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Other(26)
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Clinical 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:googleBiología celular-molecular del cáncer
OtherAbstract: El propósito de la obra es facilitar a los lectores el acercamiento a los recientes y apasionantes cPalabras 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:googleA 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: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: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:googleAspectos clínicos y moleculares de la ataxia de Friedreich y otras ataxias recesivas y esporádicas
OtherAbstract: La presente revisión propone un algoritmo diagnóstico para las ataxias autosómicas recesivas y las lPalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:googleFounder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer’s disease in Mexican families
OtherAbstract: The etiology of Alzheimer’s disease (AD) is complex. To date, molecular genetic studies in several fPalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:googleGenetic factors involved in susceptibility for developing Parkinson's disease
OtherAbstract: Parkinson's disease (PD) is the main cause of parkinsonism (rigidity, resting tremor, bradykinesia aPalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:google