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
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
Complexity of phenotypes induced by p.Asn1303Lys-CFTR correlates with difficulty to rescue and activate this protein.
Farhat R et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.
Havasi V et al.
Fertility and Sterility, 2010
CFTR mutations in the Algerian population.
Loumi O et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008
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
DHPLC screening of cystic fibrosis gene mutations.
Ravnik-Glavac M et al.
Human Mutation, 2002
Mutations that change the position of the putative gamma-phosphate linker in the nucleotide binding domains of CFTR alter channel gating.
Berger AL et al.
The Journal of Biological Chemistry, 2002
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
Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease.
Liechti-Gallati S et al.
European Journal of Human Genetics : Ejhg, 1999
Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients.
Hubert D et al.
The European Respiratory Journal, 1996
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.
Ravnik-Glavac M et al.
Human Molecular Genetics, 1994
Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy.
Ravnik-Glavac M et al.
Human Mutation, 1994
Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.
Tsui LC
Human Mutation, 1992
Screening for cystic fibrosis mutations in southern France: identification of a frameshift mutation and two missense variations.
Claustres M et al.
Human Mutation, 1992