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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 ...
Suggestive evidence for association between L-type voltage-gated calcium channel (CACNA1C) gene haplotypes and bipolar disorder in latinos: a family-based association study
(Bipolar Disorders 2013: 15: 206–214, 2013-02-25)
Objectives: Through recent genome-wide association studies (GWASs),
several groups have reported significant association between variants in
the calcium channel, voltage-dependent, L-type, alpha 1C subunit
(CACNA1C) and ...
The dystrophinopathies in Costa Rica
(Rev Biol Trop 52(3), 2004, 2004)
A five-years long study aiming to describe the basic genetic epidemiology of the dystrophinopathies in Costa Rica recruited 31 patients with clinical symptoms of DMD/BMD at the National Children’s Hospital (HNN). This ...
Genetic variation of the Y chromosome in Chibcha-Speaking amerindians of Costa Rica and Panama
(Human Biology 77(1): 71-91, 2005)
Genetic variation of the Y chromosome in five Chibchan tribes (Bribri, Cabecar, Guaymi, Huetar, and Teribe) of Costa Rica and Panama was analyzed using six microsatellite loci (DYS 19, DYS389A, DYS389B, DYS390, DYS391, and ...
mtDNA variation in the chibcha ameridian huetar from Costa Rica
(1994)
The genetic variation in a Chibcha-speaking Amerindian tribe from lower Central America, the Huetar, was analyzed using nucleotide sequences of the hypervariable segments of the mitochondria! DNA (mtDNA) control region, ...
Identification of circadian gene variants in bipolar disorder in Latino populations
(2015)
Background:
Variations in circadian genes can impact biological rhythms. Given the rhythm disturbances that characterize bipolar disorder (BD), genes encoding components of molecular clocks are good candidate genes for ...
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 ...
Distribution and Evolution of CTG Repeats at the Myotonin Protein Kinase Gene in Human Populations
(1996)
We have analyzed the CTG repeat length and the neighboring Alu insertion/deletion (+/-) polymorphism in DNA samples from 16 ethnically and geographically diverse human populations to understand the evolutionary dynamics ...
Unveiling the Hidden Bat Diversity of a Neotropical Montane Forest
(2016-10)
Mountain environments, characterized by high levels of endemism, are at risk of experiencing significant biodiversity loss due to current trends in global warming. While many acknowledge their importance and vulnerability, ...
A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3
(American Journal Human Genetic ; 68 (1 p. 269-274, 2001)
Autosomal recessive Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of disorders affecting the peripheral nervous system. The axonal form of the disease is designated as "CMT type 2" (CMT2), and one locus ...