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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 ...
Polimorfismos en los genes de desintoxicacion CYP1A1, CYP2E1, GSTT1 y GSTM1 en la susceptibilidad al cáncer gástrico
Polymorphisms in detoxification genes CYP1A1, CYP2E1, GSTT1 and GSTM1 in gastric cancer susceptibility
(Revista de Biología Tropical 52(3) p.591-600, 2004-12-15)
Las enzimas de las familias P450 y Glutation Stransferasa están relacionadas en la activación y desintoxicación de sustancias que podrían actuar como cancerígenas. Polimorfismos genéticos en estas enzimas han sido asociados ...
Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1
(European Journal of Human Genetics p.1-8, 2014-07-23)
Myotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat (g.17294_17296(45_1000)) with more repeats associated with increased disease severity and reduced age at onset. Expanded disease-associated ...
Individual differences in the immobility behavior in juvenile and adult rats are associated with monoaminergic neurotransmission and with the expression of corticotropin-releasing factor receptor 1 in the nucleus accumbens
(Behavioural Brain Research, Vol. 252. pp. 77-87, 2013)
The study of individual differences provides an important methodological approach to analyze the
neurobehavioral spectrum of a given cohort in order to understand brain function and disease. Based
on immobility time in ...
Genotoxicidad de tres plaguicidas utilizados en la actividad bananera de Costa Rica
Genotoxicity of three pesticides used in Costa Rican banana plantations
(Revista de Biología Tropical 52(3) p.601-609, 2004-12-15)
Se evaluó la genotoxicidad in vitro de los fungicidas imazalil y tiabendazol y del insecticida clorpirifos, formulaciones empleadas en las bananeras costarricenses, utilizando la técnica de electroforesis de células únicas ...
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 ...
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 ...
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 ...
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.- ...