Search Results - "Jiménez, Karen Marcela"

Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations by Fonseca, Dora Janeth, Ph.D, Patiño, Liliana Catherine, M.Sc, Suárez, Yohjana Carolina, M.Sc, de Jesús Rodríguez, Asid, M.Sc, Mateus, Heidi Eliana, M.D., M.Sc, Jiménez, Karen Marcela, M.Sc, Ortega-Recalde, Oscar, M.D., M.Sc, Díaz-Yamal, Ivonne, M.D, Laissue, Paul, M.D., Ph.D

“…Objective To identify new molecular actors involved in nonsyndromic premature ovarian failure (POF) etiology. Design This is a retrospective case-control…”
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FOXD1 mutations are related to repeated implantation failure, intra-uterine growth restriction and preeclampsia by Quintero-Ronderos, Paula, Jiménez, Karen Marcela, Esteban-Pérez, Clara, Ojeda, Diego A, Bello, Sandra, Fonseca, Dora Janeth, Coronel, María Alejandra, Moreno-Ortiz, Harold, Sierra-Díaz, Diana Carolina, Lucena, Elkin, Barbaux, Sandrine, Vaiman, Daniel, Laissue, Paul

“…Human reproductive disorders consist of frequently occurring dysfunctions including a broad range of phenotypes affecting fertility and women's health during…”
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Performance Comparison of a Duplex Implementation of the CDC EUA 2019-nCoV Assay with the Seegene Allplex-SARS-CoV-2 Assay for the Detection of SARS-CoV-2 in Nasopharyngeal Swab Samples by Jiménez, Karen Marcela, Fonseca-Mendoza, Dora Janeth, Morel, Adrien, Ortega-Recalde, Oscar, Contreras Bravo, Nora Constanza, Velandia-Piedrahita, Camilo Andres, Steevens, Adriana, Caldas, Luisa Daniela, Ribón, Juan Pablo, Sánchez, Martha, Restrepo, Carlos Martin, Cabrera, Rodrigo

“…RT-PCR tests have become the gold standard for detecting the SARS-CoV-2 virus in the context of the COVID-19 pandemic. Because of the extreme number of cases…”
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Transcriptomic analysis of FUCA1 knock‐down in keratinocytes reveals new insights into the pathogenesis of fucosidosis skin lesions by Valero‐Rubio, Danyela, Jiménez, Karen Marcela, Fonseca, Dora Janeth, Payán‐Gómez, César, Laissue, Paul

“…Fucosidosis is a rare lysosomal storage disease which has been classified into two subtypes, depending on the severity of clinical signs and symptoms…”
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Linking genotype to trophoblast phenotype in preeclampsia and HELLP syndrome associated with STOX1 genetic variants by Costa, Lorenzo, Bermudez-Guzman, Luis, Benouda, Ikram, Laissue, Paul, Morel, Adrien, Jiménez, Karen Marcela, Fournier, Thierry, Stouvenel, Laurence, Méhats, Céline, Miralles, Francisco, Vaiman, Daniel

“…Preeclampsia is a major hypertensive pregnancy disorder with a 50% heritability. The first identified gene involved in the disease is STOX1, a transcription…”
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Identifying new potential genetic biomarkers for HELLP syndrome using massive parallel sequencing by Jiménez, Karen Marcela, Morel, Adrien, Parada-Niño, Laura, Alejandra González-Rodriguez, María, Flórez, Stephanie, Bolívar-Salazar, David, Becerra-Bayona, Silvia, Aguirre-García, Angel, Gómez-Murcia, Tatiana, Fernanda Castillo, Luisa, Carlosama, Carolina, Ardila, Javier, Vaiman, Daniel, Serrano, Norma, Laissue, Paul

“…•Research into HELLP’s genetic origin has been relatively unsuccessful.•We performed whole-exome sequencing of 79 unrelated HELLP women.•We used robust in…”
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Transcriptomic analysis of FUCA 1 knock‐down in keratinocytes reveals new insights into the pathogenesis of fucosidosis skin lesions by Valero‐Rubio, Danyela, Jiménez, Karen Marcela, Fonseca, Dora Janeth, Payán‐Gómez, César, Laissue, Paul

“…Abstract Fucosidosis is a rare lysosomal storage disease which has been classified into two subtypes, depending on the severity of clinical signs and symptoms…”
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