publicaciones seleccionadas artículo académico Genetic and molecular aspects of drug-induced QT interval prolongation 2021-7-28 Genetic profile of the dystrophin gene reveals new mutations in colombian patients affected with muscular dystrophinopathy 2021-10-1 Noonan Syndrome with Multiple Lentigines and PTPN11 Mutation: A Case with Intracerebral Hemorrhage 2021-1-27 Possible Genetic Determinants of Response to Phenytoin in a Group of Colombian Patients With Epilepsy 2020-5-7 Síndrome Nefrótico: “De la teoría al manejo” 2020-2-27 A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies 2020-12-17 Uveitis and multiple sclerosis: potential common causal mutations 2019-6-3 Congenital leptin deficiency and leptin gene missense mutation found in two colombian sisters with severe obesity 2019-5-1 Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2 2018-5-1 A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy 2018-3-5 Identification of clinically relevant phenotypes in patients with Ebstein anomaly 2018-3-1 Creating and validating a warfarin pharmacogenetic dosing algorithm for colombian patients 2018-1-1 Meningioma rabdoide Grado III, en paciente pediátrico: Reporte de caso 2017-5-28 Improving the evaluation of milestones for students completing a clinical genetics elective 2017-12-1 A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis 2015-10-1 Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability 2015-10-1 Frecuencia de mutación y de variantes de secuencia para los genes BRCA1 y BRCA2 en una muestra de mujeres colombianas con sospecha de síndrome de cáncer de mama hereditario: serie de casos 2015-1-1 Transcriptional regulator PRDM12 is essential for human pain perception 2015-1-1 BMP15 c.-9Candgt;G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure 2014-1-1 Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology 2013-6-3 Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorder 2013-12-1 A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations 2013-11-1 Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis 2012-8-1 A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin 2012-3-1 Screening for mutations of the FOXO4 gene in premature ovarian failure patients 2012-3-1 CITED2 mutations potentially cause idiopathic premature ovarian failure 2012-11-1 Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype 2011-6-30 Analisis de marcadores STR sobre el cromosoma X en una poblacion de Bogota 2010-1-1 Population data on 15 autosomal STRs in a sample from Colombia 2009-6-1 Identificación de deleciones en portadoras de distrofia muscular de Duchenne 2008-1-1 Hemofilia: diagnostico molecular y alternativas de tratamiento 2007-9-1 Mutation study of spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of endoglin and ALK1 2006-3-1 PCR-heterodúplex por agrupamiento: Implementación de un método de identificación de portadores de la mutación más común causal de fibrosis quística en Colombia 2006-1-1 Distrofia Muscular de Duchenne y Becker: Una visión molecular 2005-9-5 ADN fetal en sangre materna: Implicaciones para el diagnóstico prenatal 2005-1-1 Falla Ovarica Prematura y Síndrome X Fragil 2005-1-1 Aspectos clínico moleculares de la hiperplasia suprarrenal congénita 2004-1-1 Deleciones en el gen de la Distrofina en 62 familias colombianas correlación genotipo-fenotipo para la Distrofia Muscular de Duchenne y Becker. 2004-1-1 Bases Genéticas de la Preclampsia 2003-1-1 Estudio Citogenético en líquido Amniótico para la detección de Anomalías Cromosómicas del Feto 2003-1-1 Identificación de portadoras de hemofilia A para asesoramiento genético mediante análisis en el ADN de polimorfismos intragénicos del gen del factor VIII de la coagulación 2003-1-1 CFTR mutations in three Latin American countries 2000-4-24 capítulo Genética del retraso mental 2017-5-31 carta A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in the KRT1 gene 2013-2-1 comentario Genetics and genomic medicine in colombia 2015-1-1 revisión Hemophilia: Molecular diagnosis and alternatives of treatment 2007-7-1
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