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High 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: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: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: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: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:googlescopusClonal chromosome abnormalities in malignant hematological diseases using fluorescence in situ hybridization
ArticleAbstract: Fluorescent in situ hybridization (FISH) is a rapid, sensitive and reliable method for the identificPalabras claves:Autores:Chirino H., Francisco Álvarez-Nava, González R., González-Ferrer S., Pineda-Del Villar L., Rojas-Atencio A.E., Soto-Quintana M., Urdaneta K.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: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:googlescopus