Mostrando 4 resultados de: 4
Filtros aplicados
Publisher
Journal of Clinical Endocrinology and Metabolism(2)
American Journal of Medical Genetics, Part A(1)
European Journal of Endocrinology(1)
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: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:scopusIntrauterine and postnatal growth failure with normal GH/IGF1 axis and insulin-resistant diabetes in a consanguineous kinship
ArticleAbstract: Objective: To describe the clinical and biochemical features, and perform molecular analysis for canPalabras claves:Autores:Fang P., Hwa V., Jaime Guevara-Aguirre, Kerns S.L., Marco Guevara-Aguirre, Ostrer H., Procel P., Rosenbloom A.L., Rosenfeld R.G., Saavedra J.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