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Article(8)
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Annales de Genetique(2)
Investigación clínica(2)
Clinical Genetics(1)
Fertility and Sterility(1)
Journal of Pediatric Endocrinology and Metabolism(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: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: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: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