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
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
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: White Colored Stool: An Early Sign of Cystic Fibrosis in Infants.
Guo J et al.
Frontiers in Pediatrics, 2021
Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China.
Yang B et al.
Frontiers in Genetics, 2021
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
Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.
Li H et al.
Frontiers in Pediatrics, 2019
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.
Wang NL et al.
Plos One, 2016
PGD for cystic fibrosis patients and couples at risk of an additional genetic disorder combined with 24-chromosome aneuploidy testing.
Rechitsky S et al.
Reproductive Biomedicine Online, 2013
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.
Masson E et al.
Plos One, 2013
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
Reduced CFTR function and the pathobiology of idiopathic pancreatitis.
Cohn JA
Journal of Clinical Gastroenterology, 2005
The role of cystic fibrosis gene mutations in determining susceptibility to chronic pancreatitis.
Cohn JA et al.
Gastroenterology Clinics of North America, 2004
Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis.
Audrézet MP et al.
European Journal of Human Genetics : Ejhg, 2002