Mostrando 10 resultados de: 24
Publisher
Forensic Science International: Genetics Supplement Series(6)
BioMed Research International(2)
Journal of Medical Case Reports(2)
Scientific Reports(2)
BMC Medical Genomics(1)
Characterization 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: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, P. Guevara-Ramírez, Paola E. Leone, Santiago Xavier Guerrero, 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: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, P. Guevara-Ramírez, Paola E. Leone, Pérez-M G., Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusAncestral analysis of a Native American Ecuadorian family with congenital insensitivity to pain with anhidrosis
ArticleAbstract: Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disPalabras claves:Congenital insensitivity to pain with anhidrosis, ecuadorian, FAAH, Native American, NTRK1Autores:Albuja Echeverría B., Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Eliana Cabascango, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, P. Guevara-Ramírez, Paola E. Leone, Pérez-M G., Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopus3D cytogenomics: Structural variation in the three-dimensional genome
Book PartAbstract: Balanced and unbalanced structural variants (SVs) contribute to the human genome diversity but havePalabras claves:3D genome organization, Chromosome conformation capture assays, Copy number variants (CNVs), Hi-C, Single-nucleotide variants (SNVs), Structural variations (SVs), Topologically associating domains (TADs), Whole-genome sequencing (WGS)Autores:Melo U.S., Spielmann M., Verónica YumicebaFuentes:scopusA 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:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Jorge P. Torres-Yaguana, P. Guevara-Ramírez, Paola E. Leone, Runruil G., Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusA quick guide for using microsoft onenote as an electronic laboratory notebook
ArticleAbstract: Scientific data recording and reporting systems are of a great interest for endorsing reproducibilitPalabras claves:Autores:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, INDACOCHEA A., Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Joel Paredes-Gualtor, Oswaldo Moscoso-Zea, P. Guevara-Ramírez, Pablo Saa, Paola E. Leone, Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusAllele frequency data for 15 autosomal strs and ancestral proportions using aims-indels in the shuar ethnic group from Ecuador
ArticleAbstract: The ethnic group Shuar is located in Ecuador. To identify their genetic composition, 46 ancestry-infPalabras claves:AIM-Indels, ECUADOR, shuar, STRsAutores:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, D. Maldonado-Oyervide, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, O. Astudillo-González, P. Guevara-Ramírez, Paola E. Leone, Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusGenes involved in damage response caused by UV radiation in Ecuadorian population of different altitude regions
ArticleAbstract: Ecuador has various regions at different altitudes. It is known that at high altitudes, organisms exPalabras claves:altitude, ECUADOR, UV radiation, XPC, XPD, XPGAutores:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, P. Guevara-Ramírez, Paola E. Leone, Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusGenetic variation of high-altitude Ecuadorian population using autosomal STR markers
ArticleAbstract: Fifteen autosomal STRs were analyze in order to elucidate the differences between low and high landPalabras claves:Genetic distances, Highland Ecuadorian populationAutores:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Anibal Gaviria, Cesar Paz-y-Miño, Cristina Rodríguez-Pólit, Fiallos G., Gruezo C., Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, Margarita Vela, P. Guevara-Ramírez, Paola E. Leone, Santiago Xavier Guerrero, Verónica YumicebaFuentes:googlescopusGenotoxic and Carcinogenic Potential of Compounds Associated with Electronic Cigarettes: A Systematic Review
ReviewAbstract: Background. Many studies, comparing the health associated risks of electronic cigarettes with convenPalabras claves:Autores:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Antonella Vera-Guapi, Cesar Paz-y-Miño, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, P. Guevara-Ramírez, Paola E. Leone, Santiago Xavier Guerrero, Tiffany Cevallos-Vilatuña, Verónica YumicebaFuentes:googlescopus