Detalhe da pesquisa
1.
Burkholderia cepacia complex in cystic fibrosis in a Brazilian reference center.
Med Microbiol Immunol
; 206(6): 447-461, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965239
2.
Hypertonic Saline as a Useful Tool for Sputum Induction and Pathogen Detection in Cystic Fibrosis.
Lung
; 195(4): 431-439, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28455785
3.
IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability.
Hum Genet
; 135(8): 881-94, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27209008
4.
Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study.
BMC Med Genet
; 15: 27, 2014 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-24593045
5.
Genetic interaction of GSH metabolic pathway genes in cystic fibrosis.
BMC Med Genet
; 14: 60, 2013 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23758905
6.
Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib.
Genet Mol Biol
; 36(4): 502-6, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24385852
7.
Replication Timing Aberration of KIF14 and MDM4 / PI3KC 2 ß Alleles and Aneuploidy as Markers of Chromosomal Instability and Poor Treatment Response in Ewing Family Tumor Patients.
Glob Med Genet
; 10(2): 54-62, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37091312
8.
Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p.Phe508del homozygous) and its association to Orkambi® (Lumacaftor and Ivacaftor) response in vitro.
Gene
; 871: 147428, 2023 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37068695
9.
Erratum to: IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability.
Hum Genet
; 136(3): 347-348, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28160095
10.
Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital.
Genes (Basel)
; 13(7)2022 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35886035
11.
Single nucleotide variants c.-13G â C (rs17429833) and c.108C â T (rs72466472) in the CLDN1 gene and increased risk for familial colorectal cancer.
Gene
; 768: 145304, 2021 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33186612
12.
Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the HMGA2 Gene.
Clin Cosmet Investig Dermatol
; 13: 1-10, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32021365
13.
Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.
Sci Rep
; 9(1): 6234, 2019 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30996306
14.
Chloride and sodium ion concentrations in saliva and sweat as a method to diagnose cystic fibrosis.
J Pediatr (Rio J)
; 95(4): 443-450, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-29782810
15.
Extent of rescue of F508del-CFTR function by VX-809 and VX-770 in human nasal epithelial cells correlates with SNP rs7512462 in SLC26A9 gene in F508del/F508del Cystic Fibrosis patients.
Biochim Biophys Acta Mol Basis Dis
; 1865(6): 1323-1331, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30716472
16.
Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil.
Sci Rep
; 9(1): 8693, 2019 06 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31213628
17.
Association of TGF-beta1, CD14, IL-4, IL-4R and ADAM33 gene polymorphisms with asthma severity in children and adolescents.
J Pediatr (Rio J)
; 84(3): 203-10, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18425216
18.
Cystic fibrosis transmembrane regulator haplotypes in households of patients with cystic fibrosis.
Gene
; 641: 137-143, 2018 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-29054758
19.
Pancreatic Insufficiency in Cystic Fibrosis: Influence of Inflammatory Response Genes.
Pancreas
; 47(1): 99-109, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29215541
20.
Association between single nucleotide polymorphisms in TLR4, TLR2, TLR9, VDR, NOS2 and CCL5 genes with acute viral bronchiolitis.
Gene
; 645: 7-17, 2018 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29253610