Mostrando 10 resultados de: 36
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A mutation in the 5′ non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism
OtherAbstract: In Ullrich-Turner syndrome (UTS) patients, the presence of a Y-chromosome or Y-derived material hasPalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:googleClinical and genetic characteristics of Mexican Huntington's disease patients
OtherAbstract: We report the characteristics of 691 Mexican patients with Huntington's disease (HD). These patientsPalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:googleClinical and molecular aspects of Friedreich ataxia and other recessive and sporadic ataxias
OtherAbstract: In this review, we propose a diagnostic algorithm for patients with non dominant ataxia. Clinical anPalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:googleClinical traits and molecular findings in 46, XX males
OtherAbstract: 46,XX maleness is characterized by the presence of testicular development in subjects who lack a Y cPalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:googleBases moleculares de los principales polimorfismos del gen CYP2D6, diferencias étnicas y consecuencias farmacológicas
OtherAbstract: El gen CYP2D6 metaboliza aproximadamente el 25% de fármacos de uso clínico y exhibe una marcada variPalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:googleAn improved, non-isotopic method of screening cells from patients with abnormalities of sexual differentiation for Y chromosomal DNA content.
OtherAbstract: The detection of 45,X/46,XY mosaicism in patients with abnormalities of sexual differentiation is ofPalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:googleCFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening
OtherAbstract: Introduction. Cystic fibrosis, the most common autosomal recessive disorder, is caused by defects inPalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:googleCYP2D6 genotype and phenotype determination in a Mexican Mestizo population
OtherAbstract: Objective Although CYP2D6 genetic polymorphism plays an important role in interindividual and interePalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:googleAdam de Beaumais, Tiphaine Alves, Gilberto
OtherAbstract: The editors and the publisher would like to thank the members of the Editorial Board and the followiPalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:googleApolipoprotein E ε4 allele is associated with Parkinson disease risk in a Mexican Mestizo population
OtherAbstract: We investigated the association between apolipoprotein E (APOE) alleles and genotypes and ParkinsonPalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:google