Associated Papers
Exploring Turkey's mosaic of novel variants and complex alleles in cystic fibrosis genetics.
Yıldız CA et al.
Pediatric Pulmonology, 2024
CFTR complex alleles and phenotypic variability in cystic fibrosis disease.
El-Seedy A et al.
Cellular and Molecular Biology (noisy-le-grand, France), 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
The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy.
Krasnova M et al.
International Journal of Molecular Sciences, 2023
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
Three Complex alleles associated with N1303K mutation and their molecular consequences.
Farhat R et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2022
CFTR gene mutation spectrum among 735 Iranian patients with cystic fibrosis: A comprehensive systematic review.
Alibakhshi R et al.
Pediatric Pulmonology, 2021
Association of the CFTR gene with asthma and airway mucus hypersecretion.
Crespo-Lessmann A et al.
Plos One, 2021
Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador.
Lascano-Vaca Y et al.
Bmc Pediatrics, 2020
Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.
Leung ML et al.
Scientific Data, 2020
Spectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review.
Al-Sadeq D et al.
Respirology (carlton, Vic.), 2019
Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system.
Ivády G et al.
Bmc Genomics, 2018
Complexity of phenotypes induced by p.Asn1303Lys-CFTR correlates with difficulty to rescue and activate this protein.
Farhat R et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2017
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Claustres M et al.
Human Mutation, 2017
Orkambi® and amplifier co-therapy improves function from a rare CFTR mutation in gene-edited cells and patient tissue.
Molinski SV et al.
Embo Molecular Medicine, 2017
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
A commentary on the novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies.
Lucarelli M
Journal of Human Genetics, 2016
Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.
Pagin A et al.
Plos One, 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
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
N1303K (c.3909C>G) mutation and splicing: implication of its c.[744-33GATT(6); 869+11C>T] complex allele in CFTR exon 7 aberrant splicing.
Farhat R et al.
Biomed Research International, 2015
Frequency of common CFTR gene mutations in Venezuelan patients with cystic fibrosis.
Sánchez K et al.
Investigacion Clinica, 2014
Symmetric snapback primers for scanning and genotyping of the cystic fibrosis transmembrane conductance regulator gene.
Zhou L et al.
Clinical Chemistry, 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
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 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
[Frequency of delta F508 mutation in Venezuelan patients with cystic fibrosis].
Morales-Machin A et al.
Investigacion Clinica, 2004
Haplotype analysis of the CFTR gene on normal and mutant CFTR genes.
Karimi N et al.
Mutation Research, 0
Cystic fibrosis gene mutations and polymorphisms in Saudi men with infertility.
AlMaghamsi T et al.
Annals of Saudi Medicine, 0