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15q 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:scopusCharacterization 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: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: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., Alexandra Patricia Guevara, 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, 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, Andrés López-Cortés, Anibal Gaviria, Cesar Paz-y-Miño, Fiallo G., Gruezo C., Jennyfer M. García-Cárdenas, Margarita Vela, Paola E. Leone, S. CobosFuentes: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:, Alexandra Patricia Guevara, 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, 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