Detalhe da pesquisa
1.
Development of the Cystic Fibrosis Questionnaire-Revised-8 Dimensions: Estimating Utilities From the Cystic Fibrosis Questionnaire-Revised.
Value Health
; 26(4): 567-578, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36509366
2.
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.
Am J Hum Genet
; 102(6): 1062-1077, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29805046
3.
Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.
PLoS Genet
; 14(11): e1007723, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30444886
4.
Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial.
Lancet
; 394(10212): 1940-1948, 2019 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31679946
5.
Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis.
Am J Respir Crit Care Med
; 199(9): 1116-1126, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30888834
6.
Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.
Hum Mol Genet
; 24(7): 1908-17, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25489051
7.
Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses.
J Pediatr
; 181S: S27-S32.e1, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28129809
8.
Diagnosis of Cystic Fibrosis in Nonscreened Populations.
J Pediatr
; 181S: S52-S57.e2, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28129813
9.
Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation.
J Pediatr
; 181S: S4-S15.e1, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28129811
10.
Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis.
Am J Respir Crit Care Med
; 194(11): 1375-1382, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27258095
11.
A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction.
Am J Physiol Lung Cell Mol Physiol
; 311(6): L1170-L1182, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27793802
12.
Transparency and diversity in cystic fibrosis research - Authors' reply.
Lancet
; 396(10251): 602, 2020 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32861305
13.
Clinical Phenotypes and Genotypic Spectrum of Cystic Fibrosis in Chinese Children.
J Pediatr
; 171: 269-76.e1, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26826884
14.
Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.
Hum Mutat
; 35(10): 1249-59, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25066652
15.
Interpretation of genetic variants.
Thorax
; 69(3): 295-7, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24343785
16.
Psychometric performance of the CFQ-R-8D compared to the EQ-5D-3L and SF-6D in people with cystic fibrosis.
J Patient Rep Outcomes
; 8(1): 24, 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38416239
17.
Safety and efficacy of vanzacaftor-tezacaftor-deutivacaftor in adults with cystic fibrosis: randomised, double-blind, controlled, phase 2 trials.
Lancet Respir Med
; 11(6): 550-562, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36842446
18.
Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis.
Hum Mutat
; 33(8): 1267-74, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22573477
19.
Bias in CFTR screening panels.
Genet Med
; 18(2): 209, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26513347
20.
Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.
Respir Res
; 11: 140, 2010 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20932301