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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 ...
Molecular characterization of a region of DNA associated with mutations at the agouti locus in the mouse
(1991-09-15)
Molecular characterization of a radiationinduced
agouti (a)-locus mutation has resulted in the isolation
of a segment of DNA that maps at or near the a locus on
chromosome 2 in the mouse. This region of DNA is deleted ...
Diagnóstico molecular de cromosomopatías fetales en Costa Rica
(Acta méd. costarric. Vol 51 (5), octubre-diciembre 2009 p.240-244, 2009-10)
Justificación y objetivos: En Costa Rica, el diagnóstico de anomalías cromosómicas fetales se
realiza solo mediante el análisis citogenético convencional de cromosomas obtenidos de cultivos
celulares. Además de que la ...
Cordocentesis para diagnóstico fetal citogenético en Costa Rica
(Progresos en Diagnóstico y tratamiento prenatal ;15 (3): 116-119, 2003)
The objective of this study was to identify fetal abnormal chromosomes in high risk pregnancies and to allow proper pediatric and obstetric management of the cases as well as genetic counseling. The results of 103 genetic ...
Polimorfismo cromosómico intraespecífico en la serpiente de coral Micrurus nigrocinctus (Ophidia: Elapidae)
(1981)
En un estudio cito genético de 59 ejemplares de la serpiente de coral Micrurus nigrocinctus procedentes de todas las áreas de distribución de Costa Rica, se observó dos patrones cariológicos principales: I o "nigrocinctus" ...
Aberraciones cromosómicas en trabajadoras expuestas a plaguicidas
(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 ...
Diagnóstico prenatal de aberraciones cromosómicas en Costa Rica
(1985)
Prenatal diagnosis of chromosomal abnormalities stands upon kariotype analysis of amniotic fluid cells grown in vitro, usually prior to the 20th week of gestation. Laboratory activities began during the year of 1984 aiming ...
Cariotipos conyugales en infertilidad y pérdidas gestacionales en Costa Rica
(Tokoginecol Pract 61 (6): 332-336, 2002)
Less than 10% of couples with three or more consecutive
pregnancy losses show chromosomal defects
on routine cytogenetic testing. The objective of this
work was to study the role of these defects on infertility
and ...
Genome wide association mapping for the tolerance to the polyamine oxidase inhibitor guazatine in arabidopsis thaliana
(2016)
Guazatine is a potent inhibitor of polyamine oxidase (PAO) activity. In agriculture, guazatine is used as non-systemic contact fungicide efficient in the protection of cereals and citrus fruits against disease. The composition ...
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 ...