Associated Papers
Profile of cystic fibrosis transmembrane conductance regulator (CFTR) gene variants across India and their variability in different geographic regions.
Chowdhury MR et al.
Gene, 2026
Beyond the Exome: The Role of Noncoding and Regulatory Variants in Monogenic Diseases.
Moustakli E et al.
Current Issues in Molecular Biology, 2025
Beyond Carrier Status: CFTR Heterozygosity as an Overlooked Clinical Risk Factor for Pancreatitis.
Richter LD et al.
Clinical Genetics, 2025
Global prevalence of CFTR variants with respect to their responsiveness to elexacaftor-tezacaftor-ivacaftor.
Burgel PR et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025
Genetically engineered approaches to the treatment of cystic fibrosis.
Safrygina AA et al.
Biophysical Reviews, 2025
CFTR Variant Frequencies and Newborn Screening Panel Performance in the Diverse CF Population Receiving Care in the State of Georgia.
Barr E et al.
International Journal of Neonatal Screening, 2025
CRISPR for cystic fibrosis: Advances and insights from a systematic review.
Nicosia L et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
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 spectrum of CFTR dysfunction in patients with nontuberculous mycobacterial pulmonary disease.
Lemson A et al.
Respiratory Investigation, 2025
Mutation characterisation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in people with cystic fibrosis in Northern Ireland.
Blevings PJ et al.
The Ulster Medical Journal, 2025
It's Never Too Late: A Case of Cystic Fibrosis Diagnosed at the Age of 58.
Di Giorgi F et al.
Cureus, 2025
Compound Heterozygous Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation in An Adolescent Girl with Normal Sweat Chloride.
Rajesh B et al.
Indian Journal of Pediatrics, 2025
Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience.
Oud MS et al.
Andrology, 2025
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
Treatment effects of elexacaftor/tezacaftor/ivacaftor on people with cystic fibrosis heterozygous for 3849+10kbC->T and a class I variant.
Heching M et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025
Clinical and genetic profiles of paediatric patients with cystic fibrosis from Western India.
Chandane P et al.
Lung India : Official Organ of Indian Chest Society, 2025
Unraveling the Mechanism of Action, Binding Sites, and Therapeutic Advances of CFTR Modulators: A Narrative Review.
Baroni D
Current Issues in Molecular Biology, 2025
Variability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry.
Mei-Zahav M et al.
Erj Open Research, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Population Characteristics of the Spectrum and Frequencies of CFTR Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia).
Ayupova G et al.
Genes, 2024
Genetic and clinical factors influencing CF-associated liver disease: the impact of SERPINA1 variants and CFTR genotypes in Romanian pediatric cystic fibrosis patients.
Moiceanu ES et al.
Medicine and Pharmacy Reports, 2024
Challenges of Preimplantation Genetic Counselling in the Context of Cystic Fibrosis and Other CFTR-Related Disorders: A Monocentric Experience in a Cohort of 92 Couples.
Sorrentino U et al.
Genes, 2024
Exploring the diversity of CFTR gene mutations in cystic fibrosis individuals of South Asia.
Rafique H et al.
The Journal of Asthma : Official Journal of the Association for the Care of Asthma, 2024
Genetic analysis and functional study of novel CFTR variants in Chinese children with cystic fibrosis.
Sun J et al.
Gene, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
Functional Consequences of CFTR Interactions in Cystic Fibrosis.
Ramananda Y et al.
International Journal of Molecular Sciences, 2024
Genetic surgery for a cystic fibrosis-causing splicing mutation.
Bulcaen M et al.
Molecular Therapy. Methods & Clinical Development, 2024
A novel high-resolution melting analysis strategy for detecting cystic fibrosis-causing variants.
Díez Rodríguez GR et al.
Laboratory Medicine, 2024
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.
Harkness JR et al.
European Journal of Medical Genetics, 2024
Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.
Kondratyeva E et al.
Frontiers in Genetics, 2024
Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples.
Glotov AS et al.
Genes, 2023
Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.
Mention K et al.
Human Molecular Genetics, 2023
Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome.
Chernykh V 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
Branchpoints as potential targets of exon-skipping therapies for genetic disorders.
Ohara H et al.
Molecular Therapy. Nucleic Acids, 2023
False negatives in the newborn screening for cystic fibrosis in Western Andalusia: Results from a 10-year experience.
Escudero-Ávila R et al.
Pediatric Pulmonology, 2023
Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort.
De Paolis E et al.
Genes, 2023
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Deignan JL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Reproductive Counseling and Care in Cystic Fibrosis: A Multidisciplinary Approach for a New Therapeutic Era.
McGlynn J et al.
Life (basel, Switzerland), 2023
L138ins Variant of the CFTR Gene in Russian Infertile Men.
Chernykh V et al.
Genes, 2023
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.
Makarova M et al.
International Journal of Molecular Sciences, 2023
Gradual increase in sweat chloride concentration is associated with a higher risk of CRMS/CFSPID to CF reclassification.
Salinas DB et al.
Pediatric Pulmonology, 2023
Cystic fibrosis and primary ciliary dyskinesia: Similarities and differences.
Pereira R et al.
Respiratory Medicine, 2023
Antisense Oligonucleotide Therapeutics for Cystic Fibrosis: Recent Developments and Perspectives.
Kim YJ et al.
Molecules and Cells, 2023