Mostrando 6 resultados de: 6
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BMC Medical Genomics(1)
BioMed Research International(1)
Frontiers in Endocrinology(1)
Genes(1)
Journal of Medical Case Reports(1)
Multi-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms
ArticleAbstract: Background: Detection of chromosomal abnormalities is crucial in various medical areas; to diagnosePalabras claves:chromosome alterations, chromosome polymorphisms, Cytogenetics, Genetic testingAutores:Alexandra Patricia Guevara, Ana Karina Zambrano , Andrés López-Cortés, Andy Pérez-Villa, Arianne Llamos Paneque, Burgos R.I., Cesar Paz-y-Miño, Cruz F., Echeverría-Garcés G., Garzón-Castro M., Guapi N V.H., Isaac Armendáriz-Castillo, Jenny Álvarez Vidal, Jennyfer M. García-Cárdenas, Jiménez Torres I., Juan Carlos Ruiz-Cabezas, Lamar-Segura E., Licuy P., Martha Montalván, Meneses Álvarez S., Moreta G., Naranjo M.E., Ocampo L., Ochoa Pérez C., Paola E. Leone, Paredes R., Porras-Borja F., Ramón Miguel Vargas-Vera, Recalde-Báez M.A., Ruiz M., Santiago Xavier Guerrero, Sinche M., Tambaco Jijón N., Verónica YumicebaFuentes:googlescopusClinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: A case report
ArticleAbstract: Background: Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal rPalabras claves:CIPA, ecuadorian, Genomics analysis, Native American, NTRK1Autores:Alexandra Patricia Guevara, Ana Karina Zambrano , Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Echeverría B.A., Eliana Cabascango, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Paola E. Leone, Pérez-M G., Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusA deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: A case report
ArticleAbstract: Background: Anaplastic astrocytoma is a rare disorder in children from 10 to 14 years of age, with aPalabras claves:High-grade gliomas, Li-Fraumeni syndrome, Pediatric anaplastic astrocytoma, TP53Autores:Alexandra Patricia Guevara, Ana Karina Zambrano , Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Jorge P. Torres-Yaguana, Paola E. Leone, Runruil G., Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusOncology and Pharmacogenomics Insights in Polycystic Ovary Syndrome: An Integrative Analysis
ReviewAbstract: Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder characterized by hyperandrogePalabras claves:Bioinformatic, breast cancer (BC), endometrial cancer (EC), ovarian cancer (OC), Pharmacogenomics, Polycystic ovary syndrome (PCOS)Autores:Alexandra Patricia Guevara, Ana Karina Zambrano , Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, Paola E. Leone, Santiago Xavier Guerrero, Verónica Yumiceba, Yumiseba I.Fuentes:googlescopusCharacterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR
ArticleAbstract: The incidence of cystic fibrosis (CF) and the frequency of the variants reported for CFTR depend onPalabras claves:Autores:Alexandra Patricia Guevara, Ana Karina Zambrano , Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, Juan Carlos Ruiz-Cabezas, Paola E. Leone, Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusTcga pan-cancer genomic analysis of alternative lengthening of telomeres (Alt) related genes
ArticleAbstract: Telomere maintenance mechanisms (TMM) are used by cancer cells to avoid apoptosis, 85–90% reactivatePalabras claves:ALT, Cáncer, IN SILICO, TelomeresAutores:Alexandra Patricia Guevara, Ana Karina Zambrano , Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Paola E. Leone, Santiago Xavier Guerrero, Verónica YumicebaFuentes:scopus