Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis
Meinel, Jakob A, Yumiceba, Verónica, Künstner, Axel, Schultz, Kristin, Kruse, Nathalie, Kaiser, Frank J, Holterhus, Paul-Martin, Claviez, Alexander, Hiort, Olaf, Busch, Hauke, Spielmann, Malte, Werner, Ralf
Published in Journal of medical genetics (01.05.2023)
Published in Journal of medical genetics (01.05.2023)
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Journal Article
The close interaction between hypoxia-related proteins and metastasis in pancarcinomas
López-Cortés, Andrés, Prathap, Lavanya, Ortiz-Prado, Esteban, Kyriakidis, Nikolaos C., León Cáceres, Ángela, Armendáriz-Castillo, Isaac, Vera-Guapi, Antonella, Yumiceba, Verónica, Simbaña-Rivera, Katherine, Echeverría-Garcés, Gabriela, García-Cárdenas, Jennyfer M., Pérez-Villa, Andy, Guevara-Ramírez, Patricia, Abad-Sojos, Andrea, Bautista, Jhommara, Puig San Andrés, Lourdes, Varela, Nelson, Guerrero, Santiago
Published in Scientific reports (30.06.2022)
Published in Scientific reports (30.06.2022)
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Journal Article
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult‐Onset Demyelinating Leukodystrophy
Dimartino, Paola, Zadorozhna, Mariia, Yumiceba, Verónica, Basile, Anna, Cani, Ilaria, Melo, Uirá Souto, Henck, Jana, Breur, Marjolein, Tonon, Caterina, Lodi, Raffaele, Brusco, Alfredo, Pippucci, Tommaso, Koufi, Foteini‐Dionysia, Boschetti, Elisa, Ramazzotti, Giulia, Manzoli, Lucia, Ratti, Stefano, Pinto E Vairo, Filippo, Delatycki, Martin B., Vaula, Giovanna, Cortelli, Pietro, Bugiani, Marianna, Spielmann, Malte, Giorgio, Elisa
Published in Annals of neurology (01.11.2024)
Published in Annals of neurology (01.11.2024)
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Journal Article
Post-transcriptional Regulation of Colorectal Cancer: A Focus on RNA-Binding Proteins
García-Cárdenas, Jennyfer M, Guerrero, Santiago, López-Cortés, Andrés, Armendáriz-Castillo, Isaac, Guevara-Ramírez, Patricia, Pérez-Villa, Andy, Yumiceba, Verónica, Zambrano, Ana Karina, Leone, Paola E, Paz-Y-Miño, César
Published in Frontiers in molecular biosciences (07.08.2019)
Published in Frontiers in molecular biosciences (07.08.2019)
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Journal Article
Genotoxic and Carcinogenic Potential of Compounds Associated with Electronic Cigarettes: A Systematic Review
Zambrano, Ana K., Leone, Paola E., Paz-y-Miño, César, Pérez-Villa, Andy, López-Cortés, Andrés, Guevara-Ramírez, Patricia, García-Cárdenas, Jennyfer M., Cevallos-Vilatuña, Tiffany, Vera-Guapi, Antonella, Guerrero, Santiago, Armendáriz-Castillo, Isaac, Yumiceba, Verónica
Published in BioMed research international (2019)
Published in BioMed research international (2019)
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Journal Article
Pulmonary Inflammatory Response in Lethal COVID-19 Reveals Potential Therapeutic Targets and Drugs in Phases III/IV Clinical Trials
López-Cortés, Andrés, Guerrero, Santiago, Ortiz-Prado, Esteban, Yumiceba, Verónica, Vera-Guapi, Antonella, León Cáceres, Ángela, Simbaña-Rivera, Katherine, Gómez-Jaramillo, Ana María, Echeverría-Garcés, Gabriela, García-Cárdenas, Jennyfer M, Guevara-Ramírez, Patricia, Cabrera-Andrade, Alejandro, Puig San Andrés, Lourdes, Cevallos-Robalino, Doménica, Bautista, Jhommara, Armendáriz-Castillo, Isaac, Pérez-Villa, Andy, Abad-Sojos, Andrea, Ramos-Medina, María José, León-Sosa, Ariana, Abarca, Estefanía, Pérez-Meza, Álvaro A, Nieto-Jaramillo, Karol, Jácome, Andrea V, Morillo, Andrea, Arias-Erazo, Fernanda, Fuenmayor-González, Luis, Quiñones, Luis Abel, Kyriakidis, Nikolaos C
