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Localization of a structural defect in type I procollagen in a patient affected with the severe non-lethal form of Osteogenesis imperfecta. 1-gen-1987 Dyne, KATHARINE MARY; Cetta, Giuseppe; Tenni, Ruggero; Rossi, Antonio; Finardi, E; Brunelli, Pc; Castellani, Alessandro
Effect of the triterpenoid fraction of Centella asiatica on macromolecules of the connective matrix in human skin fibroblast cultures. 1-gen-1988 Tenni, Ruggero; Zanaboni, Giuseppe; De Agostini, Mp; Rossi, Antonio; Bendotti, C; Cetta, Giuseppe
Type I procollagen in the severe non-lethal form of osteogenesis imperfecta. Defective pro-alpha 1(I) chains in a patient with abnormal proteoglycan metabolism and mineral deposits in the dermis. 1-gen-1988 Tenni, Ruggero; Cetta, Giuseppe; Dyne, KATHARINE MARY; Rossi, Antonio; Quacci, D; Lenzi, L; Castellani, Alessandro
Anomalous cysteine in type I collagen. Localisation by chemical cleavage of the protein using 2-nitro-5-thiocyanobenzoic acid and by mismatch analysis of cDNA heteroduplexes. 1-gen-1990 Tenni, Ruggero; Rossi, Antonio; Valli, Maurizia; Mottes, M; Pignatti, Pf; Cetta, Giuseppe
Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfecta. 1-gen-1991 Tenni, Ruggero; Biglino, P; Dyne, KATHARINE MARY; Rossi, Antonio; Filocamo, M; Pendola, F; Brunelli, P; Buttitta, P; Borrone, C; Cetta, Giuseppe
A de novo G to T transversion in a pro-a1(I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain. 1-gen-1991 Valli, Maurizia; M., Mottes; Tenni, Ruggero; A., Sangalli; M., Gomez Lyra; Rossi, Antonio; F., Antoniazzi; Cetta, Giuseppe; P. F., Pignatti
Osteogenesis imperfecta and type I collagen mutations. A lethal variant caused by a Gly910->Ala substitution in the a1(I) chain. 1-gen-1993 Valli, Maurizia; A., Sangalli; Rossi, Antonio; M., Mottes; Forlino, Antonella; Tenni, Ruggero; P. F., Pignatti; Cetta, Giuseppe
Extracellular matrix deposition in cultured dermal fibroblasts from four probands affected by osteogenesis imperfecta. 1-gen-1993 Valli, Maurizia; Rossi, Antonio; Forlino, Antonella; Tenni, Ruggero; Cetta, Giuseppe
Possible role of overglycosylation in the type I collagen triple helical domain in the molecular pathogenesis of osteogenesis imperfecta. 1-gen-1993 Tenni, Ruggero; Valli, Maurizia; Rossi, Antonio; Cetta, Giuseppe
Deposition of mutant type I collagen in the extracellular matrix of cultured dermal fibroblasts in osteogenesis imperfecta. 1-gen-1993 Cetta, Giuseppe; Rossi, Antonio; Tenni, Ruggero; Valli, Maurizia; Forlino, Antonella; Zanaboni, Giuseppe; Dyne, KATHARINE MARY; R., Burgio
Genetic variants of human serum albumin in Italy: point mutants and a carboxyl-terminal variant. 1-gen-1994 Madison, J; Galliano, Monica; Watkins, S; Minchiotti, Lorenzo; Porta, F; Rossi, Antonio; Putnam, F. W.
Prolidase deficiency: biochemical study of erythrocyte and skin fibroblast prolidase activity in Italian patients. 1-gen-1994 Zanaboni, G; Dyne, Km; Rossi, Antonio; Monafo, V; Cetta, Giuseppe
Genetic variants of human serum albumin: molecular defects and biological stability. 1-gen-1995 Galliano, Monica; Rossi, Antonio; Porta, F; Minchiotti, Lorenzo
Achondrogenesis type 1B is caused by mutations in the diastrophic dysplasia sulfate transporter gene 1-gen-1996 SUPERTI FURGA, A.; Hastbacka, J.; Wilcox, W. R.; Cohn, D. H.; VAN DER HARTEN, H. J.; Rossi, Antonio; Blau, N.; Rimoin, D. L.; Steinmann, B.; Lander, E. S.; Gitzelamann, R.
Use of capillary zone electrophoresis for analysis of imidodipeptides in urine of prolidase-deficient patients. 1-gen-1996 Zanaboni, G; Grimm, R; Dyne, Km; Rossi, Antonio; Cetta, Giuseppe; Iadarola, Paolo
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. 1-gen-1996 Rossi, Antonio; VAN DER HARTEN, H. J.; Beemer, F. A.; Kleijer, W. J.; Gitzelmann, R.; Steinmann, B.; SUPERTI FURGA, A.
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for a Leu483Pro substitution in the diastrophic dysplasia sulfate transporter 1-gen-1996 Rossi, Antonio; Bonaventure, J.; Delezoide, A. L.; Cetta, Giuseppe; SUPERTI FURGA, A.
A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans. 1-gen-1996 Superti Furga, A; Hästbacka, J; Rossi, Antonio; van der Harten, Jj; Wilcox, Wr; Cohn, Dh; Rimoin, Dl; Steinmann, B; Lander, Es; Gitzelmann, R.
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations 1-gen-1996 SUPERTI FURGA, A.; Rossi, Antonio; Steinmann, B.; Gitzelmann, R.
Type I collagen CNBr peptides: species and behavior in solution 1-gen-1996 Rossi, Antonio; VITELLARO ZUCCARELLO, L.; Zanaboni, G.; Monzani, Enrico; Dyne, K. M.; Cetta, Giuseppe; Tenni, Ruggero
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