Associated Papers
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 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
CFTR gene mutation spectrum among 735 Iranian patients with cystic fibrosis: A comprehensive systematic review.
Alibakhshi R et al.
Pediatric Pulmonology, 2021
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul.
Atag E et al.
Pediatric Pulmonology, 2019
Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system.
Ivády G et al.
Bmc Genomics, 2018
The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies.
Diana A et al.
Journal of Human Genetics, 2016
Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies.
Gajbhiye R et al.
The Indian Journal of Medical Research, 2016
Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.
Bartoszewski R et al.
Cellular & Molecular Biology Letters, 2016
Association of CFTR gene mutation with bronchial asthma.
Maurya N et al.
The Indian Journal of Medical Research, 2012
Extensive molecular analysis of patients bearing CFTR-related disorders.
Amato F et al.
The Journal of Molecular Diagnostics : Jmd, 2012
Anthropological features of the CFTR gene: Its variability in an African population.
Maria Ciminelli B et al.
Annals of Human Biology, 2011
Independent contribution of common CFTR variants to chronic pancreatitis.
de Cid R et al.
Pancreas, 2010
Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners.
Gallati S et al.
Reproductive Biomedicine Online, 2009
Association of SPINK1 gene mutation and CFTR gene polymorphisms in patients with pancreas divisum presenting with idiopathic pancreatitis.
Garg PK et al.
Journal of Clinical Gastroenterology, 2009
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.
Dequeker E et al.
European Journal of Human Genetics : Ejhg, 2009
Cystic fibrosis transmembrane conductance regulator gene polymorphisms in patients with primary sclerosing cholangitis.
Henckaerts L et al.
Journal of Hepatology, 2009
The study of cystic fibrosis transmembrane conductance regulator gene mutations in a group of patients from Romania.
Frenţescu L et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008
[Standardized sweat chloride analysis for the diagnosis of cystic fibrosis in Korea].
Kim SJ et al.
The Korean Journal of Laboratory Medicine, 2008
Association of cystic fibrosis transmembrane conductance regulator (CFTR) mutation/variant/haplotype and tumor necrosis factor (TNF) promoter polymorphism in hyperlipidemic pancreatitis.
Chang YT et al.
Clinical Chemistry, 2008
Scanning the cystic fibrosis transmembrane conductance regulator gene using high-resolution DNA melting analysis.
Montgomery J et al.
Clinical Chemistry, 2007
Primary sclerosing cholangitis in childhood is associated with abnormalities in cystic fibrosis-mediated chloride channel function.
Pall H et al.
The Journal of Pediatrics, 2007
Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues.
Pieri Pde C et al.
Clinics (sao Paulo, Brazil), 2007
Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF.
Schneider M et al.
Clinical Genetics, 2007
Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis.
Tzetis M et al.
Clinical Genetics, 2007
Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens.
Grangeia A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007
A haplotype framework for cystic fibrosis mutations in Iran.
Elahi E et al.
The Journal of Molecular Diagnostics : Jmd, 2006
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.
Pompei F et al.
European Journal of Human Genetics : Ejhg, 2006
Molecular evaluation of CFTR sequence variants in male infertility of testicular origin.
Larriba S et al.
International Journal of Andrology, 2005
Complete gene scanning by temperature gradient capillary electrophoresis using the cystic fibrosis transmembrane conductance regulator gene as a model.
Chou LS et al.
The Journal of Molecular Diagnostics : Jmd, 2005
Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.
Ahn KM et al.
Journal of Korean Medical Science, 2005
Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis.
Niel F et al.
Journal of Medical Genetics, 2004
The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles.
Steiner B et al.
Human Mutation, 2004
Detection of CFTR mutations using temporal temperature gradient gel electrophoresis.
Wong LJ et al.
Electrophoresis, 2004
A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases.
Lee JH et al.
Human Molecular Genetics, 2003
CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel.
Zielenski J et al.
Methods in Molecular Medicine, 2002
Improved detection of CFTR mutations in Southern California Hispanic CF patients.
Wong LJ et al.
Human Mutation, 2001
CFTR gene mutations--including three novel nucleotide substitutions--and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease.
Tzetis M et al.
Human Genetics, 2001
Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study.
Bombieri C et al.
European Journal of Human Genetics : Ejhg, 2000
A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals.
Bombieri C et al.
Human Genetics, 2000
Screening practices for mutations in the CFTR gene ABCC7.
Girodon-Boulandet E 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
Two novel mutations in a cystic fibrosis patient of Chinese origin.
Wagner JA et al.
Human Genetics, 1999
A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): a founder mutation in the Palestinian Arabs. Mutation in brief no. 231. Online.
Lerer I et al.
Human Mutation, 1999
Missense mutations in the cystic fibrosis gene in adult patients with asthma.
Lázaro C et al.
Human Mutation, 1999
Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease.
Bombieri C et al.
Human Genetics, 1998
Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities.
Desgeorges M et al.
Human Genetics, 1997
Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test.
Romey MC et al.
Human Genetics, 1996