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Forensic Science International: Genetics Supplement Series(9)
American Journal of the Medical Sciences(3)
BioMed Research International(3)
American Journal of Human Biology(1)
Archivos de Neurociencias(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:googlescopusAssociation of genetic variants of membrane receptors related to recognition and induction of immune response with Helicobacter pylori infection in Ecuadorian individuals
ArticleAbstract: Helicobacter pylori (Hp) has a worldwide distribution showing its higher prevalence of infection inPalabras claves:Autores:Alejandro Cabrera-Andrade, Andrés López-Cortés, Cesar Paz-y-Miño, Gabriela Fernanda Jaramillo-Koupermann, María José G. Muñoz, O. Rodriguez, Paola E. LeoneFuentes: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:googlescopusAncestry characterization of Ecuador's Highland mestizo population using autosomal AIM-INDELs
ArticleAbstract: Ancestry Informative Insertion-Deletion markers have been used as a tool to infer the origin of popuPalabras claves:admixture, Ancestry, EcuadoriansAutores:Alejandro Cabrera-Andrade, Ana Karina Zambrano, Andrés López-Cortés, Anibal Gaviria, Cesar Paz-y-Miño, Fiallo G., Gruezo C., Jennyfer M. García-Cárdenas, Margarita Vela, Paola E. Leone, S. CobosFuentes:googlescopus15q Duplication Syndrome: Report on the First Patient from Ecuador with an Unusual Clinical Presentation
ArticleAbstract: Background. The 15q11.1-13.1 duplication, also known as Dup15q syndrome, is a rare congenital diseasPalabras claves:Autores:Alejandro Cabrera-Andrade, Ana Lucía Iturralde, Andrés López-Cortés, Arteaga-Espinosa M.E., Espinosa N., Esteban Ortiz-Prado, Hidalgo I., Juan S. Izquierdo-Condoy, Katherine Simbaña-Rivera, Lenin Gómez-Barreno, Lister A., Rubio-Neira M.Fuentes:scopusA 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:scopusAllele 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:googlescopusFrequency of GJB2 and del(GJB6-D13S1830) mutations among an Ecuadorian mestizo population
ArticleAbstract: Objective: The frequency of GJB2 mutations and of the del(GJB6-D13S1830) mutation has not been estabPalabras claves:Autosomal recessive non-syndromic hearing loss, Del(GJB6-D13S1830), Ecuadorian mestizo population, Genetic heterogeneity, GJB2, Incomplete penetranceAutores:Andrés López-Cortés, Beaty D., Cesar Paz-y-Miño, Proaño I.Fuentes:googlescopusFrequency of polymorphisms pro198leu in GPX-1 gene and ile58thr in MnSOD gene in the altitude ecuadorian population with bladder cancer
ArticleAbstract: Bladder cancer represents 8% of all malignancies diagnosed in men and 3% in women. The risk factorsPalabras claves:bladder cancer, GPX-1, Ile58thr, MnSOD, Pro198leuAutores:Alejandro Cabrera-Andrade, Andrés López-Cortés, Castro B., Cesar Paz-y-Miño, María José G. Muñoz, María-Eugenia Sánchez, Palacios A., Paz-y-Miño N.Fuentes:googlescopus