Mostrando 6 resultados de: 6
Filtros aplicados
Publisher
Journal of Clinical Endocrinology and Metabolism(2)
Acta Paediatrica Scandinavica, Supplement(1)
Acta Pædiatrica(1)
American Journal of Medical Genetics, Part A(1)
Human Mutation(1)
Área temáticas
Enfermedades(5)
Fisiología humana(4)
Biblia(1)
Biografía, genealogía, insignias(1)
Bioquímica(1)
Área de conocimiento
Medicamento(1)
Origen
scopus(6)
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: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: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: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:scopusThe E180splice mutation in the GHR gene causing laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?
ArticleAbstract: Laron syndrome (LS) is a genetic disorder caused by mutations in the growth hormone receptor (GHR) gPalabras claves:Growth hormone insensitivity, Growth hormone receptor, Growth hormone receptor deficiency, Laron syndrome, Lineage markers, Mitochondrial haplogroups, Y-chromosome haplogroupsAutores:Arnhold I.J.P., Cassorla F., Damiani D., Fridman C., Gonçalves F.T., Hwa V., Jaime Guevara-Aguirre, Jorge A.A.L., Laron Z., Lins T.S.S., Pinto E.M., Rosembloom A.L., Rosenfeld R.G., Shevah O.Fuentes:scopus