Search Results - "Fattore, S."

A pilot study of factors associated with glycaemic control in adults with Type 1 diabetes mellitus on insulin pump therapy by Wen, W., Frampton, R., Wright, K., Fattore, S., Shadbolt, B., Perampalam, S.

“…Aims To identify the knowledge and management factors associated with glycaemic control among adults with Type 1 diabetes mellitus treated with insulin pump…”
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Genetic interactions in thalassemia intermedia: analysis of beta-mutations, alpha-genotype, gamma-promoters, and beta-LCR hypersensitive sites 2 and 4 in Italian patients by Camaschella, C, Mazza, U, Roetto, A, Gottardi, E, Parziale, A, Travi, M, Fattore, S, Bacchiega, D, Fiorelli, G, Cappellini, M D

“…In order to verify the genetic factors influencing the clinical expression of beta-thalassemia we have studied 292 Italian patients, 165 with thalassemia…”
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First-trimester fetal screening of cystic fibrosis in low-risk population by Brambati, B, Tului, L, Fattore, S

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A homozygous missense arginine to histidine substitution at position 482 of the β-galactosidase in an Italian infantile GM1-gangliosidosis patient by MOSNA, G, FATTORE, S, TUBIELLO, G, BROCCA, S, TRUBIA, M, GIANAZZA, E, GATTI, R, DANESINO, C, MINELLI, A, PIANTANIDA, M

“…We have studied, by the polymerase chain reaction, the beta-galactosidase cDNA from several Italian patients with infantile GM1-gangliosidosis. One homozygote…”
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Homozygous beta-thalassaemia resulting in the beta-thalassaemia carrier state phenotype by Rosatelli, M C, Pischedda, A, Meloni, A, Saba, L, Pomo, A, Travi, M, Fattore, S, Cao, A

“…This paper describes the phenotypic manifestations of a very mild beta-thalassaemia mutation detected in several members of two families of Italian descent…”
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A homozygous missense arginine to histidine substitution at position 482 of the ?-galactosidase in an Italian infantile GM1-gangliosidosis patient by Mosna, G., Fattore, S., Tubiello, G., Brocca, S., Trubia, M., Gianazza, E., Gatti, R., Danesino, C., Minelli, A., Piantanida, M.

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Temperature-programmed capillary electrophoresis for the analysis of high-melting point mutants in thalassemias by Gelfi, C, Righetti, P G, Travi, M, Fattore, S

“…The behavior of different sieving polymers for unambiguous determination of point mutations in genomic DNA, based on electrophoresis in thin capillaries, is…”
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