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
Beyond the 10%: Unraveling the genetic diversity in Turkish cystic fibrosis patients not eligible for CFTR modulators.
Yıldız CA et al.
Pediatric Pulmonology, 2024
Distribution of pathogenic variants in the CFTR gene in a representative cohort of people with cystic fibrosis in the Kingdom of Bahrain.
Majed OAK et al.
Molecular Genetics and Genomics : Mgg, 2024
Comparison of refugee patients with cystic fibrosis and their counterpart children from Turkey during the war.
Yılmaz Aİ et al.
European Journal of Pediatrics, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.
Kondratyeva E et al.
Frontiers in Genetics, 2024
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.
Makarova M et al.
International Journal of Molecular Sciences, 2023
Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade.
Hosseini Nami A et al.
Frontiers in Genetics, 2023
Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis
Hosseini Nami A et al.
Iranian Biomedical Journal, 2022
Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.
Muilwijk D et al.
The European Respiratory Journal, 2022
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
Sotnikova EA et al.
Journal of Personalized Medicine, 2022
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.
Banjar H et al.
International Journal of Pediatrics & Adolescent Medicine, 2022
CFTR gene mutation spectrum among 735 Iranian patients with cystic fibrosis: A comprehensive systematic review.
Alibakhshi R et al.
Pediatric Pulmonology, 2021
Forty-seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.
Zlotogora J
Clinical Genetics, 2021
Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.
Banjar H et al.
International Journal of Pediatrics & Adolescent Medicine, 2021
First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis.
AbdulWahab A et al.
Qatar Medical Journal, 2021
Serum-Based Proteomics Profiling in Adult Patients with Cystic Fibrosis.
Benabdelkamel H et al.
International Journal of Molecular Sciences, 2020
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
Kiseleva AV et al.
Journal of Personalized Medicine, 2020
Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.
Petrova NV et al.
Genes, 2020
Sequencing as a first-line methodology for cystic fibrosis carrier screening.
Beauchamp KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.
Petrova NV et al.
Clinical Genetics, 2019
Spectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review.
Al-Sadeq D et al.
Respirology (carlton, Vic.), 2019
Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.
Ivanov M et al.
Bmc Medical Genomics, 2018
Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.
Behar DM et al.
Molecular Genetics & Genomic Medicine, 2017
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.
Trujillano D et al.
Molecular Genetics & Genomic Medicine, 2015
Arab gene geography: From population diversities to personalized medical genomics.
Tadmouri GO et al.
Global Cardiology Science & Practice, 2014
The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.
Farkas DH et al.
The Journal of Molecular Diagnostics : Jmd, 2010
Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.
Banjar HH et al.
Annals of Saudi Medicine, 0