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Page 1
Genetic and Molecular Aspects of Drug-Induced QT Interval Prolongation.
Baracaldo-Santamaría D, Llinás-Caballero K, Corso-Ramirez JM, Restrepo CM, Dominguez-Dominguez CA, Fonseca-Mendoza DJ, Calderon-Ospina CA. Baracaldo-Santamaría D, et al. Among authors: restrepo cm. Int J Mol Sci. 2021 Jul 28;22(15):8090. doi: 10.3390/ijms22158090. Int J Mol Sci. 2021. PMID: 34360853 Free PMC article. Review.
Possible Genetic Determinants of Response to Phenytoin in a Group of Colombian Patients With Epilepsy.
Calderon-Ospina CA, Galvez JM, López-Cabra C, Morales N, Restrepo CM, Rodríguez J, Aristizábal-Gutiérrez FA, Velez-van-Meerbeke A, Laissue P, Fonseca-Mendoza DJ. Calderon-Ospina CA, et al. Among authors: restrepo cm. Front Pharmacol. 2020 May 7;11:555. doi: 10.3389/fphar.2020.00555. eCollection 2020. Front Pharmacol. 2020. PMID: 32457604 Free PMC article.
A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies.
Velandia-Piedrahita CA, Morel A, Fonseca-Mendoza DJ, Huertas-Quiñones VM, Castillo D, Bonilla JD, Hernandez-Toro CJ, Miranda-Fernández MC, Restrepo CM, Cabrera R. Velandia-Piedrahita CA, et al. Among authors: restrepo cm. Appl Clin Genet. 2020 Dec 17;13:233-240. doi: 10.2147/TACG.S282240. eCollection 2020. Appl Clin Genet. 2020. PMID: 33364810 Free PMC article.
Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy.
Triana-Fonseca P, Parada-Márquez JF, Silva-Aldana CT, Zambrano-Arenas D, Arias-Gomez LL, Morales-Fonseca N, Medina-Méndez E, Restrepo CM, Silgado-Guzmán DF, Fonseca-Mendoza DJ. Triana-Fonseca P, et al. Among authors: restrepo cm. Appl Clin Genet. 2021 Oct 1;14:399-408. doi: 10.2147/TACG.S317721. eCollection 2021. Appl Clin Genet. 2021. PMID: 34629887 Free PMC article.
Association Between the LZTFL1 rs11385942 Polymorphism and COVID-19 Severity in Colombian Population.
Angulo-Aguado M, Corredor-Orlandelli D, Carrillo-Martínez JC, Gonzalez-Cornejo M, Pineda-Mateus E, Rojas C, Triana-Fonseca P, Contreras Bravo NC, Morel A, Parra Abaunza K, Restrepo CM, Fonseca-Mendoza DJ, Ortega-Recalde O. Angulo-Aguado M, et al. Among authors: restrepo cm. Front Med (Lausanne). 2022 Jun 20;9:910098. doi: 10.3389/fmed.2022.910098. eCollection 2022. Front Med (Lausanne). 2022. PMID: 35795626 Free PMC article.
Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.
Silgado-Guzmán DF, Angulo-Aguado M, Morel A, Niño-Orrego MJ, Ruiz-Torres DA, Contreras Bravo NC, Restrepo CM, Ortega-Recalde O, Fonseca-Mendoza DJ. Silgado-Guzmán DF, et al. Among authors: restrepo cm. Front Pharmacol. 2022 Jun 30;13:931531. doi: 10.3389/fphar.2022.931531. eCollection 2022. Front Pharmacol. 2022. PMID: 35846994 Free PMC article.
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.
Jiménez KM, Fonseca-Mendoza DJ, Morel A, Ortega-Recalde O, Contreras Bravo NC, Velandia-Piedrahita CA, Steevens A, Caldas LD, Ribón JP, Sánchez M, Restrepo CM, Cabrera R. Jiménez KM, et al. Among authors: restrepo cm. Methods Protoc. 2022 Sep 21;5(5):73. doi: 10.3390/mps5050073. Methods Protoc. 2022. PMID: 36287045 Free PMC article.
Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations.
Parada-Márquez JF, Maldonado-Rodriguez ND, Triana-Fonseca P, Contreras-Bravo NC, Calderón-Ospina CA, Restrepo CM, Morel A, Ortega-Recalde OJ, Silgado-Guzmán DF, Angulo-Aguado M, Fonseca-Mendoza DJ. Parada-Márquez JF, et al. Among authors: restrepo cm. Front Pharmacol. 2023 Mar 20;14:1047854. doi: 10.3389/fphar.2023.1047854. eCollection 2023. Front Pharmacol. 2023. PMID: 37021041 Free PMC article.
Uveitis and Multiple Sclerosis: Potential Common Causal Mutations.
de-la-Torre A, Silva-Aldana CT, Muñoz-Ortiz J, Piñeros-Hernández LB, Otero O, Domínguez A, Faciolince LA, Arcos-Holzinger M, Mastronardi C, Contreras-Bravo NC, Restrepo CM, Arcos-Burgos M. de-la-Torre A, et al. Among authors: restrepo cm. Mol Neurobiol. 2019 Dec;56(12):8008-8017. doi: 10.1007/s12035-019-1630-2. Epub 2019 Jun 3. Mol Neurobiol. 2019. PMID: 31161422 Free PMC article.
Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings.
Aguillon D, Vasquez D, Madrigal L, Moreno S, Hernández D, Isaza-Ruget M, Lopez JJ, Landires I, Nuñez-Samudio V, Restrepo CM, Vidal OM, Vélez JI, Arcos-Holzinger M, Lopera F, Arcos-Burgos M. Aguillon D, et al. Among authors: restrepo cm. Mol Neurobiol. 2022 Jun;59(6):3845-3858. doi: 10.1007/s12035-022-02821-7. Epub 2022 Apr 14. Mol Neurobiol. 2022. PMID: 35420381
70 results