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Perspectiva y comprensión bioquímica del síndrome de Down
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 toExpand
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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
The human population is heterogeneous in genetic susceptibility, chromosomal instability and disease risk; all factors which depend on inherited genetic constitution and acquired nongeneticExpand
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Functional Neurogenomics: A New Approach to Study Cognitive Disability in Down Syndrome Brain
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 severalExpand
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Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation.
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 wereExpand
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Gene-Dosage Imbalance of Lymphocytes and Brain from Down Syndrome Patients
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 riskExpand
Genómica comparativa de los genes localizados en la región critica del cromosoma 21 asociada con el síndrome de Down
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 lasExpand
¿Manzanilla o té con azúcar? Nuevas pautas de ayuno preoperatorio en cistectomía
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, givingExpand
Hemimelia tibial izquierda con pie equino varo aducto bilateral y ausencia del tercer rayo de la mano izquierda. Reporte de Caso
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