Associated Papers
Clinical characteristics of pulmonary non-tuberculous mycobacterial disease with CFTR variants in the Japanese population.
Nagao G et al.
Bmj Open Respiratory Research, 2026
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study.
Markulić J et al.
Bmj Open, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.
Feng J et al.
Reproduction (cambridge, England), 2022
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.
Bozdogan ST et al.
Genes, 2021
The true panel of cystic fibrosis mutations in the Sicilian population.
Chamayou S et al.
Bmc Medical Genetics, 2020
Description of rare mutations and a novel variant in Brazilian patients with Cystic Fibrosis: a case series from a referral center in the Bahia State.
Mota LR et al.
Molecular Biology Reports, 2018
Cystic fibrosis: Identification and frequency of mutations in a mixed population from a low-income region in Northeastern Brazil.
Mota LR et al.
Pediatric Pulmonology, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Stabilization of a nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator yields insight into disease-causing mutations.
Vernon RM et al.
The Journal of Biological Chemistry, 2017
Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens.
Yang X et al.
Fertility and Sterility, 2015
Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience.
Girardet A et al.
Clinical Genetics, 2015
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Dorfman R et al.
Clinical Genetics, 2010
[The ΔF508 mutation in cystic fibrosis patients].
Arngrimsson R et al.
Laeknabladid, 1994