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Aspectos genéticos y moleculares de las enfermedades miotónicas
(Revista de Neurología 38 (7) p 668-674, 2004)
Aim. The aim is to review the molecular and genetic aspects of the dystrophic and no-dystrophic myotonias. Background.
Myotonic diseases are hereditary conditions of the skeletal muscle, classified in two groups depending ...
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 ...
La genética humana en Costa Rica situación actual y sus perspectivas
(1985)
Se analiza la situación de la genética humana en Costa Rica mediante un estudio de la literatura científica publicada entre 1964 y 1984. Se muestra que a partir de 1976 se ha incrementado el número de publicaciones en este ...
Derechos humanos, emociones y neuroética
(2015)
El análisis de las emociones y su relación con los derechos
humanos, se sustenta de datos y argumentos científicos, en
especial de la Biología, la genética y la neurociencia; de igual
forma, echa mano de algunas nociones ...
Micronuclei frequency in lymphocytes of individuals occupationally exposed to pesticides
(Revista de Biología Tropical 49 (1):001-008, 2001, 2001)
Pesticides have been widely used in developing countries over the years. A large amount of these
remains in the environment and organisms. Pesticide pollution is detrimental to human health. The effects can
be seen on a ...
Norrie Disease Gene Mutation in a Large Costa Rican Kindred With a Novel Phenotype Including Venous Insufficiency
(1997)
A large Costa Rican kindred has been identified with 15 males affected with congenital blindness, progressive hearing loss, and venous insufficiency. Due to ophthalmological and audio-otological findings, including bilateral ...
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 ...
A Clostridium difficile Lineage Endemic to Costa Rican Hospitals Is Multidrug Resistant by Acquisition of Chromosomal Mutations and Novel Mobile Genetic Elements
(2017-01)
The antimicrobial resistance (AMR) rates and levels recorded for Clostridium difficile are on the rise. This study reports the nature, levels, diversity, and genomic context of the antimicrobial resistance of human C. ...
Deletion of amelotin exons 3–6 is associated with amelogenesis imperfecta
(2016-07-12)
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic conditions that result in defective dental enamel formation. Amelotin (AMTN) is a secreted protein thought to act as a promoter of matrix mineralization in ...
Diagnóstico prenatal citogenético mediante amniocentesis durante los trimestres II y III de gestación en Costa Rica
(Revista de Biología Tropical 49 (3-4): 1227-1236, 2001, 2001-12)
El objetivo de este estudio fue identificar cromosomopatía fetal en voluntarias con embarazos de alto riesgo genético, brindar adecuada atención obstétrica y pediátrica y asesoramiento genético. En 842 embarazadas se obtuvo ...