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Anthropometric variables as cardiovascular risk pbkp_redictors in a cohort of adult subjects with Turner syndrome
ArticleAbstract: Background and purpose: Excessive adiposity is associated with cardiometabolic complications in TurnPalabras claves:Anthropometric indexes, Body Composition, cardiometabolic risk, Metabolic syndrome, obesity, Overweight, Turner syndromeAutores:Francisco Álvarez-Nava, Jéssica Guarderas, Julia Witt, Lanes R., Marcia Racines, María EstévezFuentes:scopusGHR and VDR genes do not contribute to the growth hormone (GH) response in GH deficient and turner syndrome patients
ArticleAbstract: We have prospectively assessed the influence of GHR and VDR gene polymorphisms on the response to rhPalabras claves:GHR and VDR polymorphisms, Growth hormone deficiency, Growth hormone therapy, Turner syndromeAutores:Francisco Álvarez-Nava, Gunczler P., Lanes R., Marcano H., Paoli M., Pardo T., Soto-Quintana M., Villalobos J.Fuentes:googlescopusFISH and PCR analysis of the presence of Y-chromosome sequences in a patient with Xq-isochromosome and testicular tissue
ArticleAbstract: Mixed gonadal dysgenesis includes a heterogeneous group of different chromosomal, gonadal, and phenoPalabras claves:FISH, PCR, SRY, Testicular development, Xq-isochromosomeAutores:Borjas L., Francisco Álvarez-Nava, González S., Martínez M.C., Rojas A., Soto-Quintana M.Fuentes:googlescopusFemale pseudohermaphroditism with phallic urethra in the offspring of a mother with an adrenal tumor
ArticleAbstract: Background: Female pseudohermaphroditism is a disorder in which 46,XX females with ovaries do not dePalabras claves:Differential Diagnosis, Female pseudohermaphroditism, Maternal adrenal tumorAutores:Álvarez Z., Francisco Álvarez-Nava, Lanes R., Soto-Quintana M., Temponi A.Fuentes:googlescopusEpigenetics in Turner syndrome
ReviewAbstract: Background: Monosomy of the X chromosome is the most frequent genetic abnormality in human as it isPalabras claves:Aneuploidy, Chromatin, DNA methylation, Embryonic stem cells, Epigenetics, Gene Expression, Mouse models, Turner syndromeAutores:Francisco Álvarez-Nava, Lanes R.Fuentes:googlescopusDisminished zinc plasma concentrations and alterations in the number of lymphocyte subpopulations in Down's syndrome patients
ArticleAbstract: Alterations of plasma levels of zinc and in the immune system in Down's syndrome (DS) have been repoPalabras claves:Down syndrome, Lymphocyte subpopulations, ZincAutores:Fernández D., Francisco Álvarez-Nava, Fulcado W., Granadillo V., López E., Ocando A., Rojas-Atencio A.E., Soto-Quintana M.Fuentes:googlescopusHigh incidence of Y-chromosome microdeletions in gonadal tissues from patients with 45,X/46,XY gonadal dysgenesis
ArticleAbstract: A higher incidence of Y-chromosome microdeletions was found on gonadal DNA than on peripheral bloodPalabras claves:Autores:Francisco Álvarez-Nava, Pineda L., Puerta H., Soto-Quintana M., Temponi A.Fuentes:googlescopusPPARGC1A promoter DNA-methylation level and glucose metabolism in Ecuadorian women with Turner syndrome
ArticleAbstract: Reduced gene expression of PPARGC1A in subjects with insulin resistance (IR) has been reported. InsuPalabras claves:DNA methylation, Insulin Resistance, pancreatic β-cell function, PPARGC1A, Turner syndromeAutores:Daniela Bastidas, Francisco Álvarez-Nava, Marcia Racines-Orbe, Marco Salinas, Yosselin VicuñaFuentes:scopusInsulin Sensitivity and Pancreatic β-Cell Function in Ecuadorian Women With Turner Syndrome
ArticleAbstract: Objective: To assess insulin sensitivity and pancreatic β-cell function in an adult population of EcPalabras claves:glucose metabolism, Impaired glucose tolerance, insulin resistance indices, obesity, Overweight, pancreatic β-cell function, Turner syndromeAutores:Daniela Bastidas, Francisco Álvarez-Nava, Jéssica Guarderas, Marcia Racines-OrbeFuentes:scopusMetabolic syndrome as a risk factor for sensorineural hearing loss in adult patients with turner syndrome
ArticleAbstract: Background and purpose: Metabolic syndrome (MetS) is a disorder associated with an increased risk ofPalabras claves:hearing loss, Metabolic syndrome, RISK FACTORS, Turner syndromeAutores:Francisco Álvarez-Nava, Jéssica Guarderas, Julia Witt, Lanes R., Marcia Racines-Orbe, María Estévez, Yosselin VicuñaFuentes:scopus