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Diagnostic yield of chromosomal microarray in the largest Latino clinical cohort.
Carrillo YD, Rueda-Gaitán P, Gualdrón O, Estrada-Serrato C, Castro-Cuesta TA, Londoño O, Rodríguez-Salazar L, Isaza-Ruget M, Arcos-Burgos M, López Rivera JJ. Carrillo YD, et al. Among authors: arcos burgos m. Am J Med Genet A. 2024 Feb;194(2):218-225. doi: 10.1002/ajmg.a.63427. Epub 2023 Oct 5. Am J Med Genet A. 2024. PMID: 37795898
Targeting Neuroplasticity, Cardiovascular, and Cognitive-Associated Genomic Variants in Familial Alzheimer's Disease.
Vélez JI, Lopera F, Creagh PK, Piñeros LB, Das D, Cervantes-Henríquez ML, Acosta-López JE, Isaza-Ruget MA, Espinosa LG, Easteal S, Quintero GA, Silva CT, Mastronardi CA, Arcos-Burgos M. Vélez JI, et al. Mol Neurobiol. 2019 May;56(5):3235-3243. doi: 10.1007/s12035-018-1298-z. Epub 2018 Aug 15. Mol Neurobiol. 2019. PMID: 30112632 Free PMC article.
Generation of one iPSC line (IMEDEAi006-A) from an early-onset familial Alzheimer's Disease (fAD) patient carrying the E280A mutation in the PSEN1 gene.
Vallejo-Diez S, Fleischer A, Martín-Fernández JM, Sánchez-Gilabert A, Castresana M, Aguillón D, Villegas A, Mastronardi CA, Espinosa LG, Arcos-Burgos M, Del Pozo Á, Herrán E, Gainza E, Isaza-Ruget M, Lopera F, Bachiller D. Vallejo-Diez S, et al. Stem Cell Res. 2019 May;37:101440. doi: 10.1016/j.scr.2019.101440. Epub 2019 Apr 15. Stem Cell Res. 2019. PMID: 31026686 Free 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. Mol Neurobiol. 2022 Jun;59(6):3845-3858. doi: 10.1007/s12035-022-02821-7. Epub 2022 Apr 14. Mol Neurobiol. 2022. PMID: 35420381
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.
Aguillon D, Vasquez D, Madrigal L, Moreno S, Hernández D, Isaza-Ruget M, Lopez JJ, Landires I, Nunez-Samudio V, Restrepo CM, Vidal OM, Vélez JI, Arcos-Holzinger M, Lopera F, Arcos-Burgos M. Aguillon D, et al. Mol Neurobiol. 2022 Jun;59(6):3859. doi: 10.1007/s12035-022-02874-8. Mol Neurobiol. 2022. PMID: 35585447 No abstract available.
Structural Protein Effects Underpinning Cognitive Developmental Delay of the PURA p.Phe233del Mutation Modelled by Artificial Intelligence and the Hybrid Quantum Mechanics-Molecular Mechanics Framework.
López-Rivera JJ, Rodríguez-Salazar L, Soto-Ospina A, Estrada-Serrato C, Serrano D, Chaparro-Solano HM, Londoño O, Rueda PA, Ardila G, Villegas-Lanau A, Godoy-Corredor M, Cuartas M, Vélez JI, Vidal OM, Isaza-Ruget MA, Arcos-Burgos M. López-Rivera JJ, et al. Brain Sci. 2022 Jun 30;12(7):871. doi: 10.3390/brainsci12070871. Brain Sci. 2022. PMID: 35884678 Free PMC article.
Mutations modifying sporadic Alzheimer's disease age of onset.
Vélez JI, Lopera F, Patel HR, Johar AS, Cai Y, Rivera D, Tobón C, Villegas A, Sepulveda-Falla D, Lehmann SG, Easteal S, Mastronardi CA, Arcos-Burgos M. Vélez JI, et al. Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1116-1130. doi: 10.1002/ajmg.b.32493. Epub 2016 Aug 30. Am J Med Genet B Neuropsychiatr Genet. 2016. PMID: 27573710
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. 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.
160 results