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A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes
ArticleAbstract: Design, Setting, and Participants: Genomic DNA samples (15 affected and 26 unaffected from a six-genPalabras claves:Autores:Andres Zurita, Andrew S., Carolina Guevara, Dauber A., Geng J., Guo M., Hwa V., Jaime Guevara-Aguirre, Kerns S.L., Marco Guevara-Aguirre, Oddoux C., Ostrer H., Rosenfeld R.G., Shen Y.Fuentes:scopusBranding of subjects affected with genetic syndromes of severe short stature in developing countries
ArticleAbstract: In Ecuador, a developing South American country, subjects affected with genetic syndromes of severePalabras claves:Endocrinology, Ethics, GeneticsAutores:Antonio Wenceslao Danilo Gavilanes, Carolina Guevara, Guevara A., Jaime Guevara-AguirreFuentes:scopusDiverse growth hormone receptor gene mutations in Laron syndrome
ArticleAbstract: To better understand the molecular genetic basis and genetic epidemiology of Laron syndrome (growth-Palabras claves:Autores:Argente J., Berg M.A., Chernausek S., Francke U., Gracia R., Hopp M., Jaime Guevara-Aguirre, Pérez‐Jurado L., Rosenbloom A.L., Toledo S.Fuentes:scopusEffects of heterozygosity for the E180 splice mutation causing growth hormone receptor deficiency in Ecuador on IGF-I, IGFBP-3, and stature
ArticleAbstract: Context & objective: The Ecuadorian GH receptor deficiency (GHRD)/Laron syndrome population is the oPalabras claves:GH receptor deficiency, growth, IGF-I, IGFBP-3, Laron syndromeAutores:Baumbach L., Jaime Guevara-Aguirre, Marco Guevara-Aguirre, Rosenbloom A.L., Saavedra J., Shuster J., Yariz K.Fuentes:scopusGrowth Hormone (GH) insensitivity and insulin-like growth factor-I deficiency in inuit subjects and an ecuadorian cohort: Functional studies of two codon 180 GH receptor gene mutations (Journal of Clinical Endocrinology and Metabolism (2008) 93, (1030-1037))
OtherAbstract:Palabras claves:Autores:Fang P., Girgis R., Hwa V., Jaime Guevara-Aguirre, Little B., Pratt K.L., Rosenfeld R.G.Fuentes:scopusGrowth hormone receptor deficiency (Laron syndrome): Clinical and genetic characteristics
Conference ObjectAbstract: Approximately 60 cases of GHRD (Laron syndrome) were reported before 1990 and half of these were froPalabras claves:Autores:De la Vega A., Diamond F.B., Fielder P.J., Jaime Guevara-Aguirre, Rosenbloom A.L., Rosenfeld R.G., Vaccarello M.A.Fuentes:scopusIGF-I deficiency and enhanced insulin sensitivity due to a mutated growth hormone receptor gene in humans
ReviewAbstract: Human size is achieved by the coordinated expression of many genes. From conception to adulthood, aPalabras claves:Autores:Antonio Wenceslao Danilo Gavilanes, Camila Bautista, CARLOS TORRES, Gabriela Peña, Guevara A., Jaime Guevara-Aguirre, María PalaciosFuentes:scopusInsights from the clinical phenotype of subjects with Laron syndrome in Ecuador
ReviewAbstract: The Ecuadorian cohort of subjects with LS has taught us valuable lessons since the late 80’s. We havPalabras claves:Diabetes-cancer-insulin-IGFI-Ecuadorian Laron syndromeAutores:Antonio Wenceslao Danilo Gavilanes, Camila Bautista, CARLOS TORRES, Carolina Guevara, Cristina Palacios, Gabriela Peña, Guevara A., Jaime Guevara-AguirreFuentes:scopusIs there heterozygote expression of growth hormone receptor deficiency?
ArticleAbstract: Expression of heterozygosity for the defect in the growth hormone (GH) receptor has been proposed toPalabras claves:growth hormone binding protein, Growth hormone receptor, Growth hormone receptor deficiency, heterozygote expression, insulin‐like growth factor I, Laron syndromeAutores:Fielder P.J., Jaime Guevara-Aguirre, Rosenbloom A.L., Rosenfeld R.G.Fuentes:scopusReceptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient
ArticleAbstract: Eight different mutations were detected in the growth hormone (GH) receptor gene of patients with inPalabras claves:carrier detection test, growth hormone insensiiivity, growth hormone receptor defects, Laron syndrome, mechanisms of mutation, MnlI restriction enzymeAutores:Berg M., Francke U., Jaime Guevara-Aguirre, Laron Z., Milner R., Peoples R., Pérez‐Jurado L., Rosenbloom A.L.Fuentes:scopus