Výsledky vyhledávání - "Restrepo, Carlos M."

Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family.

Autoři: Bernal-Bonilla, Ingrid Tatyana Arias-Florez, Juan Sebastian Ramirez, Sandra Ximena a další

Zdroj: Application of Clinical Genetics; Sep2025, Vol. 18, p165-173, 9p

Correction: ERS/ESICM/ESCMID/ALAT guidelines for the management of severe community-acquired pneumonia.

Autoři: Martin-Loeches, Ignacio Torres, Antoni Nagavci, Blin a další

Zdroj: Intensive Care Medicine; Aug2023, Vol. 49 Issue 8, p1040-1041, 2p

Témata: COMMUNITY-acquired pneumonia, RESPIRATORY diseases

Unraveling the Genome Diversity of Leishmania Parasites Using Next-Generation DNA Sequencing Strategies.

Autoři: Llanes, Alejandro Restrepo, Carlos M. Lleonart, Ricardo

Zdroj: Life (2075-1729); Oct2025, Vol. 15 Issue 10, p1590, 20p

Témata: LEISHMANIA, NUCLEOTIDE sequencing, LEISHMANIASIS, EPIDEMIOLOGY, GENETIC variation, TRYPANOSOMATIDAE

Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.

Autoři: Arias-Flórez, Juan Sebastian Ramirez, Sandra Ximena Bayona-Gomez, Bibiana a další

Zdroj: PLoS ONE; 12/26/2024, Vol. 19 Issue 12, p1-19, 19p

Témata: ETIOLOGY of diseases, DEEP learning, PROTEIN structure, NUCLEOTIDE sequencing, GENETIC disorders

Correction to: Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings.

Autoři: Aguillon, David Vasquez, Daniel Madrigal, Lucia a další

Zdroj: Molecular Neurobiology; Jun2022, Vol. 59 Issue 6, p3859-3859, 1p

Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer.

Autoři: Rodriguez-Salamanca, Juliana Angulo-Aguado, Mariana Orjuela-Amarillo, Sarah a další

Zdroj: Frontiers in Oncology; 2025, p1-20, 20p

Témata: NUCLEOTIDE sequencing, MEDICAL genetics, MEDICAL genomics, MOLECULAR pathology, ARTIFICIAL intelligence

Baseline gene expression in BALB/c and C57BL/6 peritoneal macrophages influences but does not dictate their functional phenotypes.

Autoři: Restrepo, Carlos M. Llanes, Alejandro Herrera, Lizzi a další

Zdroj: Experimental Biology & Medicine; 2025, p1-14, 14p

Comparison of Cost and Potency of Human Mesenchymal Stromal Cell Conditioned Medium Derived from 2- and 3-Dimensional Cultures.

Autoři: Madrigal, Marialaura Fernández, Patricia L. Lleonart, Ricardo a další

Zdroj: Bioengineering (Basel); Aug2023, Vol. 10 Issue 8, p930, 18p

Témata: MONONUCLEAR leukocytes, STROMAL cells, LIPOPOLYSACCHARIDES

Gene expression patterns associated with Leishmania panamensis infection in macrophages from BALB/c and C57BL/6 mice.

Autoři: Restrepo, Carlos M. Llanes, Alejandro Herrera, Lizzi a další

Zdroj: PLoS Neglected Tropical Diseases; 2/22/2021, Vol. 15 Issue 2, p1-20, 20p

Témata: LEISHMANIA mexicana, LABORATORY mice, GENE expression, IMMUNOREGULATION, MACROPHAGES, LEISHMANIA

Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations.

Autoři: Fernando Parada-Márquez, Juan David Maldonado-Rodriguez, Nicolás Triana-Fonseca, Paula a další

Zdroj: Frontiers in Pharmacology; 3/20/2023, Vol. 14, p1-10, 10p

Témata: PHARMACOGENOMICS, DRUG side effects, DRUG utilization, MISSENSE mutation, ANESTHESIA, GENETIC variation

Advances in Leishmania Vaccines: Current Development and Future Prospects.

Autoři: Ayala, Andreina Llanes, Alejandro Lleonart, Ricardo a další

Zdroj: Pathogens; Sep2024, Vol. 13 Issue 9, p812, 18p

Témata: DNA vaccines, NEGLECTED diseases, VACCINE trials, VACCINE development, LEISHMANIASIS

Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings.

Autoři: Aguillon, David Vasquez, Daniel Madrigal, Lucia a další

Zdroj: Molecular Neurobiology; Jun2022, Vol. 59 Issue 6, p3845-3858, 14p

Author index.

Zdroj: Transfusion; Oct2023 Supplement 1, Vol. 63, p324A-341A, 1p

Design and manufacture of an X-ray generator by support vector machines.

Autoři: Hernández-López, Eymard Pérez-Pérez, Emilio Wences, Giovanni

Zdroj: Evolutionary Intelligence; Apr2024, Vol. 17 Issue 2, p1235-1244, 10p

Genome-wide discovery and development of polymorphic microsatellites from Leishmania panamensis parasites circulating in central Panama.

Autoři: Restrepo, Carlos M. Llanes, Alejandro De La Guardia, Carolina a další

Zdroj: Parasites & Vectors; 10/12/2015, Vol. 8 Issue 1, p1-6, 6p

Témata: GENOMES, MICROSATELLITE repeats, LEISHMANIA, PARASITES, LEISHMANIASIS, BIOMARKERS

Geografický termín: PANAMA

Epidemiological Aspects of Maternal and Congenital Toxoplasmosis in Panama.

Autoři: Flores, Carlos Villalobos-Cerrud, Delba Borace, Jovanna a další

Zdroj: Pathogens; Jun2021, Vol. 10 Issue 6, p764-764, 1p

Témata: TOXOPLASMOSIS, MULTIVARIATE analysis, FERAL dogs, MATERNAL age, BIVARIATE analysis, PET care, SEROPREVALENCE

Geografický termín: PANAMA, CENTRAL America

Identification of clinically relevant phenotypes in patients with Ebstein anomaly.

Autoři: Cabrera, Rodrigo Miranda‐Fernández, Marta Catalina Huertas‐Quiñones, Victor Manuel a další

Zdroj: Clinical Cardiology; Mar2018, Vol. 41 Issue 3, p343-348, 6p

Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2.

Autoři: Miranda-Fernández, Marta-Catalina Ramírez-Oyaga, Silvia Restrepo, Carlos M. a další

Zdroj: Molecular Syndromology; 2018, Vol. 9 Issue 3, p164-169, 6p

Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity.

Autoři: Yupanqui-Lozno, Hernan Bastarrachea, Raul A. Yupanqui-Velazco, Maria E. a další

Zdroj: Genes; May2019, Vol. 10 Issue 5, p342, 1p

Témata: LEPTIN, MISSENSE mutation, SISTERS, OBESITY, NUCLEOTIDE sequence, GENETIC disorders

Geografický termín: COLOMBIA, SOUTH America

Frequency of Toxoplasma gondii and Risk Factors Associated with the Infection in Stray Dogs and Cats of Panama.

Autoři: Fábrega, Lorena Restrepo, Carlos M. Torres, Alicia a další

Zdroj: Microorganisms; Jun2020, Vol. 8 Issue 6, p927-927, 1p

Témata: TOXOPLASMA gondii, FERAL dogs, FELIDAE, CATS, SERODIAGNOSIS, PARASITES, INFECTION

Geografický termín: PANAMA (Panama)