Detalhe da pesquisa
1.
L1077P CFTR pathogenic variant function rescue by Elexacaftor-Tezacaftor-Ivacaftor in cystic fibrosis patient-derived air-liquid interface (ALI) cultures and organoids: in vitro guided personalized therapy of non-F508del patients.
Respir Res
; 24(1): 217, 2023 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37674160
2.
Sperm DNA Fragmentation and Sperm-Borne miRNAs: Molecular Biomarkers of Embryo Development?
Int J Mol Sci
; 24(2)2023 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36674527
3.
Theratyping cystic fibrosis in vitro in ALI culture and organoid models generated from patient-derived nasal epithelial conditionally reprogrammed stem cells.
Eur Respir J
; 58(6)2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34413153
4.
DNA Methylation Patterns Correlate with the Expression of SCNN1A, SCNN1B, and SCNN1G (Epithelial Sodium Channel, ENaC) Genes.
Int J Mol Sci
; 22(7)2021 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33916525
5.
Correction to: L1077P CFTR pathogenic variant function rescue by Elexacaftor-Tezacaftor-Ivacaftor in cystic fbrosis patient-derived air-liquid interface (ALI) cultures and organoids: in vitro guided personalized therapy of non-F508del patients.
Respir Res
; 24(1): 228, 2023 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37742000
6.
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.
Mol Med
; 21: 257-75, 2015 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25910067
7.
Alcohol dependence and serotonin transporter functional polymorphisms 5-HTTLPR and rs25531 in an Italian population.
Alcohol Alcohol
; 50(3): 259-65, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25770138
8.
Characteristic Hallmarks of Aging and the Impact on Carcinogenesis.
Curr Cancer Drug Targets
; 23(2): 87-102, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-35975845
9.
Quantitative Evaluation of CFTR Gene Expression: A Comparison between Relative Quantification by Real-Time PCR and Absolute Quantification by Droplet Digital PCR.
Genes (Basel)
; 14(9)2023 09 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761921
10.
A template for mutational data analysis of the CFTR gene.
Clin Chem Lab Med
; 49(9): 1447-51, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21627495
11.
Quantitative Evaluation of CFTR Pre-mRNA Splicing Dependent on the (TG)mTn Poly-Variant Tract.
Diagnostics (Basel)
; 11(2)2021 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33504063
12.
A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation.
Genet Med
; 12(9): 548-55, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20706124
13.
CRMS/CFSPID Subjects Carrying D1152H CFTR Variant: Can the Second Variant Be a Predictor of Disease Development?
Diagnostics (Basel)
; 10(12)2020 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33322690
14.
A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology.
J Mol Diagn
; 19(5): 788-800, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28736296