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Clinical 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: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: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:googleFrequency of Y chromosomal material in Mexican patients with Ullrich‐Turner syndrome
OtherAbstract: Cytogenetic studies have shown that 40–60% of patients with Ullrich‐Turner syndrome (UTS) are 45,X,Palabras 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:googleNiemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population
OtherAbstract: Introduction and Objectives Niemann-Pick disease type A (NPD-A) and B (NPD-B) are lysosomal storagePalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:googlePP139—Association of ABCB1, ABCC2, CYP2C9 and CYP2C19 polymorphism with phenytoin plasma concentrations
OtherAbstract: Aim To evaluate the association of CYP2C9, CYP2C19, ABCB1, and ABCC2 polymorphism on PHT plasma levePalabras claves:Autores:MELANIE BRIGETTE ARROYO LOPEZFuentes:google