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
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
[Detection of pathogenic gene mutations in thirteen cases of congenital bilateral absence of vas deferens infertility patients].
Tang Y et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2024
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
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological 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
Genetic mutation analysis of 22 patients with congenital absence of vas deferens: a single-center study†.
Tan MQ et al.
Biology of Reproduction, 2022
Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China.
Yang B et al.
Frontiers in Genetics, 2021
The role of SLC9A3 in Taiwanese patients with congenital bilateral absence of vas deferens (CBAVD).
Chiang HS et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2019
Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles.
Yuan P et al.
Andrology, 2019
Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.
Li H et al.
Frontiers in Pediatrics, 2019
Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases.
Guo X et al.
Orphanet Journal of Rare Diseases, 2018
Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis.
Guan WJ et al.
Journal of Thoracic Disease, 2018
Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.
de Souza DAS et al.
Andrology, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Four case reports of Chinese cystic fibrosis patients and literature review.
Xu J et al.
Pediatric Pulmonology, 2017
Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.
Giefer MJ et al.
The Journal of Pediatrics, 2017
Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients.
Zheng B et al.
Pediatric Pulmonology, 2017
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.
Leung GK et al.
Molecular Genetics & Genomic Medicine, 2017
Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis.
Palermo JJ et al.
Pancreas, 2016
[Molecular diagnosis of two Chinese cystic fibrosis children and literature review].
Xu BP et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2016
p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.
Tian X et al.
Human Genome Variation, 2016
Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.
Singh M et al.
Respirology (carlton, Vic.), 2015
Cystic fibrosis transmembrane conductance regulator gene variants are associated with autoimmune pancreatitis and slow response to steroid treatment.
Chang MC et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2015
Characterization of gene mutations and phenotypes of cystic fibrosis in Chinese patients.
Liu Y et al.
Respirology (carlton, Vic.), 2015
Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis.
Chang MC et al.
Clinical Genetics, 2007
Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens.
Wu CC et al.
Human Reproduction (oxford, England), 2005
[A case report of cystic fibrosis and review of 16 cases of cystic fibrosis in Chinese patients].
Li N et al.
Zhonghua Jie He He Hu Xi Za Zhi = Zhonghua Jiehe He Huxi Zazhi = Chinese Journal of Tuberculosis and Respiratory Diseases, 2003
Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations.
Wong LJ et al.
American Journal of Medical Genetics. Part A, 2003
Detection of novel CFTR mutations in Taiwanese cystic fibrosis patients.
Alper OM et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2003
Novel cystic fibrosis mutation (2215insG) in two adolescent Taiwanese siblings.
Wu CL et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2000