Published in Frontiers in pharmacology (29.03.2022)
Published in Frontiers in pharmacology (29.03.2022)
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Journal Article
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report
García-Cárdenas, Jennyfer M, Zambrano, Ana Karina, Guevara-Ramírez, Patricia, Guerrero, Santiago, Runruil, Gabriel, López-Cortés, Andrés, Torres-Yaguana, Jorge P, Armendáriz-Castillo, Isaac, Pérez-Villa, Andy, Yumiceba, Verónica, Leone, Paola E, Paz-Y-Miño, César
Published in Journal of medical case reports (31.08.2020)
Published in Journal of medical case reports (31.08.2020)
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Journal Article
Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR
Yumiceba, Verónica, Leone, Paola E., Guevara-Ramírez, Patricia, López-Cortés, Andrés, Guerrero, Santiago, García-Cárdenas, Jennyfer M., Armendáriz-Castillo, Isaac, Ruiz-Cabezas, Juan Carlos, Zambrano, Ana Karina, Paz-y-Miño, César, Pérez-Villa, Andy
Published in BioMed research international (2020)
Published in BioMed research international (2020)
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Journal Article
When too much is too much: noncoding duplications in skin disorders
Yumiceba, Verónica, Spielmann, Malte
Published in British journal of dermatology (1951) (23.01.2023)
Published in British journal of dermatology (1951) (23.01.2023)
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Journal Article
Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature
Paz-Y-Miño, César, Guevara-Aguirre, Jaime, Paz-Y-Miño, Ariane, Velarde, Francesca, Armendáriz-Castillo, Isaac, Yumiceba, Verónica, Hernández, Jesús María, García, Juan Luis, Leone, Paola E
Published in Journal of medical case reports (16.11.2018)
Published in Journal of medical case reports (16.11.2018)
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Journal Article
De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation
Leone, Paola E., Pérez-Villa, Andy, Yumiceba, Verónica, Hernández, María Ángeles, García-Cárdenas, Jennyfer M., Armendáriz-Castillo, Isaac, Guerrero, Santiago, Guevara-Ramírez, Patricia, López-Cortés, Andrés, Zambrano, Ana Karina, García, Juan Luis, Hernández, Jesús María, Paz-y-Miño, César
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.03.2020)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.03.2020)
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Journal Article
Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms
Paz‐y‐Miño, César, Yumiceba, Verónica, Moreta, Germania, Paredes, Rosario, Ruiz, Mónica, Ocampo, Ligia, Llamos Paneque, Arianne, Ochoa Pérez, Catalina, Ruiz‐Cabezas, Juan Carlos, Álvarez Vidal, Jenny, Jiménez Torres, Idarmis, Vargas‐Vera, Ramón, Cruz, Fernando, Guapi N, Víctor Hugo, Montalván, Martha, Meneses Álvarez, Sara, Garzón Castro, Maribel, Lamar Segura, Elizabeth, Recalde Báez, María Augusta, Naranjo, María Elena, Tambaco Jijón, Nina, Sinche, María, Licuy, Pedro, Burgos, Ramiro, Porras‐Borja, Fabián, Echeverría‐Garcés, Gabriela, Pérez‐Villa, Andy, Armendáriz‐Castillo, Isaac, García‐Cárdenas, Jennyfer M., Guerrero, Santiago, Guevara‐Ramírez, Patricia, López‐Cortés, Andrés, Zambrano, Ana Karina, Leone, Paola E.
