Zobrazeno 1 - 10 of 15 pro vyhledávání: '"Karena Espinoza"'
1
Akademický článek
A Novel Gemcitabine-Resistant Gallbladder Cancer Model Provides Insights into Molecular Changes Occurring during Acquired Resistance
Autor: Luis Vergara-Gómez, Carolina Bizama, Jun Zhong, Kurt Buchegger, Felipe Suárez, Lorena Rosa, Carmen Ili, Helga Weber, Javiera Obreque, Karena Espinoza, Gabriela Repetto, Juan C. Roa, Pamela Leal, Patricia García
Publikováno v: International Journal of Molecular Sciences, Vol 24, Iss 8, p 7238 (2023)
Treatment options for advanced gallbladder cancer (GBC) are scarce and usually rely on cytotoxic chemotherapy, but the effectiveness of any regimen is limited and recurrence rates are high. Here, we investigated the molecular mechanisms of acquired r
Externí odkaz: https://doaj.org/article/f85b56d5790f4420afe4ac658218f7ba
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2
Akademický článek
Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients
Autor: Luis E. León, Felipe Benavides, Karena Espinoza, Cecilia Vial, Patricia Alvarez, Mirta Palomares, Guillermo Lay-Son, Macarena Miranda, Gabriela M. Repetto
Publikováno v: Scientific Reports, Vol 7, Iss 1, Pp 1-8 (2017)
Abstract 22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion disorder in humans, with an incidence of 1/4000 live births. It is caused by a heterozygous deletion of 1.5–3 Mb on chromosome region 22q11.2. Patients with the de
Externí odkaz: https://doaj.org/article/2e39aa5fc72643b7af61069b62955f25
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3
Akademický článek
Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies
Autor: Guillermo Lay-Son, Karena Espinoza, Cecilia Vial, Juan C. Rivera, María L. Guzmán, Gabriela M. Repetto
Publikováno v: Jornal de Pediatria, Vol 91, Iss 2, Pp 189-195 (2015)
OBJECTIVES: Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This study reports the first experienc
Externí odkaz: https://doaj.org/article/1064819d1a094f72b960839e9342212d
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4
Adaptation to Extreme Environments in an Admixed Human Population from the Atacama Desert
Autor: Karena Espinoza, Lucas Vicuña, Mario I. Fernández, Cecilia Vial, Annemarie Ziegler, Eduardo Chaparro, Susana Eyheramendy, Patricio Valdebenito, Alberto Bustamante
Publikováno v: Genome Biology and Evolution
Inorganic arsenic (As) is a toxic xenobiotic and carcinogen associated with severe health conditions. The urban population from the Atacama Desert in northern Chile was exposed to extremely high As levels (up to 600 µg/l) in drinking water between 1
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f3b6e81be98df433d4f0a33c85cf60e
https://doi.org/10.1093/gbe/evz172
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5
Efecto de las variantes de VKORC1 y CYP2C9 sobre la dosis de anticoagulantes orales en individuos chilenos
Autor: Felipe Cáceres, Karena Espinoza, Marcela Lagos, Daniel Araos, Felipe Benavides, Nicole Grossman, Ignaz Ibarra, Marcos Vasquez, Helena Poggi, Elena Nieto, Gabriela Repetto M, Antonio Bertrán
Publikováno v: Revista médica de Chile. 143:1369-1376
Background: The dose of oral anticoagulants (OAC) shows great variability among patients. Pharmacogenetic studies have shown that common variants in genes CYP2C9 (*2 and *3) and VKORC1 (-1639G>A) are associated with lower requirements of OAC. Aim: To
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9ed5016bb3310a815f2c00398eefc1c7
https://doi.org/10.4067/s0034-98872015001100001
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6
Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies
Autor: Karena Espinoza, Gabriela M. Repetto, Cecilia Vial, Guillermo Lay-Son, Maria Luisa Guzman, Juan Carlos Rivera
Publikováno v: Jornal de Pediatria v.91 n.2 2015
Jornal de Pediatria
Sociedade Brasileira de Pediatria (SBP)
instacron:SBPE
Jornal de Pediatria, Vol 91, Iss 2, Pp 189-195 (2015)
Jornal de Pediatria (Versão em Português), Vol 91, Iss 2, Pp 189-195 (2015)
Jornal de Pediatria, Volume: 91, Issue: 2, Pages: 189-195, Published: APR 2015
Objectives: Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This study reports the first experienc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17206c7801926c15534601daa5849c9d
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7
Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review
Autor: Karena Espinoza, Oscar Pizarro, Mariana Aracena, Guillermo Lay-Son, Sofía Catena
Publikováno v: Molecular syndromology. 9(1)
Proximal deletion of 6q is a relatively rare chromosomal abnormality. Reported patients have deletions of different sizes but share partial overlap and present with similar clinical features, and some of them were described prior to the introduction
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f78bdeee0f883c6ddcad6f3dbf9cf6c7
https://pubmed.ncbi.nlm.nih.gov/29456478
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8
Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients
Autor: Karena Espinoza, Patricia Alvarez, Felipe Benavides, Guillermo Lay-Son, Macarena Miranda, Luis E. Leon, Mirta Palomares, Gabriela M. Repetto, Cecilia Vial
Publikováno v: Scientific Reports
Scientific Reports, Vol 7, Iss 1, Pp 1-8 (2017)
22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion disorder in humans, with an incidence of 1/4000 live births. It is caused by a heterozygous deletion of 1.5–3 Mb on chromosome region 22q11.2. Patients with the deletion pr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6519ea1802127eb37a7cbfa8fd562872
http://europepmc.org/articles/PMC5431949
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9
Diagnóstico de intolerancia a la lactosa en adultos: rendimiento comparativo de la clínica, test de hidrógeno espirado y test genético
Autor: Soledad Quesada, Alonso Puga, Mary Hatton, Gabriela M. Repetto, Cecilia Vial, Antonio Rollán, Karena Espinoza
Publikováno v: Revista médica de Chile v.140 n.9 2012
SciELO Chile
CONICYT Chile
instacron:CONICYT
Background: Genetically programmed adult-type hypolactasia affects 56% of Chilean population. Ideally, diagnosis should be confirmed. Aim: To compare diagnostic yield of genetic test, hydrogen (H2) expiratory test and a validated symptomatic structur
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21dd2dcf63b8c371546d54919ee138a6
https://doi.org/10.4067/s0034-98872012000900001
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