Associated Papers
Analysis of the Genome Aggregation Database (gnomAD) reveals a global burden of cystic fibrosis and the need for improved diagnosis and care.
Bar L et al.
Ebiomedicine, 2026
Cystic fibrosis complicated by allergic bronchopulmonary aspergillosis in a Chinese adolescent: a case report and literature review.
Dang Y et al.
Ame Case Reports, 2026
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
Efficacy of elexacaftor/tezacaftor/ivacaftor in non-cystic fibrosis bronchiectasis patients with a single pathogenic CFTR mutation: a retrospective cohort analysis.
Papadakis L et al.
Erj Open Research, 2025
Targeting the Aryl Hydrocarbon Receptor: The Potential of Indole Compounds in the Treatment of Cystic Fibrosis.
Hou S et al.
International Journal of Molecular Sciences, 2025
Clinical and genetic characteristics of diseases caused by CFTR gene mutations in 15 Chinese children: a retrospective analysis.
Bu H et al.
Bmc Pediatrics, 2025
Cystic fibrosis: influence of CFTR variants on epididymal sperm recovery and ICSI results.
Boursier A et al.
Reproductive Biomedicine Online, 2025
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
General Trends in the Calnexin-Dependent Expression and Pharmacological Rescue of Clinical CFTR Variants.
Tedman A et al.
Biorxiv : the Preprint Server for Biology, 2025
Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.
Lu Y et al.
Asian Journal of Andrology, 2025
An analysis of LRP5 gene frequencies in infants with familial exudative vitreoretinopathy in Chongqing and Urumqi.
Cen C et al.
Medicine, 2025
The Spectrum and Carrier Frequencies of Common Pathogenic Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Men from the General Population: The Role of Ethnicity.
Osadchuk L et al.
International Journal of Molecular Sciences, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 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
Whole exome sequencing enhances diagnosis of hereditary bronchiectasis.
Zhou W et al.
Orphanet Journal of Rare Diseases, 2025
Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.
Prizment A et al.
Human Molecular Genetics, 2025
The CFTR K464N variant in fetuses potential increases premature birth risk in Chinese families.
Li J et al.
Human Genomics, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Progression and mortality of patients with cystic fibrosis in China.
Zhou W et al.
Orphanet Journal of Rare Diseases, 2025
An electronic medical record retrieval system can be used to identify missed diagnosis in patients with primary ciliary dyskinesia.
Zhou W et al.
Journal of Internal Medicine, 2025
Phenotypic impact of CFTR mutations on male reproductive tract agenesis in a Chinese cohort with congenital absence of the vas deferens.
Li J et al.
Journal of Assisted Reproduction and Genetics, 2025
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
Cystic fibrosis caused by homozygous CFTR gene mutation leading to pulmonary involvement: a case report.
Duan JP et al.
American Journal of Translational Research, 2025
A systematic review and evidence assessment of monogenic gene-disease relationships in human male infertility.
Zhao Q et al.
Frontiers in Endocrinology, 2025
Genetic diagnosis and outcomes of intracytoplasmic sperm injection in South Chinese patients with congenital bilateral aplasia of the vas deferens.
Hu H et al.
Basic and Clinical Andrology, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Genetic testing in pediatric kidney transplant recipients to promote informed choice and improve individualized monitoring.
Feng Y et al.
Orphanet Journal of Rare Diseases, 2024
Multisite Verification of a Targeted CFTR Polymerase Chain Reaction/Capillary Electrophoresis Assay That Evaluates Pathogenic Variants Across Diverse Ethnic and Ancestral Groups.
Hall B et al.
Archives of Pathology & Laboratory Medicine, 2024
Major Causes of Conflicting Interpretations of Variant Pathogenicity in Rare Disease: A Systematic Analysis.
Lazareva TE et al.
Journal of Personalized Medicine, 2024
Compound heterozygous CFTR variants (Q1352H and 5T; TG13) in a Chinese patient with cystic fibrosis.
Guo R et al.
Diagnostic Pathology, 2024
Genetic Manifestations and Phenotype Spectrum in Infants With Feeding Difficulty.
Han M et al.
Molecular Genetics & Genomic Medicine, 2024
Clinical characteristics and genetic mutations of 10 Chinese children with cystic fibrosis or cystic frbrosis transmembrane conductance regulator-related disorders.
Tan S et al.
Chinese Medical Journal, 2024
Genetic analysis and functional study of novel CFTR variants in Chinese children with cystic fibrosis.
Sun J et al.
Gene, 2024
[Cystic fibrosis primarily presenting with pseudo-Bartter syndrome: a report of three cases and literature review].
Zhang JY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2024
Increased prevalence of CFTR variants and susceptibility to CRS: A real-world study based on Chinese children.
Han Y et al.
Heliyon, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024