEGLIA L MARIGO C NICOLIS E BOMBIERI C CASTELLANI C BORGO G ZELANTE L MASTELLA G CABRINI G GASPARINI P PIGNATTI PF
Citation: A. Bonizzato et al., ANALYSIS OF THE COMPLETE CODING REGION OF THE CFTR GENE IN A COHORT OF CF PATIENTS FROM NORTH-EASTERN ITALY - IDENTIFICATION OF 90-PERCENT OF THE MUTATIONS, Human genetics, 95(4), 1995, pp. 397-402
STABILITY AND FUNCTIONAL EFFECTIVENESS OF PHOSPHOROTHIOATE MODIFIED DUPLEX DNA AND SYNTHETIC MINI-GENES
Authors: CIAFRE SA RINALDI M GASPARINI P SERIPA D BISCEGLIA L ZELANTE L FARACE MG FAZIO VM
Citation: Sa. Ciafre et al., STABILITY AND FUNCTIONAL EFFECTIVENESS OF PHOSPHOROTHIOATE MODIFIED DUPLEX DNA AND SYNTHETIC MINI-GENES, Nucleic acids research, 23(20), 1995, pp. 4134-4142
GENETIC-HETEROGENEITY IN CYSTINURIA - THE SLC3A1 GENE IS LINKED TO TYPE-I BUT NOT TO TYPE-III CYSTINURIA
Authors: CALONGE MJ VOLPINI V BISCEGLIA L ROUSAUD F DESANCTIS L BECCIA E ZELANTE L TESTAR X ZORZANO A ESTIVILL X GASPARINI P NUNES V PALACIN M
Citation: Mj. Calonge et al., GENETIC-HETEROGENEITY IN CYSTINURIA - THE SLC3A1 GENE IS LINKED TO TYPE-I BUT NOT TO TYPE-III CYSTINURIA, Proceedings of the National Academy of Sciences of the United Statesof America, 92(21), 1995, pp. 9667-9671
MOLECULAR-BASIS FOR THE RECENTLY DESCRIBED HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME - A MUTATION IN THE IRON-RESPONSIVE ELEMENT OF FERRITIN L-SUBUNIT GENE (THE VERONA MUTATION)
Authors: GIRELLI D CORROCHER R BISCEGLIA L OLIVIERI O DEFRANCESCHI L ZELANTE L GASPARINI P
Citation: D. Girelli et al., MOLECULAR-BASIS FOR THE RECENTLY DESCRIBED HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME - A MUTATION IN THE IRON-RESPONSIVE ELEMENT OF FERRITIN L-SUBUNIT GENE (THE VERONA MUTATION), Blood, 86(11), 1995, pp. 4050-4053
Risultati: 1-25 | 26-30