Detalhe da pesquisa
1.
African-specific molecular taxonomy of prostate cancer.
Nature
; 609(7927): 552-559, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36045292
2.
Estimated birth prevalence of mucopolysaccharidoses in Brazil.
Am J Med Genet A
; 182(3): 469-483, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31926052
3.
Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy.
Clin Exp Ophthalmol
; 48(3): 334-342, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31925897
4.
Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases.
Genet Mol Biol
; 42(1 suppl 1): 261-285, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31132295
5.
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.
Genet Mol Biol
; 42(1 suppl 1): 197-206, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-30985853
6.
Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart.
Genet Mol Biol
; 42(1 suppl 1): 207-214, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-30985855
7.
Nasal Administration of Cationic Nanoemulsions as Nucleic Acids Delivery Systems Aiming at Mucopolysaccharidosis Type I Gene Therapy.
Pharm Res
; 35(11): 221, 2018 Sep 26.
Artigo
Inglês
| MEDLINE | ID: mdl-30259180
8.
Emerging drugs for the treatment of mucopolysaccharidoses.
Expert Opin Emerg Drugs
; 21(1): 9-26, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-26751109
9.
Genome-wide interrogation of structural variation reveals novel African-specific prostate cancer oncogenic drivers.
Genome Med
; 14(1): 100, 2022 08 31.
Artigo
Inglês
| MEDLINE | ID: mdl-36045381
10.
Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants.
Front Mol Biosci
; 8: 752797, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34746235
11.
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.
Orphanet J Rare Dis
; 15(1): 324, 2020 11 18.
Artigo
Inglês
| MEDLINE | ID: mdl-33208168
12.
Simple and efficient screening of patients with Fabry disease with high resolution melting.
Clin Biochem
; 53: 160-163, 2018 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-29305833
13.
In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system.
J Control Release
; 288: 23-33, 2018 10 28.
Artigo
Inglês
| MEDLINE | ID: mdl-30170069
14.
CRISPR-Cas9-mediated gene editing in human MPS I fibroblasts.
Gene
; 678: 33-37, 2018 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30081189
15.
Intra-articular nonviral gene therapy in mucopolysaccharidosis I mice.
Int J Pharm
; 548(1): 151-158, 2018 Sep 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29940298
16.
Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil.
Mol Genet Metab Rep
; 12: 92-97, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28721335
17.
Current molecular genetics strategies for the diagnosis of lysosomal storage disorders.
Expert Rev Mol Diagn
; 16(1): 113-23, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-26567866
18.
Deleterious effects of interruption followed by reintroduction of enzyme replacement therapy on a lysosomal storage disorder.
Transl Res
; 176: 29-37.e1, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27450046
19.
Fc Gamma Receptor IIA (CD32A) R131 Polymorphism as a Marker of Genetic Susceptibility to Sepsis.
Inflammation
; 39(2): 518-25, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26490967
20.
Effects of enzyme replacement therapy started late in a murine model of mucopolysaccharidosis type I.
PLoS One
; 10(2): e0117271, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-25646802