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congenital adrenal hyperplasia

13

"CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants" (2018) Simonetti, L.;Bruque, C.D.;Fernández, C.S. (...)Dain, L. Human Mutation. 39(1):5-22

"CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants" (2018) Simonetti, L.;Bruque, C.D.;Fernández, C.S. (...)Dain, L. Human Mutation. 39(1):5-22

"Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations" (2016) Bruque, C.D.;Delea, M.;Fernández, C.S. (...)Dain, L. Scientific Reports. 6

"A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. New insight into the structurefunction relationships of 3βhydroxysteroid dehidrogenase type II" (2015) Baquedano, M.S.;Ciaccio, M.;Marino, R. (...)Belgorosky, A. Journal of Clinical Endocrinology and Metabolism. 100(1):E191-E196

"A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. New insight into the structurefunction relationships of 3βhydroxysteroid dehidrogenase type II" (2015) Baquedano, M.S.;Ciaccio, M.;Marino, R. (...)Belgorosky, A. Journal of Clinical Endocrinology and Metabolism. 100(1):E191-E196

"A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. new insight into the structure-function relationships of 3β-hydroxysteroid dehidrogenase type II" (2015) Baquedano, M.S.;Ciaccio, M.;Marino, R. (...)Belgorosky, A. The Journal of clinical endocrinology and metabolism. 100(1):E191-E196

"Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene" (2014) Taboas, M.;Gómez Acuña, L.;Scaia, M.F. (...)Dain, L. PLoS ONE. 9(3)

"Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene" (2014) Taboas, M.;Gómez Acuña, L.;Scaia, M.F. (...)Dain, L. PLoS ONE. 9(3)

"Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients" (2011) Minutolo, C.;Nadra, A.D.;Fernández, C. (...)Dain, L. PLoS ONE. 6(1)

"Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients" (2011) Minutolo, C.;Nadra, A.D.;Fernández, C. (...)Dain, L. PLoS ONE. 6(1)

"Congenital adrenal hyperplasia. Clinical characteristics and genotype in newborn, childhood and adolescence " (2007) Pasqualini, T.;Alonso, G.;Tomasini, R. (...)Dain, L. Medicina. 67(3):253-261

"Congenital adrenal hyperplasia. Clinical characteristics and genotype in newborn, childhood and adolescence " (2007) Pasqualini, T.;Alonso, G.;Tomasini, R. (...)Dain, L. Medicina. 67(3):253-261

"Classical and nonclassical 21-hydroxylase deficiency: A molecular study of Argentine patients" (2002) Dain, L.B.;Buzzalino, N.D.;Oneto, A. (...)Alba, L.G. Clinical Endocrinology. 56(2):239-245

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