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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 ...
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 ...
Las malformaciones congénitas en Costa Rica. II (Estudio retrospectivo hospitalario de caso-control)
(1985)
Se realizó un estudio retrospectivo de caso-control de malformaciones congénitas en Costa Rica, utilizando expedientes clínicos de los Hospitales Nacional de Niños Carlos Sáenz Herrera y la Maternidad Carit, entre 1970 y ...
Dermatoglifos en dos poblaciones indígenas Guaymí de Costa Rica
(Revista de Biología Tropical 31(2) p.268-257, 1983-04-27)
Twenty-three palmar and digital dermatogliphic characters were examined in two Guaymi Amerindian
populations, Abrojo and Limoncito, in southeastern Costa Rica. Derrnatogliphs were analyzed in
relation to sex, bilaterality ...
La consanguinidad en las provincias centrales de Costa Rica
(1991)
Se efectuó un estudio de la consanguinidad en las cuatro provincias centrales de Costa Rica (Alajuela, Cartago, Heredia y San José), mediante el método genealógico, que incluyo 7822 matrimonios, en seis periodos establecidos ...
High mitochondrial mutation rates estimated from deep-rooting Costa Rican pedigrees
(American Journal of Physical Anthropology 2012 July ; 148(3): 327–333., 2012-07)
Estimates of mutation rates for the noncoding hypervariable Region I (HVR-I) of mitochondrial
DNA (mtDNA) vary widely, depending on whether they are inferred from phylogenies (assuming
that molecular evolution is clock-like) ...
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 ...
Ancestry Informative Markers Clarify the Regional Admixture Variation in the Costa Rican Population
(Human Biology Open Access Pre-Prints. Paper 34., 2013-10-09)
Study for the first time a random sample from all regions of the country with AIMS (Ancestry Informative Markers) to address the individual and regional admixture proportions. A sample of 160 male individuals was screened ...
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family
(Neurogenetics : 4 (4) p. 191-197, 2003-07-05)
Abstract. Charcot-Marie-Tooth disease type IB (CMT 1B) is caused by mutations in the gene
coding for peripheral myelin protein zero (MPZ, P0) that plays a fundamental role in adhesion
and compaction of peripheral myelin. ...
Genetic diversity and evolution of the human leptin locus tetranucleotide repeat
(Hum Genet 110; p. 412-417, 2002)
To better understand the evolutionary history
of the gene region containing the multifunctional adipose
tissue hormone leptin, we genotyped 1,957 individuals
from 12 world populations for a highly variable tetranucleo ...