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A schizophrenia gene locus on chromosome 17q21 in a new set of families of mexican and central american ancestry: evidence from the NIMH genetics of schizophrenia in latino populations study
(Am J Psychiatry 2009;166:442-449, 2009-02-02)
The present study investigated a new set of families of Latin American ancestry in order to detect the location of genes predisposing to schizophrenia and related psychotic disorders. Method: A genome-wide scan was performed ...
Characterization of Expression Quantitative Trait Loci in Pedigrees from Colombia and Costa Rica Ascertained for Bipolar Disorder
(2016-05-13)
The observation that variants regulating gene expression (expression quantitative trait loci, eQTL) are at a high frequency among SNPs associated with complex traits has made the genome-wide characterization of gene ...
Estudio intergeneracional de la mutación que causa la distrofia miotónica de tipo 1 en Costa Rica
(Revista de Neurología 2003; 36: 20-25, 2003-01-01)
Introduction. Myotonic dystrophy type 1 is a neuromuscular, degenerative and progressive disease, with an autosomal
dominant pattern of inheritance, variable eTressivity and incomplete penetrance. The genetic defect is ...
Global genetic diversity of Aedes aegypti
(2016-11)
Mosquitoes, especially Aedes aegypti, are becoming important models for studying invasion biology. We characterized genetic variation at 12 microsatellite loci in 79 populations of Ae. aegypti from 30 countries in six ...
Genetic Structure Analysis of Three Hispanic Populations from Costa Rica, Mexico, and the Southwestern United States Using Y-Chromosome STR Markers and mtDNA Sequences
(Human Biology, October 2006, v. 78, no. 5, pp. 551–563., 2006)
Two hundred seventeen male subjects from Costa Rica, Mexico,
and the Hispanic population of the southwestern United States were
studied. Twelve Y-chromosome STRs and the HVSI sequence of the mtDNA
were analyzed to ...
Phenylketonuria in Costa Rica: preliminary spectrum of PAH mutations and their associations with highly polymorphic haplotypes
(1996)
A preliminary evaluation of the molecular basis of phenylketonuria (PKU) in Costa Rica was made by performing mutational analyses in the six PKU families identified to date. These studies revealed the presence of the ...
Audiologic Features of Norrie Disease
(Ann Otol Rhinol Laryngol 114 (7) p. 533-538, 2005)
Objectives: Norrie disease is an X-linked recessive disorder in which patients are born blind and develop sensory hearing
loss in adolescence. The hearing loss associated with Norrie disease has been shown in a genetically ...
Análisis de varios marcadores genéticos clásicos en la población de Costa Rica
(2001)
A study of several loci blood groups (ABO, Diego, Duffy, Kell, Kidd, Lewis, Lutheran, MNSs, P,
Rhesus and Secretor), and Hp serum protein was carried out on a sample of 2 196 unrelated Costa Rican individuals
of both ...
Genetic structure of personality factors and bipolar disorder in families segregating bipolar disorder
(Journal of Affective Disorders xxx (2011) xxx–xxx, 2011)
Bipolar disorder (BPD) has been associated with variations in personality dimensions,
but the nature of this relationship has been unclear. Inthis study, theheritabilities of BPDandtheBig
Five personality factors and the ...
Disease-associated CAG·CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion
(Nucleic Acids Research 42(11) p. 7047–7056, 2014-05-01)
Genetically unstable expanded CAG·CTG trinucleotide repeats are causal in a number of human disorders, including Huntington disease and myotonic dystrophy type 1. It is still widely assumed that DNA polymerase slippage ...