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
An overview of CFTR mutation profiles and assisted reproductive technology outcomes in Chinese patients with congenital obstructive azoospermia.
Wang M et al.
Journal of Assisted Reproduction and Genetics, 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
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
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
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
Cystic fibrosis transmembrane conductance regulator-related male infertility: Relevance of genetic testing & counselling in Indian population.
Gaikwad A et al.
The Indian Journal of Medical Research, 2020
Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens.
Wang H et al.
Andrology, 2020
Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system.
Ivády G et al.
Bmc Genomics, 2018
Salt depletion syndrome as the initial presentation of cystic fibrosis in a toddler with the rare p.Ala309Gly (A309G) CFTR variant.
Salvatore D et al.
Clinical Genetics, 2016
A frequent large rearrangement in the CFTR gene in cystic fibrosis patients from Reunion Island.
Nectoux J et al.
Genetic Testing, 2006
Spectrum of CFTR mutations on Réunion Island: impact on neonatal screening.
Bienvenu T et al.
Human Biology, 2005
Molecular analysis of 23 exons of the CFTR gene in Brazilian patients leads to the finding of rare cystic fibrosis mutations.
Cabello GM et al.
Human Biology, 2005
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
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
Bobadilla JL et al.
Human Mutation, 2002
Detection of more than 91% cystic fibrosis mutations in a sample of the population from Reunion Island and identification of two novel mutations (A309G, S1255L) and one novel polymorphism (L49L)
Cartault F et al.
Clinical Genetics, 1998
Cystic fibrosis in the population of Reunion Island.
Hillaire D et al.
Annales De Genetique, 1991