Browsing by Author "Restrepo, Carlos M."
Now showing items 1-20 of 37
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004 - A Novel Familial Case of Diffuse Leukodystrophy Related to NDUFV1 Compound Heterozygous Mutations
Introduction: Mitochondrial leukodystrophy due to complex I deficiency is an entity with high genetic heterogeneity, the mutations of the gene NDUFV1 being one of the causes of this disease. It is an autosomal recessive ...
Documento de conferencia. 2013
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A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy
Background: Electrocardiographic measures of left ventricular hypertrophy (LVH) are used as predictors of cardiovascular risk. We combined linkage and association analyses to discover novel rare genetic variants involved ...
Artículo. 2018
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A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations
NDUFV1 mutations have been related to encephalopathic phenotypes due to mitochondrial energy metabolism disturbances. In this study, we report two siblings affected by a diffuse leukodystrophy, who carry the NDUFV1 c.1156C>T ... Artículo. 2013
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A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis
Summary Autosomal recessive congenital ichthyosis (ARCI) is a group of rare, clinically heterogeneous skin disorders that affect cornification. ARCI includes lamellar ichthyosis, congenital ichthyosiform erythroderma and ... Artículo. 2015
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Analisis de marcadores STR sobre el cromosoma X en una poblacion de Bogota
El análisis de marcadores del cromosoma X ha sido ampliamente usado en el área de lagenética clínica, particularmente, para el análisis molecular de enfermedades ligadas al X.Recientemente, se han reconocido muchas ... Artículo. 2010
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Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability
We report two Colombian siblings affected by overgrowth, intellectual disability and facial dysmorphism. Exome (via NGS) and Sanger sequencing revealed that biallelic sequence variants in a novel gene (HERC1) might be ... Artículo. 2015
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BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure
BMP15 has drawn particular attention in the pathophysiology of reproduction, as its mutations in mammalian species have been related to different reproductive phenotypes. In humans, BMP15 coding regions have been sequenced ... Artículo. 2014
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CFTR mutations in three Latin American countries
We analyzed 192 cystic fibrosis (CF) alleles in three Latin American countries: Mexico, Colombia, and Venezuela. Mutation screening was performed by polymerase chain reaction (PCR) and a reverse dot blot detection kit that ... Artículo. 2000
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CITED2 mutations potentially cause idiopathic premature ovarian failure
Anomalies in gonadal development in a mouse knockout model of Cited2 have been recently described. In Cited2 -/- female gonads, an ectopic cell migration was observed and the female program of sex determination was transiently ... Artículo. 2012
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Congenital leptin deficiency and leptin gene missense mutation found in two colombian sisters with severe obesity
Background: Congenital leptin deficiency is a recessive genetic disorder associated with severe early-onset obesity. It is caused by mutations in the leptin (LEP) gene, which encodes the protein product leptin. These ... Artículo. 2019
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Creating and validating a warfarin pharmacogenetic dosing algorithm for colombian patients
Purpose: Warfarin is an oral anticoagulant associated with adverse reaction to drugs due to wide inter-and intra-individual dosage variability. Warfarin dosage has been related to non-genetic and genetic factors. CYP2C9 ... Artículo. 2018
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Deficiencia de glucosa 6-fosfato deshidrogenasa: Aspectos generales de la eritroenzimopatía más frecuente en el mundo
La deficiencia de la enzima glucosa 6-fosfato deshidrogenasa (G6PD) es la eritroenzimopatía congénita más frecuente en el mundo y se caracteriza por ictericia neonatal (esta enfermedad es asintomática hasta que el portador ... Artículo. 2005
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Deleciones en el gen de la Distrofina en 62 familias colombianas correlación genotipo-fenotipo para la Distrofia Muscular de Duchenne y Becker.
La correlación genotipo-fenotipo se estableció mediante el análisis dedeleciones del gen de la distrofina en pacientes con distrofia muscular de Duchenne yBecker (DMD/DMB).Objetivos: Establecer la correlación entre el ... Artículo. 2004
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Distrofia muscular de Duchenne y Becker: Una visión molecular
La distrofia muscular de Duchenne y Becker es la miopatía más común en ni ños y es causada por la ausencia de la proteína distrofina. Los afectados presentan signos de la enfermedad a edades tempranas de la vida, pierden ... Artículo. 2005
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¿Es el asesoramiento genético una práctica que estimula la eugenesia?
Este documento contiene en texto completo el articulo ¿Es el asesoramiento genético una práctica que estimula la eugenesia? publicado en Revista Ciencias de la Salud; Vol. 16, Núm. 1 (2018,0); 7-9;Revista Ciencias de la ... Artículo. 2018
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Genetics and genomic medicine in colombia
Colombia is a country located in the northwest corner ofSouth America (Fig. 1). Initially founded in 1717 as theViceroyalty of New Grenada, it underwent many transitionsin its government and territory after winning its ... Artículo. 2015
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Hemofilia: diagnostico molecular y alternativas de tratamiento
La hemofilia es una enfermedad recesiva ligada al cromosoma X que generalmente padecen los hombres. El diagnóstico genético preimplantación (DGP), el diagnóstico prenatal y el diagnóstico molecular de las mutaciones que ... Artículo. 2007
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Hemophilia: Molecular diagnosis and alternatives of treatment
The haemophilia is a recessive disease tied to the X chromosome that generally men suffer. The genetic preimplantation diagnosis (GPD), the prenatal diagnosis and the molecular diagnosis of the mutations that cause ... Artículo. 2007
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Identificación de deleciones en portadoras de distrofia muscular de Duchenne
Objetivos: identificación de mujeres portadoras en familias con afectados por distrofia muscular de Duchenne y Becker (DMD/DMB) mediante construcción de haplotipos y determinación de perdida de heterocigocidad. Introducción: ... Artículo. 2008
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Identification of a new candidate locus for ebstein anomaly in 1p36.2
Ebstein anomaly (EA) is a rare congenital heart defect (CHD) with a poorly characterized genetic etiology. However, some EA patients carry deletions in 1p36, all of which have been reported to carry distal deletions and ... Artículo. 2018
