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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:googlescopusDiagnosis 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:googlescopusGHR 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: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: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: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:googlescopusInsulin 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:scopusThe Hypothesis of the Prolonged Cell Cycle in Turner Syndrome
ReviewAbstract: Turner syndrome (TS) is a chromosomal disorder that is caused by a missing or structurally abnormalPalabras claves:cell proliferation, congenital heart disease, embryonic lethality, Folliculogenesis, neuropsychological profile, prolonged cell cycle, Short stature, Turner syndromeAutores:Francisco Álvarez-Nava, Soto-Quintana M.Fuentes:googlescopusY-chromosome microdeletions in 45,X/46,XY patients [6]
OtherAbstract:Palabras claves:Autores:Francisco Álvarez-Nava, Puerta H.Fuentes:scopus