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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, 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:googlescopusA new subhaplogroup of native American Y-Chromosomes from the Andes
ArticleAbstract: The human Y chromosome contains highly informative markers for making historical inferences about thPalabras claves:Andes, SNP, SOUTH AMERICA, Y chromosomeAutores:Bisso-Machado R., Bonatto S.L., Bortolini M.C., Cesar Paz-y-Miño, Fujita R., Jota M.S., Lacerda D.R., Paixão-Cortes V.R., Revollo S., Salzano F.M., Sandoval J.R., Santos F.R., Santos-Lopes S.S., Vieira P.P.R.Fuentes:googlescopusA polymorphism in the hMSH2 gene (gIVS12-6T> C) associated with non-Hodgkin lymphomas
OtherAbstract: DNA common variants may significantly contribute to genetic risk for common diseases. Because of itsPalabras claves:Autores:Cesar Paz-y-MiñoFuentes:googleA polymorphism in the human MSH2 gene associated with increased susceptibility to lymphomas.
OtherAbstract:Palabras claves:Autores:Cesar Paz-y-MiñoFuentes:googleA study of the molecular variants associated with lactase persistence in different Ecuadorian ethnic groups
ArticleAbstract: Objective: Lactase persistence (LP) is an adaptive trait that certain human populations have acquirePalabras claves:Autores:Alejandro Cabrera-Andrade, Andrés López-Cortés, Anibal Gaviria, Camilo Herrera, Cesar Paz-y-Miño, Eduardo Tejera, Germán BurgosFuentes:scopusCharacterization and Haplotype analysis of 11 Y-STR loci in Ecuadorian population
ArticleAbstract: Eleven Y-STR loci were used for genotyping 206 Ecuadorian individuals. Allelic frequencies and haploPalabras claves:Allelic frequency, Ecuadorian population, Haplogroup, Haplotype diversity, Y-STRAutores:, Aguirre V., Anibal Gaviria, Cesar Paz-y-Miño, Germán Burgos, Margarita Vela, María-Eugenia Sánchez, Morejon G., Paola E. LeoneFuentes: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, Verónica YumicebaFuentes:googlescopusChromosome fragility in lymphocytes of women with cervical uterine lesions produced by human papillomavirus
ArticleAbstract: We studied 30 women with cervical lesions that showed human papillomavirus infection (HPV). CervicalPalabras claves:Autores:Cesar Paz-y-Miño, Narváez L., Narváez R., Ocampo L.Fuentes:googlescopusClinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: Case report and literature review
ArticleAbstract: Background: Since 1969, 49 cases have been presented on ring chromosome 4. All of these cases have bPalabras claves:46,XX,r(4)(p16.3q35.2), FISH, inv dup del rearrangement, Mapping array, Mosaic, Ring chromosome 4Autores:Ana Proaño, Cesar Paz-y-Miño, García J.L., Hernández-Rivas J.M., Paola E. Leone, Stella D. VerdezotoFuentes: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, Verónica YumicebaFuentes:googlescopus