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Investigacion Clinica(2)
Annales de Genetique(1)
Fertility and Sterility(1)
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International Journal of Gynecology and Obstetrics(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: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: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: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:googlescopusMaternal 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:googlescopusProspective prenatal serum screening for Down syndrome in Venezuela
ArticleAbstract: Objective: To assess the usefulness of triple-marker screening for Down syndrome in Venezuela. MethoPalabras claves:Fetal Down syndrome, Prenatal diagnosis, Prospective study, Risk estimate, Second-trimester maternal serum screeningAutores:Cañizález J., Francisco Álvarez-Nava, Morales-Machin A., Rojas A., Soto-Quintana M., Urdaneta K.Fuentes:googlescopus