Mostrando 10 resultados de: 14
Filtros aplicados
Publisher
Investigación clínica(3)
Annales de Genetique(2)
American Journal of Medical Genetics(1)
Clinical Epigenetics(1)
Clinical Genetics(1)
Área temáticas
Enfermedades(13)
Fisiología humana(10)
Ginecología, obstetricia, pediatría, geriatría(7)
Anatomía humana, citología, histología(2)
Bioquímica(1)
Clonal 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: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: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: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: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:googlescopusMolecular analysis in Turner syndrome
ArticleAbstract: Objective: The frequency of Y-chromosome material is high in Turner syndrome (TS), but the ocurrencePalabras claves:Autores:Fernández E., Francisco Álvarez-Nava, Lanes R., Sánchez M.A., Soto-Quintana M.Fuentes:googlescopusMolecular analysis of SRY gene in patients with mixed gonadal dysgenesis
ArticleAbstract: Mixed gonadal dysgenesis (MGD) includes a group of heterogeneous conditions consisting of a dysgenetPalabras claves:Direct sequencing, Mixed gonadal dysgenesis, PCR, Sex development, SRY gene, SSCPAutores:Álvarez Z., Barrera H., Borjas L., Francisco Álvarez-Nava, Martínez S., Ortiz R., Revol A., Rojas-Martinez A., Soto-Quintana M.Fuentes:googlescopus