Published in Molecular genetics & genomic medicine (01.02.2020)
Published in Molecular genetics & genomic medicine (01.02.2020)
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Journal Article
Oncology and Pharmacogenomics Insights in Polycystic Ovary Syndrome: An Integrative Analysis
Yumiceba, Verónica, López-Cortés, Andrés, Pérez-Villa, Andy, Yumiseba, Iván, Guerrero, Santiago, García-Cárdenas, Jennyfer M, Armendáriz-Castillo, Isaac, Guevara-Ramírez, Patricia, Leone, Paola E, Zambrano, Ana Karina, Paz-Y-Miño, César
Published in Frontiers in endocrinology (Lausanne) (26.10.2020)
Published in Frontiers in endocrinology (Lausanne) (26.10.2020)
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Journal Article
A quick guide for using Microsoft OneNote as an electronic laboratory notebook
Guerrero, Santiago, López-Cortés, Andrés, García-Cárdenas, Jennyfer M, Saa, Pablo, Indacochea, Alberto, Armendáriz-Castillo, Isaac, Zambrano, Ana Karina, Yumiceba, Verónica, Pérez-Villa, Andy, Guevara-Ramírez, Patricia, Moscoso-Zea, Oswaldo, Paredes, Joel, Leone, Paola E, Paz-Y-Miño, César
Published in PLoS computational biology (01.05.2019)
Published in PLoS computational biology (01.05.2019)
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Journal Article
The three-hybrid genetic composition of an Ecuadorian population using AIMs-InDels compared with autosomes, mitochondrial DNA and Y chromosome data
Zambrano, Ana Karina, Gaviria, Aníbal, Cobos-Navarrete, Santiago, Gruezo, Carmen, Rodríguez-Pollit, Cristina, Armendáriz-Castillo, Isaac, García-Cárdenas, Jennyfer M., Guerrero, Santiago, López-Cortés, Andrés, Leone, Paola E., Pérez-Villa, Andy, Guevara-Ramírez, Patricia, Yumiceba, Verónica, Fiallos, Gisella, Vela, Margarita, Paz-y-Miño, César
Published in Scientific reports (25.06.2019)
Published in Scientific reports (25.06.2019)
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Journal Article
Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report
López-Cortés, Andrés, Zambrano, Ana Karina, Guevara-Ramírez, Patricia, Echeverría, Byron Albuja, Guerrero, Santiago, Cabascango, Eliana, Pérez-Villa, Andy, Armendáriz-Castillo, Isaac, García-Cárdenas, Jennyfer M, Yumiceba, Verónica, Pérez-M, Gabriela, Leone, Paola E, Paz-Y-Miño, César
Published in BMC medical genomics (17.08.2020)
Published in BMC medical genomics (17.08.2020)
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Journal Article
Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon
Pozojevic, Jelena, Algodon, Shela Marie, Cruz, Joseph Neos, Trinh, Joanne, Brüggemann, Norbert, Laß, Joshua, Grütz, Karen, Schaake, Susen, Tse, Ronnie, Yumiceba, Veronica, Kruse, Nathalie, Schulz, Kristin, Sreenivasan, Varun K A, Rosales, Raymond L, Jamora, Roland Dominic G, Diesta, Cid Czarina E, Matschke, Jakob, Glatzel, Markus, Seibler, Philip, Händler, Kristian, Rakovic, Aleksandar, Kirchner, Henriette, Spielmann, Malte, Kaiser, Frank J, Klein, Christine, Westenberger, Ana
Published in International journal of molecular sciences (17.02.2022)
Published in International journal of molecular sciences (17.02.2022)
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Journal Article
Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report
Leone, Paola E, Yumiceba, Verónica, Jijón-Vergara, Ariana, Pérez-Villa, Andy, Armendáriz-Castillo, Isaac, García-Cárdenas, Jennyfer M, Guerrero, Santiago, Guevara-Ramírez, Patricia, López-Cortés, Andrés, Zambrano, Ana K, Hernández-Rivas, Jesús M, García, Juan Luis, Paz-y-Miéo, César
Published in Molecular cytogenetics (13.11.2020)
Published in Molecular cytogenetics (13.11.2020)
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Journal Article
TCGA Pan-Cancer Genomic Analysis of Alternative Lengthening of Telomeres (ALT) Related Genes
Armendáriz-Castillo, Isaac, López-Cortés, Andrés, García-Cárdenas, Jennyfer, Guevara-Ramírez, Patricia, Leone, Paola E, Pérez-Villa, Andy, Yumiceba, Verónica, Zambrano, Ana K, Guerrero, Santiago, Paz-Y-Miño, César
Published in Genes (21.07.2020)
Published in Genes (21.07.2020)
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Journal Article
Isocitrate dehydrogenase 1 mutation drives leukemogenesis by PDGFRA activation due to insulator disruption in acute myeloid leukemia (AML)
Steinhäuser, Sophie, Silva, Patricia, Lenk, Lennart, Beder, Thomas, Hartmann, Alina, Hänzelmann, Sonja, Fransecky, Lars, Neumann, Martin, Bastian, Lorenz, Lipinski, Simone, Richter, Kathrin, Bultmann, Miriam, Hübner, Emely, Xia, Shuli, Röllig, Christoph, Vogiatzi, Fotini, Schewe, Denis Martin, Yumiceba, Veronica, Schultz, Kristin, Spielmann, Malte, Baldus, Claudia Dorothea
Published in Leukemia (01.01.2023)
Published in Leukemia (01.01.2023)
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Journal Article