Mostrando 10 resultados de: 17
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Journal of Clinical Endocrinology and Metabolism(4)
Acta Pædiatrica(2)
Acta Paediatrica Scandinavica, Supplement(1)
American Journal of Human Genetics(1)
American Journal of Medical Genetics, Part A(1)
Branding 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:scopusA 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: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: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 (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:scopus