Associated Papers
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
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
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
Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single-center retrospective analysis.
Xu C et al.
Pediatric Pulmonology, 2023
Multicenter Surveillance of Cystic Fibrosis in Korean Children.
Kim HY et al.
Allergy, Asthma & Immunology Research, 2022
Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.
Shen Y et al.
Journal of Medical Genetics, 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
Case report of compound CFTR variants in Korean siblings with cystic fibrosis: importance of differentiating cystic fibrosis from inflammatory bowel disease.
Park H et al.
Translational Pediatrics, 2021
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens.
Li H et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2012
High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.
des Georges M et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2004
Cystic fibrosis at the Reunion Island (France): spectrum of mutations and genotype-phenotype for the Y122X mutation.
Duguépéroux I et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2004
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Chen JM et al.
Molecular Biology and Evolution, 2001
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M et al.
Human Mutation, 2000
Cystic fibrosis in the population of Reunion Island.
Hillaire D et al.
Annales De Genetique, 1991