Buscar
Mostrando ítems 1-10 de 16
Alport autossômica: um estudo de duas famílias norte-rio-grandenses
(BrasilUFRNPROGRAMA DE PÓS-GRADUAÇÃO EM BIOINFORMÁTICA, 2019-12-19)
Alport syndrome (AS) is a genetically rare, heterogeneous and hereditary pathology
associated with germline mutations in collagen type IV genes (COL4A3, COL4A4 and
COL4A5). Characterized by progressive loss of renal ...
Identificación de interacciones proteicas de ADAMTS19 en un contexto ovárico
(Universidad del RosarioMaestría en Ciencias con Énfasis en Genética HumanaFacultad de medicina, 2017)
ADAMTS proteins (disintegrins and metalloproteinases with thrombospondin motifs) have been associated with various biological processes including follicular development and ovulation. Some members are considered orphan ...
Tamizaje neonatal para fibrosis quística en una muestra de la ciudad de Bogotá
(Universidad del RosarioMaestría en Ciencias con Énfasis en Genética HumanaFacultad de medicina, 2011)
Cystic Fibrosis is the most common autosomic recessive disease in caucasic population. The incidence in Colombia is still unknown, but previous studies at Universidad del Rosario have shown that it is relatively high . ...
Hallazgos secundarios en la secuenciación del exoma según las recomendaciones del Colegio Americano de Genética Médica y Genómica (ACMG) en una muestra de la población colombiana
(Universidad del RosarioMaestría en EpidemiologíaMaestría en Actividad Física y Salud, 2019)
Background: In the year 2017, The American College of Medical Genetics and Genomics (ACMG) published the second version of their secondary findings reporting recommendations, for cases in which a person receives a genetic ...
Relación entre polimorfismos de la metaloproteinasa y hernia discal lumbar en trabajadores. Revisión de alcance 2008 - 2018
Introduction: Lumbar disc herniation (LDH) and clinical syndrome secondary to radiculopathy are the majors causes of morbidity and costs in world public health, with an estimated incidence between 1% and 2% in the population ...
Ataxias heredodegenerativas
(Universidad del RosarioEspecialización en NeurologíaFacultad de Medicina, 2013)
NEURODEGENERATIVE DISEASES NAMED AS ATAXIA CONSTITUTES THE MOST COMMON PATHOLOGY INBETWEEN DEGENERATIVE DISEASES THAT AFFECT CEREBELLUM AND SPINE. THE PURPOSE OF THE SUBSEQUENT PAGES HAS TO BE WITH THE PATHOPHYSIOLOGY OF ...
Características clínicas, de diagnóstico y de tratamiento de la tuberculosis de rodilla en adultos. Revisión de alcance
Given the pathophysiology of the causative mycobacterium action, tuberculosis-TB is generally diagnosed late due to the slow progression of the infection and the delay in clinical manifestations, which is also very typical ...