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Growth Hormone and IGF Research(1)
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scopus(9)
Diverse 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:scopusMutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome
ArticleAbstract: Laron syndrome is an autosomal recessive condition characterized by resistance to growth hormone. WePalabras claves:Growth hormone receptor, Laron dwarfism, mutation, RNA splicingAutores:Berg M.A., Francke U., Jaime Guevara-Aguirre, Rosenbloom A.L., Rosenfeld R.G.Fuentes:scopusNormal intelligence with severe insulin-like growth factor I deficiency due to growth hormone receptor deficiency: A controlled study in a genetically homogeneous population
ArticleAbstract: Superior school performance was reported for 52 Ecuadorian probands with severe deficiency of insuliPalabras claves:Autores:Jaime Guevara-Aguirre, Kranzler J., Martinez V., Rosenbloom A.L.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:scopusLessons from the genetics of Laron syndrome
ReviewAbstract: In the decade since the cloning and sequencing of the growth hormone receptor (GHR) and the recognitPalabras claves:Autores:Jaime Guevara-Aguirre, Rosenbloom A.L.Fuentes: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:scopusStature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives
ArticleAbstract: Heterozygosity for certain mutations of the GH receptor (GHR) gene has been proposed as the cause ofPalabras claves:Autores:Berg M.A., Francke U., Jaime Guevara-Aguirre, Rosenbloom A.L.Fuentes:scopus