Associated Papers
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
A review of cystic fibrosis: Basic and clinical aspects.
Chen Q et al.
Animal Models and Experimental Medicine, 2021
Prognosis and treatment of 46 Chinese pediatric cystic fibrosis patients.
Chen Q et al.
Bmc Pediatrics, 2021
Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis.
Sanders M et al.
Human Genetics, 2021
Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China.
Yang B et al.
Frontiers in Genetics, 2021
A systematic review of the clinical and genetic characteristics of Chinese patients with cystic fibrosis.
Shi R et al.
Pediatric Pulmonology, 2020
Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.
Liu K et al.
Orphanet Journal of Rare Diseases, 2020
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2005
Multimutational analysis of eleven cystic fibrosis mutations common in the Mediterranean areas.
Farez-Vidal ME et al.
Clinical Chemistry, 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
Missense mutations in the cystic fibrosis gene in adult patients with asthma.
Lázaro C et al.
Human Mutation, 1999
Effect of cystic fibrosis-associated mutations in the fourth intracellular loop of cystic fibrosis transmembrane conductance regulator.
Cotten JF et al.
The Journal of Biological Chemistry, 1996
Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis.
Cremonesi L et al.
Human Genetics, 1996
A family with atypical cystic fibrosis: brother and sister with heterozygosity for both G542X and R117H.
Farez-Vidal ME et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0