Associated Papers
Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.
Burgel PR et al.
Eclinicalmedicine, 2025
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
40429633 (PubMed )
Supplement: ijms-26-04487-s001.zip › CFTR2_25September2024.xlsx › CFTR2_variants__genomic_info
Variability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry.
Mei-Zahav M et al.
Erj Open Research, 2025
39811546 (PubMed )
Supplement: 00587-2024.SUPPLEMENT.pdf
[Genetic revision of the Hungarian Cystic Fibrosis Registry].
Deák A et al.
Orvosi Hetilap, 2022
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics.
Soltysova A et al.
The Clinical Respiratory Journal, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_CFTR
Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum.
Ivády G et al.
Journal of Medical Biochemistry, 2015
CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.
Ziętkiewicz E et al.
Plos One, 2014
Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis.
Ivady G et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2011
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