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Results: 1-11 |
Results: 11
Cystinuria phenotyping by oral lysine and arginine loading
Authors: de Sanctis, L Bonetti, G Bruno, M De Luca, F Bisceglia, L Palacin, M Dianzani, I Ponzone, A
Citation: L. De Sanctis et al., Cystinuria phenotyping by oral lysine and arginine loading, CLIN NEPHR, 56(6), 2001, pp. 467-474
Genetic heterogeneity in five Italian regions: Analysis of PAH mutations and minihaplotypes
Authors: Giannattasio, S Dianzani, I Lattanzio, P Spada, M Romano, V Cali, F Andria, G Ponzone, A Marra, E Piazza, A
Citation: S. Giannattasio et al., Genetic heterogeneity in five Italian regions: Analysis of PAH mutations and minihaplotypes, HUMAN HERED, 52(3), 2001, pp. 154-159
Diamond-Blackfan anemia: Report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population
Authors: Ramenghi, U Campagnoli, MF Garelli, E Carando, A Brusco, A Bagnara, GP Strippoli, P Izzi, GC Brandalise, S Riccardi, R Dianzani, I
Citation: U. Ramenghi et al., Diamond-Blackfan anemia: Report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population, BL CELL M D, 26(5), 2000, pp. 417-422
Genotype-phenotype correlation in dihydropteridine reductase deficiency
Authors: de Sanctis, L Alliaudi, C Spada, M Farrugia, R Cerone, R Biasucci, G Meli, C Zammarchi, E Coskun, T Blau, N Ponzone, A Dianzani, I
Citation: L. De Sanctis et al., Genotype-phenotype correlation in dihydropteridine reductase deficiency, J INH MET D, 23(4), 2000, pp. 333-337
Clustering of distinct autoimmune diseases associated with functional abnormalities of T cell survival in children
Authors: Pignata, C Alessio, M Ramenghi, U Bonissoni, S Difranco, D Brusco, A Matrecano, E Franzese, A Dianzani, I Dianzani, U
Citation: C. Pignata et al., Clustering of distinct autoimmune diseases associated with functional abnormalities of T cell survival in children, CLIN EXP IM, 121(1), 2000, pp. 53-58
Deficiency of the Fas apoptosis pathway without Fas gene mutations is a familial trait predisposing to development of autoimmune diseases and cancer
Authors: Ramenghi, U Bonissoni, S Migliaretti, G DeFranco, S Bottarel, F Gambaruto, C DiFranco, D Priori, R Conti, F Dianzani, I Valesini, G Merletti, F Dianzani, U
Citation: U. Ramenghi et al., Deficiency of the Fas apoptosis pathway without Fas gene mutations is a familial trait predisposing to development of autoimmune diseases and cancer, BLOOD, 95(10), 2000, pp. 3176-3182
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
Authors: Sperandeo, MP Bassi, MT Riboni, M Parenti, G Buoninconti, A Manzoni, M Incerti, B Larocca, MR Di Rocco, M Strisciuglio, P Dianzani, I Parini, R Candito, M Endo, F Ballabio, A Andria, G Sebastio, G Borsani, G
Citation: Mp. Sperandeo et al., Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance, AM J HU GEN, 66(1), 2000, pp. 92-99
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
Authors: Draptchinskaia, N Gustavsson, P Andersson, B Pettersson, M Willig, TN Dianzani, I Ball, S Tchernia, G Klar, J Matsson, H Tentler, D Mohandas, N Carlsson, B Dahl, N
Citation: N. Draptchinskaia et al., The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia, NAT GENET, 21(2), 1999, pp. 169-175
Diminished expression of phosphatidylethanolamine N-methyltransferase 2 during hepatocarcinogenesis
Authors: Tessitore, L Dianzani, I Cui, Z Vance, DE
Citation: L. Tessitore et al., Diminished expression of phosphatidylethanolamine N-methyltransferase 2 during hepatocarcinogenesis, BIOCHEM J, 337, 1999, pp. 23-27
Diamond-Blackfan anaemia in the Italian population
Authors: Ramenghi, U Garelli, E Valtolina, S Campagnoli, MF Timeus, F Crescenzio, N Mair, M Varotto, S D'Avanzo, M Nobili, B Massolo, F Mori, PG Locatelli, F Gustavsson, P Dahl, N Dianzani, I
Citation: U. Ramenghi et al., Diamond-Blackfan anaemia in the Italian population, BR J HAEM, 104(4), 1999, pp. 841-848
Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: Wide variations in phenotypic expression
Authors: Willig, TN Draptchinskaia, N Dianzani, I Ball, S Niemeyer, C Ramenghi, U Orfali, K Gustavsson, P Garelli, E Brusco, A Tiemann, C Perignon, JL Bouchier, C Cicchiello, L Dahl, N Mohandas, N Tchernia, G
Citation: Tn. Willig et al., Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: Wide variations in phenotypic expression, BLOOD, 94(12), 1999, pp. 4294-4306
Risultati: 1-11 |