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Results: 1-12 |
Results: 12
Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12
Authors: Pirulli, D Puzzer, D De Fusco, M Crovella, S Amoroso, A Scolari, F Viola, BF Maiorca, R Caridi, G Savoldi, S Ghiggeri, G Casari, G
Citation: D. Pirulli et al., Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12, J NEPHROL, 14(5), 2001, pp. 392-396
AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria
Authors: Amoroso, A Pirulli, D Florian, F Puzzer, D Boniotto, M Crovella, S Zezlina, S Spano, A Mazzola, G Savoldi, S Ferrettini, C Berutti, S Petrarulo, M Marangella, M
Citation: A. Amoroso et al., AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria, J AM S NEPH, 12(10), 2001, pp. 2072-2079
Polymorphisms in the promoter region and at codon 54 of the MBL2 gene are not associated with IgA nephropathy
Authors: Pirulli, D Boniotto, M Vatta, L Crovella, S Spano, A Morgutti, M Zezlina, S Bertola, L Roccatello, D Scolari, F Peruzzi, L Savoldi, S Amoroso, A
Citation: D. Pirulli et al., Polymorphisms in the promoter region and at codon 54 of the MBL2 gene are not associated with IgA nephropathy, NEPH DIAL T, 16(4), 2001, pp. 759-764
ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene
Authors: Mase, G Ros, S Gemma, A Bonfigli, L Carraro, N Cazzato, G Rolfo, M Zanconati, F Sepcic, J Jurjevic, A Pirulli, D Boniotto, M Zezlina, S Crovella, S Amoroso, A
Citation: G. Mase et al., ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene, J NEUR SCI, 191(1-2), 2001, pp. 11-18
Effects of cAMP on intercellular coupling and osteoblast differentiation
Authors: Romanello, M Moro, L Pirulli, D Crovella, S D'Andrea, P
Citation: M. Romanello et al., Effects of cAMP on intercellular coupling and osteoblast differentiation, BIOC BIOP R, 282(5), 2001, pp. 1138-1144
Single tube melting temperature assay for rapid and sensitive detection ofthe most frequent hemocromatosis mutations, C282Y and H63D
Authors: Marziliano, N Bevilacqua, E Pirulli, D Spano, A Amoroso, A Crovella, S
Citation: N. Marziliano et al., Single tube melting temperature assay for rapid and sensitive detection ofthe most frequent hemocromatosis mutations, C282Y and H63D, HAEMATOLOG, 85(9), 2000, pp. 990-991
Flexibility of melting temperature assay for rapid detection of insertions, deletions, and single-point mutations of the AGXT gene responsible for type 1 primary hyperoxaluria
Authors: Pirulli, D Boniotto, M Puzzer, D Spano, A Amoroso, A Crovella, S
Citation: D. Pirulli et al., Flexibility of melting temperature assay for rapid detection of insertions, deletions, and single-point mutations of the AGXT gene responsible for type 1 primary hyperoxaluria, CLIN CHEM, 46(11), 2000, pp. 1842-1844
Rapid method for detection of extra (TA) in the promoter of the bilirubin-UDP-glucuronosyl transferase 1 gene associated with Gilbert syndrome
Authors: Pirulli, D Giordano, M Puzzer, D Crovella, S Rigato, I Tiribelli, C Momigliano-Richiardi, P Amoroso, A
Citation: D. Pirulli et al., Rapid method for detection of extra (TA) in the promoter of the bilirubin-UDP-glucuronosyl transferase 1 gene associated with Gilbert syndrome, CLIN CHEM, 46(1), 2000, pp. 129-131
Detection of MRP1 mRNA in human tumors and tumor cell lines by in situ RT-PCR
Authors: Pascolo, L Fernetti, C Pirulli, D Bogoni, S Garcia-Mediavilla, MV Spano, A Puzzer, D Tiribelli, C Amoroso, A Crovella, S
Citation: L. Pascolo et al., Detection of MRP1 mRNA in human tumors and tumor cell lines by in situ RT-PCR, BIOC BIOP R, 275(2), 2000, pp. 466-471
Fluorescent in situ PCR allows sensitive three hours detection of human papilloma virus in cells and tissues
Authors: Marziliano, N Mancuso, T Comar, M Cernigoi, E Da Prato, L Garagna, S Boniotto, M Pirulli, D Puzzer, D Morgutti, M Amoroso, A Crovella, S
Citation: N. Marziliano et al., Fluorescent in situ PCR allows sensitive three hours detection of human papilloma virus in cells and tissues, EUR J HIST, 43(2), 1999, pp. 155-157
Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene
Authors: Pirulli, D Puzzer, D Ferri, L Crovella, S Amoroso, A Ferrettini, C Marangella, M Mazzola, G Florian, F
Citation: D. Pirulli et al., Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene, HUM GENET, 104(6), 1999, pp. 523-525
Gene symbol: AGXT - Disease: Primary hyperoxaluria type I
Authors: Amoroso, A Pirulli, D Puzzer, D Ferri, L Crovella, S Ferrettini, C Marangella, M Mazzola, G Florian, F
Citation: A. Amoroso et al., Gene symbol: AGXT - Disease: Primary hyperoxaluria type I, HUM GENET, 104(5), 1999, pp. 441-441
Risultati: 1-12 |