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Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenital (Becker disease) carrying a new mutation in the CLCN1 gene
(Revista de Biología Tropical 56(1) p.1-11, 2006-08-18)
Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It
is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively.
Here we confirm ...
Individual Differences In The Forced Swimming Test And The Effect Of Environmental Enrichment: Searching For An Interaction
(Neuroscience 265(1):95-107, 2014-02-05)
Animals with low and high immobility in the forced
swimming test (FST) differ in a number of neurobehavioral
factors. A growing body of evidence suggests that the exposure
to enriched environments mediates a number ...
Individual differences in the forced swimming test and neurochemical kinetics in the rat brain
(Physiology & Behavior 126(1):60-69, 2014-02-08)
Individual differences in the forced swimming test (FST) could be associatedwith differential temporal dynamics
of gene expression and neurotransmitter activity. We tested juvenile male rats in the FST and classified ...
Daño del ADN en trabajadoras bananeras expuestas a plaguicidas en Limón, Costa Rica
(Revista de Biología Tropical 50 (2):507-518, 2002, 2002-06)
Pesticide use in Costa Rica is very high and all year round. A high percentage of what is sprayed
remains in the environment and in the living organisms around. This situation brings contamination and health
problems to ...
Diagnóstico molecular de la distrofia miotónica (DM) en Costa Rica
(Acta Medica Costarricense :43 (4) p. 159-167, 2001-10)
La Distrofia Miotónica es una enfermedad multisistémica de herencia autosómica dominante. El defecto molecular es una expansión del trinucleótido CTG presente en Ia región 3' no codificante (3' UTR) del gen DMPK, localizado ...
Aspectos genéticos y moleculares de la distrofia miotónica
Molecular and genetic aspects of myotonic dystrophy
(1999)
Mvotonic Dystrophy is a multisystemic illness which affects several tissues such as the muscle, the brain and some endocrine tissues. It presents a dominant of autosomic inheritance with incomplete penetrance and variable ...
Diagnóstico directo de la mutación que causa el síndrome del cromosoma X frágil. Experiencia en Costa Rica.
(Acta Medica Costarricense 44 (1):27-33, 2002)
Justificación y objetivo: el síndrome del cromosoma X frágil es la principal causa de retardo mental hereditario.
Afecta a 1:4 000 varones y a 1:6 000 mujeres. La mayoría de las personas afectadas aún no han sido ...
Aberraciones cromosómicas en trabajadoras expuestas a plaguicidas
Chromosomic aberrations in female workers exposed to pesticides
(Revista de Biología Tropical 52(3) p.623-628, 2004-12-15)
The purpose of this work was
to determine if the occupational exposure to those pesticides used at banana plantations’ packaging plants produces
genetic damage to somatic cells of female workers. Chromosomal aberrations ...
La biología molecular como herramienta para mejorar la calidad de vida. Experiencia con enfermedades hereditarias incapacitantes
(1999)
Entre las mutaciones a nivel molecular responsables de causar enfermedades genéticas en el ser humano, tradicionalmente se conocían: 1.- cambios de un nucleótido por otro. 2.- pérdida de uno o varios nucleótidos. 3.- ...
Aspectos genéticos y moleculares de las enfermedades miotónicas
Molecular and genetic aspects of the myotonic conditions
(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 ...