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Molecular Genetics and Genomic Medicine(2)
Annals of Hematology(1)
BMC Medical Genomics(1)
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Cancer Genetics and Cytogenetics(1)
Clinical, 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:googlescopusAnalysis of HFE gene mutations (C282Y, H63D, and S65C) in the Ecuadorian population
ArticleAbstract: Type 1 hemochromatosis is a disorder of iron metabolism mostly related to the HFE gene mutations. InPalabras claves:C282Y, ECUADOR, H63D, HFE gene, S65C, Type 1 hemochromatosisAutores:Cesar Paz-y-Miño, Collantes J.C., Giménez P., Juan Carlos Collantes, Paola E. LeoneFuentes:googlescopusAllelic status of chromosome 1 in neoplasms of the nervous system
ArticleAbstract: By using five highly polymorphic markers, the allelic status of chromosome 1 was established in a sePalabras claves:Autores:Bello M.J., Cusak M.E., de Campos J.M., García-Miguel P., Hernández-Moneo J.L., Nebreda P., Paola E. Leone, Pestana A., Queizan A., Rey J.A., Sarasa J.L., Vaquero J.Fuentes:googlescopusGenetics and genomic medicine in ecuador
OtherAbstract:Palabras claves:Autores:Cesar Paz-y-Miño, Guillen Sacoto M.J., Paola E. LeoneFuentes:googlescopusMulti-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms
ArticleAbstract: Background: Detection of chromosomal abnormalities is crucial in various medical areas; to diagnosePalabras claves:chromosome alterations, chromosome polymorphisms, Cytogenetics, Genetic testingAutores:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Arianne Llamos Paneque, Burgos R.I., Cesar Paz-y-Miño, Cruz F., Echeverría-Garcés G., Garzón-Castro M., Guapi N V.H., Isaac Armendáriz-Castillo, Jenny Álvarez Vidal, Jennyfer M. García-Cárdenas, Jiménez Torres I., Juan Carlos Ruiz-Cabezas, Lamar-Segura E., Licuy P., Martha Montalván, Meneses Álvarez S., Moreta G., Naranjo M.E., Ocampo L., Ochoa Pérez C., P. Guevara-Ramírez, Paola E. Leone, Paredes R., Porras-Borja F., Ramón Miguel Vargas-Vera, Recalde-Báez M.A., Ruiz M., Santiago Xavier Guerrero, Sinche M., Tambaco Jijón N., Verónica YumicebaFuentes:googlescopusIntegration of global SNP-based mapping and expression arrays reveals key regions, mechanisms, and genes important in the pathogenesis of multiple myeloma
ArticleAbstract: Multiple myeloma is characterized by genomic alterations frequently involving gains and losses of chPalabras claves:Autores:Davies F.E., Gonzalez D., Jenner M.W., Johnson D.C., Li C., Morgan G.J., Paola E. Leone, Ross F.M., Walker B.A.Fuentes:googlescopusSearch for mutations of the hRAD54 gene in sporadic meningiomas with deletion at 1p32
ArticleAbstract: The hRAD54 gene is related to a family of genes involved in DNA recombination and repair and encodesPalabras claves:1p deletion mapping, Allelic losses, hRAD54, Meningiomas, Tumor progressionAutores:Alonso J., Bello M.J., de Campos J.M., Kusak M.E., Mendiola M., Paola E. Leone, Pestana A., Rey J.A., Sarasa J.L., Vaquero J.Fuentes:googlescopusY STRs mutation events in father-son pairs in Ecuadorian individuals
ArticleAbstract: Eleven Y-STR loci were applied to 417 confirmed father-son pairs. Seven mutations that comprise singPalabras claves:Ecuadorian population, Haplogroup, Mutation rate, short tandem repeats, Y chromosomeAutores:Aguirre V., Anibal Gaviria, Cesar Paz-y-Miño, Germán Burgos, Margarita Vela, Paola E. Leone, Sánchez M.E.Fuentes:scopusRing chromosome 15 - Cytogenetics and mapping arrays: A case report and review of the literature
ArticleAbstract: Background: Ring chromosome 15 has been associated in previous studies with different clinical charaPalabras claves:Cytogenetics, Mapping arrays, Ring 15, Ring reviewAutores:Ariane Paz-y-Miño, Cesar Paz-y-Miño, Francesca Velarde, García J.L., Hernández-Rivas J.M., Isaac Armendáriz-Castillo, Jaime Guevara-Aguirre, Paola E. Leone, Verónica YumicebaFuentes:googlescopusTcga 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, Cáncer, IN SILICO, TelomeresAutores:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Cesar Paz-y-Miño, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, P. Guevara-Ramírez, Paola E. Leone, Santiago Xavier Guerrero, Verónica YumicebaFuentes:scopus