Detalhe da pesquisa
1.
Distribution of pathogenic variants in the CFTR gene in a representative cohort of people with cystic fibrosis in the Kingdom of Bahrain.
Mol Genet Genomics
; 299(1): 52, 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38744777
2.
Precision medicine in cystic fibrosis: predictive role of forskolin-induced swelling assay.
Eur Respir J
; 63(4)2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38485147
3.
The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.
Front Med (Lausanne)
; 10: 1320054, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38170106
4.
Mutational Spectrum of the CFTR Gene in the Kazakhstan Population.
Indian Pediatr
; 59(5): 380-383, 2022 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35273129
5.
Response to elexacaftor/tezacaftor/ivacaftor in intestinal organoids derived from people with cystic fibrosis.
J Cyst Fibros
; 21(2): 243-245, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34348870
6.
Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry.
Orphanet J Rare Dis
; 16(1): 409, 2021 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34600583
7.
Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.
Mol Genet Genomic Med
; 7(8): e696, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31245908
8.
Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.
J Cyst Fibros
; 12(5): 532-7, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23276700