Detalhe da pesquisa
1.
Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology.
Hum Mutat
; 40(1): 25-30, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30304577
2.
Structural and functional responses of invertebrate communities to climate change and flow regulation in alpine catchments.
Glob Chang Biol
; 25(5): 1612-1628, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30698905
3.
Linking genotype to trophoblast phenotype in preeclampsia and HELLP syndrome associated with STOX1 genetic variants.
iScience
; 27(3): 109260, 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38439971
4.
Next-generation sequencing of host genetics risk factors associated with COVID-19 severity and long-COVID in Colombian population.
Sci Rep
; 14(1): 8497, 2024 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605121
5.
Functional Analysis of BRCA1 3'UTR Variants Predisposing to Breast Cancer.
Appl Clin Genet
; 17: 57-62, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38803352
6.
Methylation of human papillomavirus Type 16 CpG sites at E2-binding site 1 (E2BS1), E2BS2, and the Sp1-binding site in cervical cancer samples as determined by high-resolution melting analysis-PCR.
J Clin Microbiol
; 51(10): 3207-15, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23863566
7.
A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency.
Clin Endocrinol (Oxf)
; 89(2): 245-246, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29808484
8.
Functional analysis of CTLA4 promoter variant and its possible implication in colorectal cancer immunotherapy.
Front Med (Lausanne)
; 10: 1160368, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37601778
9.
Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations.
Front Pharmacol
; 14: 1047854, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37021041
10.
Preeclampsia, Natural History, Genes, and miRNAs Associated with the Syndrome.
J Pregnancy
; 2022: 3851225, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35198246
11.
Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.
Front Pharmacol
; 13: 931531, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35846994
12.
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.
Methods Protoc
; 5(5)2022 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36287045
13.
Association Between the LZTFL1 rs11385942 Polymorphism and COVID-19 Severity in Colombian Population.
Front Med (Lausanne)
; 9: 910098, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35795626
14.
Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype.
Pharmgenomics Pers Med
; 14: 287-299, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33688237
15.
A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies.
Appl Clin Genet
; 13: 233-240, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33364810
16.
DNA demethylation agent 5azadC downregulates HPV16 E6 expression in cervical cancer cell lines independently of TBX2 expression.
Oncol Lett
; 19(1): 1074-1081, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31897221
17.
Identifying new potential genetic biomarkers for HELLP syndrome using massive parallel sequencing.
Pregnancy Hypertens
; 22: 181-190, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33059327
18.
5azadC treatment upregulates miR-375 level and represses HPV16 E6 expression.
Oncotarget
; 8(28): 46163-46176, 2017 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28521287
19.
Long-term storage and safe retrieval of human papillomavirus DNA using FTA elute cards.
J Virol Methods
; 229: 60-5, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26721377