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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, 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 JIJÓN, Verónica YumicebaFuentes:googleorcidscopusA 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:Alexandra Patricia Guevara, Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, INDACOCHEA A., Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, Joel Paredes-Gualtor, Oswaldo Moscoso-Zea, Pablo Saa, Paola E. Leone, SANTIAGO XAVIER GUERRERO JIJÓN, Verónica YumicebaFuentes:googleorcidscopusThe three-hybrid genetic composition of an Ecuadorian population using AIMs-InDels compared with autosomes, mitochondrial DNA and Y chromosome data
ArticleAbstract: The history of Ecuador was marked by the arrival of Europeans with Africans, resulting in the mixturPalabras claves:Autores:Alexandra Patricia Guevara, Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Anibal Gaviria, Cesar Paz-y-Miño, Cobos-Navarrete S., Cristina Rodríguez-Pólit, Fiallos G., Gruezo C., Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, Margarita Vela, Paola E. Leone, SANTIAGO XAVIER GUERRERO JIJÓN, Verónica YumicebaFuentes:googleorcidscopusMetabolic pathways of Alternative Lengthening of Telomeres in pan-carcinoma
ArticleAbstract: Alternative Lengthening of Telomeres (ALT) is a telomerase-independent mechanism deployed by severalPalabras claves:Autores:Andrés López-Cortés, Anilú Saucedo-Sariñana, Herrera-Yela A., Hidalgo-Fernández K., Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Jonathan Cruz-Varela, Juan Moromenacho, Lizbeth Peña-Zúñiga, María Esperanza Cerdán, Pamela Espinosa, Ronie Martínez, SANTIAGO XAVIER GUERRERO JIJÓNFuentes:googleorcidscopusTcga 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, Cancer, IN SILICO, TelomeresAutores: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 JIJÓN, Verónica YumicebaFuentes:googleorcidscopusGenetic basis and spatial distribution of glucose-6-phosphate dehydrogenase deficiency in ecuadorian ethnic groups: a malaria perspective
ArticleAbstract: Background: Glucose-6-phosphate dehydrogenase deficiency (G6PDd) is an X-linked disorder affecting oPalabras claves:Afro-Ecuadorians, ECUADOR, G6PD deficiency, Glucose-6-phosphate dehydrogenase, Malaria clusters, pharmacogenetics, single nucleotide variantsAutores:Alejandro Cabrera-Andrade, Ana Karina Zambrano, Andrés López-Cortés, Atarihuana S., Germán Burgos, Jennifer Gallardo-Cóndor, Karina Beatríz Jimenes-Vargas, Marco Coral-Almeida, Rodrigo Flores-EspinozaFuentes:orcidscopusCharacterization 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 JIJÓN, Verónica YumicebaFuentes:googleorcidscopusAllele 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:Alexandra Patricia Guevara, 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, Paola E. Leone, SANTIAGO XAVIER GUERRERO JIJÓN, Verónica YumicebaFuentes:googleorcidscopusAnalysis of Racial/Ethnic Representation in Select Basic and Applied Cancer Research Studies
ArticleAbstract: Over the past decades, consistent studies have shown that race/ethnicity have a great impact on cancPalabras claves:Autores:Alejandro Cabrera-Andrade, Alexandra Patricia Guevara, Ana Karina Zambrano, Andrés López-Cortés, Cesar Paz-y-Miño, D. A. González, INDACOCHEA A., Jennyfer M. García-Cárdenas, Paola E. Leone, SANTIAGO XAVIER GUERRERO JIJÓNFuentes:googleorcidscopusAncestral 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., Alexandra Patricia Guevara, Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Eliana Cabascango, Isaac Armendáriz-Castillo, Jennyfer García, Jennyfer M. García-Cárdenas, Paola E. Leone, Pérez-M G., SANTIAGO XAVIER GUERRERO JIJÓN, Verónica YumicebaFuentes:googleorcidscopus