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Results: 1-14 |
Results: 14
3 NOVEL MUTATIONS OF THE PKD1 GENE IN ITALIAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE
Authors: TURCO AE ROSSETTI S BRESIN E ENGLISCH S CORRA S PIGNATTI PF
Citation: Ae. Turco et al., 3 NOVEL MUTATIONS OF THE PKD1 GENE IN ITALIAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE, Human mutation, 10(2), 1997, pp. 164-167
ACE GENE POLYMORPHISM AND CLINICAL AND MORPHOLOGICAL CORRELATIONS IN PATIENTS (P.) WITH IGA NEPHROPATHY (IGAN)
Authors: LUPO A MARCANTONI C OLDRIZZI L BRESIN E MASCHIO G
Citation: A. Lupo et al., ACE GENE POLYMORPHISM AND CLINICAL AND MORPHOLOGICAL CORRELATIONS IN PATIENTS (P.) WITH IGA NEPHROPATHY (IGAN), Journal of the American Society of Nephrology, 8, 1997, pp. 440-440
MOLECULAR DNA-BASED DIAGNOSTICS IN A LARGE SERIES OF EUROPEAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) - AN UPDATE
Authors: TURCO AE BRESIN E SOLI F ROSSETTI S GAMMARO L OLDRIZZI L MASCHIO G PIGNATTI PF TESSITORE N
Citation: Ae. Turco et al., MOLECULAR DNA-BASED DIAGNOSTICS IN A LARGE SERIES OF EUROPEAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) - AN UPDATE, Journal of the American Society of Nephrology, 8, 1997, pp. 1767-1767
DETECTION OF MUTATIONS IN HUMAN GENES BY A NEW RAPID METHOD - CLEAVAGE FRAGMENT LENGTH POLYMORPHISM ANALYSIS (CFLPA)
Authors: ROSSETTI S ENGLISCH S BRESIN E PIGNATTI PF TURCO AE
Citation: S. Rossetti et al., DETECTION OF MUTATIONS IN HUMAN GENES BY A NEW RAPID METHOD - CLEAVAGE FRAGMENT LENGTH POLYMORPHISM ANALYSIS (CFLPA), Molecular and cellular probes, 11(2), 1997, pp. 155-160
RAPID DNA-BASED PRENATAL-DIAGNOSIS BY GENETIC-LINKAGE IN 3 FAMILIES WITH ALPORTS-SYNDROME
Authors: TURCO AE BRESIN E ROSSETTI S PETERLIN B MORANDI R PIGNATTI PF
Citation: Ae. Turco et al., RAPID DNA-BASED PRENATAL-DIAGNOSIS BY GENETIC-LINKAGE IN 3 FAMILIES WITH ALPORTS-SYNDROME, American journal of kidney diseases, 30(2), 1997, pp. 174-179
GENETIC-COUNSELING, DNA-BASED INVESTIGATIONS AND PRESYMPTOMATIC MOLECULAR DIAGNOSIS IN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) AND ALPORT-SYNDROME (AS) - AN UPDATE FROM THE EXPERIENCE IN VERONA, ITALY
Authors: TURCO AE BRESIN E SOLI F ROSSETTI S GAMMARO L MASCHIO G PIGNATTI PF
Citation: Ae. Turco et al., GENETIC-COUNSELING, DNA-BASED INVESTIGATIONS AND PRESYMPTOMATIC MOLECULAR DIAGNOSIS IN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) AND ALPORT-SYNDROME (AS) - AN UPDATE FROM THE EXPERIENCE IN VERONA, ITALY, American journal of human genetics, 61(4), 1997, pp. 1111-1111
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
A COMMON POLYMORPHISM IN EXON-46 OF THE HUMAN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE-1 GENE (PKD1)
Authors: BRESIN E ROSSETTI S ENGLISCH S CORRA S PIGNATTI PF TURCO AE
Citation: E. Bresin et al., A COMMON POLYMORPHISM IN EXON-46 OF THE HUMAN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE-1 GENE (PKD1), Molecular and cellular probes, 10(6), 1996, pp. 463-465
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
A NOVEL NONSENSE MUTATION IN THE PKD1 GENE (C3817T) IS ASSOCIATED WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN A LARGE 3-GENERATION ITALIAN FAMILY
Authors: TURCO AE ROSSETTI S BRESIN E CORRA S GAMMARO L MASCHIO G PIGNATTI PF
Citation: Ae. Turco et al., A NOVEL NONSENSE MUTATION IN THE PKD1 GENE (C3817T) IS ASSOCIATED WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN A LARGE 3-GENERATION ITALIAN FAMILY, Human molecular genetics, 4(8), 1995, pp. 1331-1335
ERRONEOUS GENETIC RISK ASSESSMENT OF ALPORT SYNDROME
Authors: TURCO AE ROSSETTI S BRESIN E CORRA S
Citation: Ae. Turco et al., ERRONEOUS GENETIC RISK ASSESSMENT OF ALPORT SYNDROME, Lancet, 346(8984), 1995, pp. 1237-1237
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
A NEW DISEASE-CAUSING MUTATION IN THE GAP-RELATED DOMAIN OF THE NF1 GENE
Authors: ANGLANI F MURGIA A BEDIN S BRESIN E BERNARDI F CLEMENTI M TENCONI R
Citation: F. Anglani et al., A NEW DISEASE-CAUSING MUTATION IN THE GAP-RELATED DOMAIN OF THE NF1 GENE, Human molecular genetics, 2(7), 1993, pp. 1057-1059
MUTATIONAL ANALYSIS OF THE MOST HIGHLY CONSERVED REGIONS OF THE NF1 GAP-RELATED DOMAIN
Authors: MURGIA A ANGLANI F VINANZI C BRESIN E BASSO G TENCONI R GIANGASPERO F PERILONGO G ZACCHELLO F
Citation: A. Murgia et al., MUTATIONAL ANALYSIS OF THE MOST HIGHLY CONSERVED REGIONS OF THE NF1 GAP-RELATED DOMAIN, American journal of human genetics, 53(3), 1993, pp. 333-333
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