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- Publications
- Influence
Perspectiva y comprensión bioquímica del síndrome de Down
- J. Villegas, J. M. Soto, F. Vallejo, A. Gómez
- Biology
- 2008
Down Syndrome (DS) is a chromosomal aberration where 21 chromosome is total or partial duplicate. DS is a common cause for mental retardation and its prevalence in general population is 1/600 to… Expand
- 7
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The Effect of Genetic Admixture in an Association Study: Genetic Polymorphisms and Chromosome Aberrations in a Colombian Population Exposed to Organic Solvents
- L. S. Hoyos-Giraldo, L. Escobar-Hoyos, +7 authors G. Bedoya
- Biology, Medicine
- Annals of human genetics
- 1 July 2013
The human population is heterogeneous in genetic susceptibility, chromosomal instability and disease risk; all factors which depend on inherited genetic constitution and acquired nongenetic… Expand
Functional Neurogenomics: A New Approach to Study Cognitive Disability in Down Syndrome Brain
- F. García-Vallejo, Alejandra Rocio Rodríguez Ortiz, +4 authors J. M. Soto
- Medicine
- 31 January 2018
Functional neurogenomics is the interface between neurosciences knowledge and Omics sciences data. It characterizes, identifies, and analyzes expression of genes involved in the function of several… Expand
Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation.
- Lina Johanna Moreno Giraldo, Ángela María Escudero Rodríguez, A. Gómez, J. M. Soto
- Medicine
- 20 July 2018
Abstract A study published in 2012 estimated incidence of MPS IVA, in 0.68 cases per 100, 000 live births in Colombia, and according to the Colombian Fund for High-Cost Diseases, in 2014 there were… Expand
INCREMENTO EN MUTACIONES DE TIPO TRANSICIONAL PARA ATENUAR EL EFECTO DE SESGO EN LA INACTIVACIÓN DEL CROMOSOMA X CONDUCEN A LA APARICIÓN DE MUTACIONES CON EFECTO PATOLÓGICO EN EL GEN DE LA IDURONATO2…
- A. Gómez
- 31 December 2017
Construcción de un modelo de interacción genético-metabólico basado en análisis bioinformático y correlaciones clínico-moleculares para la preeclampsia [recurso electrónico]
- J. M. Soto, F. Vallejo, A. Gómez
- 22 October 2019
Gene-Dosage Imbalance of Lymphocytes and Brain from Down Syndrome Patients
- Mailyn Alejandra Bedoya Saldarriaga, Alejandra Rocio Rodríguez Ortiz, Julio César Montoya Villegas, A. Gómez, J. M. Soto, Felipe Vallejo
- Medicine
- 5 September 2018
Introduction: Performing brain prenatal diagnostic from cerebral biopsies is invasive and risky to health of patient. In this sense the peripheral blood mononuclear cell (PBMC) is easy and low risk… Expand
Genómica comparativa de los genes localizados en la región critica del cromosoma 21 asociada con el síndrome de Down
- J. Villegas, Juliana Soto Girón, J. M. Soto, A. Gómez, F. Vallejo
- Biology
- 5 December 2010
Analisis previos en Sindrome de Down (SD) han identificado una region del cromosoma 21 conocida como Region Critica del SD (DSCR) en donde se localizan algunos genes cuya expresion modularia las… Expand
¿Manzanilla o té con azúcar? Nuevas pautas de ayuno preoperatorio en cistectomía
- M. M. R. Hierro, S. Atienza, A. Escandell, E. Díez, M. Andújar, A. Gómez
- Medicine
- 2012
Faced with invasive bladder cancer, with curative intent, radical cystectomy is performed and practiced urinary diversion. Since May 2012, we apply the new guidelines preoperative fasting, giving… Expand
Hemimelia tibial izquierda con pie equino varo aducto bilateral y ausencia del tercer rayo de la mano izquierda. Reporte de Caso
- A. Ojeda, J. Jímenez, A. Gómez, Wilmer Aponte
- Medicine
- 1 April 2020
Resumen La hemimelia tibial se puede presentar en una gran variedad de espectros, desde la hipoplasia tibial hasta la ausencia completa de la tibia con o sin compromiso adjunto cuadricipital,… Expand
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