Associated Papers
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Increased prevalence of CFTR variants and susceptibility to CRS: A real-world study based on Chinese children.
Han Y et al.
Heliyon, 2024
One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study.
Nunziato M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants: A retrospective study on the western and southern regions of Saudi Arabia.
Almaghamsi T et al.
Saudi Medical Journal, 2023
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
The burden of cystic fibrosis in North Africa.
El Makhzen N et al.
Frontiers in Genetics, 2023
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A et al.
The European Respiratory Journal, 2022
Occurrence of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Patients with Allergic Bronchopulmonary Aspergillosis Complicating Asthma.
Kanaujia R et al.
Mycopathologia, 2022
Three Complex alleles associated with N1303K mutation and their molecular consequences.
Farhat R et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2022
High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients.
Petrova NV et al.
Bmc Genomics, 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
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Association of the CFTR gene with asthma and airway mucus hypersecretion.
Crespo-Lessmann A et al.
Plos One, 2021
The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical Presentation.
Bampi GB et al.
Life (basel, Switzerland), 2020
Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.
Leung ML et al.
Scientific Data, 2020
Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul.
Atag E et al.
Pediatric Pulmonology, 2019
ATP-Binding Cassette Transporters in the Clinical Implementation of Pharmacogenetics.
López-Fernández LA
Journal of Personalized Medicine, 2018
Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.
Baatallah N et al.
Human Mutation, 2018
Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system.
Ivády G et al.
Bmc Genomics, 2018
Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations in North Egyptian population: implications for the genetic diagnosis in Egypt.
El-Seedy A et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2016
Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants.
Sánchez K et al.
The Application of Clinical Genetics, 2016
Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.
Bartoszewski R et al.
Cellular & Molecular Biology Letters, 2016
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.
Trujillano D et al.
Molecular Genetics & Genomic Medicine, 2015
Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis.
Nakano E et al.
Digestive Diseases and Sciences, 2015
Relationship between CFTR and CTRC variants and the clinical phenotype in late-onset cystic fibrosis disease with chronic pancreatitis.
Tomaiuolo AC et al.
The Journal of Molecular Diagnostics : Jmd, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Frequency of common CFTR gene mutations in Venezuelan patients with cystic fibrosis.
Sánchez K et al.
Investigacion Clinica, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Symmetric snapback primers for scanning and genotyping of the cystic fibrosis transmembrane conductance regulator gene.
Zhou L et al.
Clinical Chemistry, 2013
Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis.
Jang MA et al.
Journal of Human Genetics, 2013
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
Rosendahl J et al.
Gut, 2013
Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period.
Ridge PG et al.
Journal of Clinical Bioinformatics, 2013
[Influence of a genetic component on the propensity of dust-exposed workers to visceropathies (on the pattern of detecting polymorphisms in the transmembrane conductance regulatory protein CFTR gene)].
Peskov SA et al.
Meditsina Truda I Promyshlennaia Ekologiia, 2013
Molecular screening of the CFTR gene in Mexican patients with congenital absence of the vas deferens.
Saldaña-Alvarez Y et al.
Genetic Testing and Molecular Biomarkers, 2012
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
Steiner B et al.
Human Mutation, 2011
[Frequency of delta F508 mutation in Venezuelan patients with cystic fibrosis].
Morales-Machin A et al.
Investigacion Clinica, 2004
CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations.
Karimi N et al.
Journal of Reproduction & Infertility, 0
Cystic fibrosis gene mutations and polymorphisms in Saudi men with infertility.
AlMaghamsi T et al.
Annals of Saudi Medicine, 0