Mostrando 10 resultados de: 14
Filtros aplicados
Publisher
Investigacion Clinica(3)
Investigación clínica(2)
Annales de Genetique(1)
Diabetes, Metabolic Syndrome and Obesity(1)
Fertility and Sterility(1)
Área temáticas
Enfermedades(11)
Fisiología humana(7)
Anatomía humana, citología, histología(1)
Farmacología y terapéutica(1)
Fisiología y materias afines(1)
Complete androgen insensitivity syndrome: Clinical and anatomopathological findings in 23 patients
ArticleAbstract: Complete Androgen Insensitivity Syndrome (CAIS) is a type of Male Pseudohermaphroditism due to a defPalabras claves:androgen receptor, Male pseudohermaphroditism, primary amenorrhea, Testicular feminization, Testicular tissueAutores:Francisco Álvarez-Nava, González S., Martinez C., Prieto-Carrasquero M., Soto-Quintana M.Fuentes:googlescopusAnthropometric 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:scopusDiagnosis and management of patients with sex differentiation disorders: experience at the Unit of Medical Genetics of the University of Zulia, Maracaibo, Venezuela
ArticleAbstract: Abnormalities of sexual differentiation (ASD) represent a group of entities, heterogeneous in theirPalabras claves:Autores:Francisco Álvarez-Nava, González-Ferrer S., Soto-Quintana M.Fuentes:googlescopusFISH and PCR analyses in three patients with 45,X/46,X,idic(Y) karyotype: Clinical and pathologic spectrum
ArticleAbstract: Objective. - To delineate the phenotypic spectrum (clinical and gonadal features) from patients withPalabras claves:45,X/46,X,idic(Y), Molecular analysis, SRY gene, Testicular developmentAutores:Álvarez Z., Francisco Álvarez-Nava, Martínez M.C., Prieto-Carrasquero M., Soto-Quintana M.Fuentes:googlescopusElevated second-trimester maternal serum β-human chorionic gonadotropin and amniotic fluid alpha-fetoprotein as indicators of adverse obstetric outcomes in fetal Turner syndrome
ArticleAbstract: Aim The objective of this study was to determine the ability of biochemical analytes to identify advPalabras claves:adverse pregnancy outcome, biochemical screening, Prenatal diagnosis, Turner syndromeAutores:Bracho A., Francisco Álvarez-Nava, Lanes R., Morales-Machin A., Pons H., Soto M.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:googlescopusHypoplasia of the tibia, polydactyly, and triphalangeal thumb: 1st family described in Venezuela
ArticleAbstract: Werner in 1915, described a patient is characterized by a tibial bilateral aplasia or hypoplasia, poPalabras claves:Autores:Boscán-Porras N., Casilla-Nava S., Delgado-Luengo J., Delgado-Luengo W., Francisco Álvarez-Nava, Gonzalez-Inciarte L., Gonzalez-Inciarte M.E., Martinez-Basalo C.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:scopusMaternal serum screening: Clinical importance of false-positive rate
ArticleAbstract: Maternal serum screening to identify fetal aneuploidies is now routinely offered during the second tPalabras claves:Alpha-fetoprotein, Fetal chromosomal abnormalities, Free beta human chorionic gonadotropin, Maternal serum screening, Prenatal diagnosis, Unconjugated estriolAutores:De Atenciol A., Francisco Álvarez-Nava, Martínez M.C., Morales A., Padrón T., Prieto-Carrasquero M., Soto-Quintana M., Villalobos D.Fuentes:googlescopus