Detalhe da pesquisa
1.
Transcriptomic and histological analysis of exposed facial skin areas wrinkled or not and unexposed skin.
Mol Biol Rep
; 49(3): 1669-1678, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34851478
2.
Fabry disease: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations.
Metab Brain Dis
; 36(2): 265-272, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33156427
3.
New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema.
Biol Chem
; 397(4): 337-44, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26812872
4.
An observational human study investigating the effect of anabolic androgenic steroid use on the transcriptome of skeletal muscle and whole blood using RNA-Seq.
BMC Med Genomics
; 16(1): 94, 2023 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37138349
5.
Integrating Whole Blood Transcriptomic Collection Procedures Into the Current Anti-Doping Testing System, Including Long-Term Storage and Re-Testing of Anti-Doping Samples.
Front Mol Biosci
; 8: 728273, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34765642
6.
Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis.
Ophthalmic Genet
; 42(5): 553-560, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34157943
7.
Role of the second disulfide bridge (Cys(18)-Cys(274)) in stabilizing the inactive AT1 receptor.
Biol Chem
; 391(10): 1189-95, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20707602
8.
Non-radioactive binding assay for bradykinin and angiotensin receptors.
Methods Cell Biol
; 149: 77-85, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30616828
9.
Genetic Variation of Kallikrein-Kinin System and Related Genes in Patients With Hereditary Angioedema.
Front Med (Lausanne)
; 6: 28, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30847342
10.
Relative frequency of inherited retinal dystrophies in Brazil.
Sci Rep
; 8(1): 15939, 2018 10 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30374144
11.
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.
Sci Rep
; 7(1): 8654, 2017 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28819299
12.
Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation.
Invest Ophthalmol Vis Sci
; 58(13): 5723-5730, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29114839