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BioMed Research International(4)
Frontiers in Pharmacology(3)
Forensic Science International: Genetics Supplement Series(2)
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Scientific Reports(2)
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, cytogenetic, and genomic analyses of an Ecuadorian subject with Klinefelter syndrome, recessive hemophilia A, and 1;19 chromosomal translocation: a case report
ArticleAbstract: Background: Hemophilia A is considered one of the most common severe hebkp_reditary disorders. It isPalabras claves:Chromosomal translocation, Hemophilia A, Klinefelter SyndromeAutores:Ana Karina Zambrano, Anibal Gaviria, Cevallos F., Elius Paz-Cruz, P. Guevara-Ramírez, Rafael Tamayo-Trujillo, Santiago Cadena-Ullauri, Viviana A. Ruiz-PozoFuentes:scopusClinical, 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:googlescopusAnalysis 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, Ana Karina Zambrano, Andrés López-Cortés, Cesar Paz-y-Miño, D. A. González, INDACOCHEA A., Jennyfer M. García-Cárdenas, P. Guevara-Ramírez, Paola E. Leone, Santiago Xavier GuerreroFuentes: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 study in Ecuadorian population with multiple myeloma
ArticleAbstract: Multiple myeloma (MM) is a type of hematologic cancer that mainly affects the afro-descendant populaPalabras claves:Ancestry, ECUADOR, Multiple myelomaAutores:Alejandro Cabrera-Andrade, Ana Karina Zambrano, Andrés López-Cortés, Cesar Paz-y-Miño, D. A. González, Jennyfer García, Jennyfer M. García-Cárdenas, P. Guevara-Ramírez, Paola E. LeoneFuentes:googlescopusA New Insight for the Identification of Oncogenic Variants in Breast and Prostate Cancers in Diverse Human Populations, With a Focus on Latinos
ArticleAbstract: Background: Breast cancer (BRCA) and prostate cancer (PRCA) are the most commonly diagnosed cancer tPalabras claves:Breast, latino population, oncogenic variants, precision oncology, prostateAutores:Acevedo C., Andrés López-Cortés, Isaac Armendáriz-Castillo, P. Guevara-Ramírez, Quiñones L.A., Santiago Xavier Guerrero, Varela N.M., Zambrano T.Fuentes: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:googlescopusCase report: Genomic screening for inherited cardiac conditions in Ecuadorian mestizo relatives: Improving familial diagnose
ArticleAbstract: Introduction: Genomic screening is an informative and helpful tool for the clinical management of inPalabras claves:ancestral, Cardiovascular disease, Case report, Genetics, genomicAutores:Ana Karina Zambrano, Doménech N., Elius Paz-Cruz, Ibarra-Rodríguez A.A., P. Guevara-Ramírez, Rafael Tamayo-Trujillo, Sánchez Insuasty T., Santiago Cadena-Ullauri, Viviana A. Ruiz-PozoFuentes:scopusGenomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report
ArticleAbstract: Introduction: Cardiac laminopathies are caused by mutations in the LMNA gene and include a wide rangPalabras claves:Cardiovascular disease, genome, LMNA, NGS, Precision MedicineAutores:Ana Karina Zambrano, Doménech N., Elius Paz-Cruz, Ibarra-Castillo R., Ibarra-Rodríguez A.A., Laso-Bayas J.L., P. Guevara-Ramírez, Rafael Tamayo-Trujillo, Santiago Cadena-Ullauri, Viviana A. Ruiz-PozoFuentes:scopus