Mostrando 7 resultados de: 7
Filtros aplicados
Publisher
BMC Medical Genomics(1)
BioMed Research International(1)
Frontiers in Endocrinology(1)
Genes(1)
Journal of Medical Case Reports(1)
Área temáticas
Enfermedades(6)
Farmacología y terapéutica(4)
Bioquímica(3)
Anatomía humana, citología, histología(2)
Fisiología humana(2)
Área de conocimiento
Genética(5)
Biología molecular(1)
Farmacología(1)
Laboratorio médico(1)
Pediatría(1)
A 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, 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 JIJÓN, Verónica YumicebaFuentes: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, 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 JIJÓN, 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, 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 JIJÓN, Verónica YumicebaFuentes:googlescopusPharmacogenomics, biomarker network, and allele frequencies in colorectal cancer
ReviewAbstract: Colorectal cancer is one of the leading causes of cancer death worldwide. Over the last decades, sevPalabras claves:Autores:Alexandra Patricia Guevara, Andrés López-Cortés, Ángela León-Cáceres, Cayún J.P., Cesar Paz-y-Miño, Dámaris P. Intriago-Baldeón, Gabriela Fernanda Jaramillo-Koupermann, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, Paola E. Leone, Quiñones L.A., SANTIAGO XAVIER GUERRERO JIJÓN, Soria N.W.Fuentes: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, 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 JIJÓN, Verónica Yumiceba, Yumiseba I.Fuentes: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, Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Paola E. Leone, SANTIAGO XAVIER GUERRERO JIJÓN, Verónica YumicebaFuentes:scopusMulti-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, 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 JIJÓN, Sinche M., Tambaco Jijón N., Verónica YumicebaFuentes:googlescopus