Associated Papers
Genetically engineered approaches to the treatment of cystic fibrosis.
Safrygina AA et al.
Biophysical Reviews, 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
Genetic Heterogeneity Correlated with Phenotypic Variability in 48 Patients with Cystic Fibrosis.
Donos MA et al.
Journal of Clinical Medicine, 2025
The Spectrum and Carrier Frequencies of Common Pathogenic Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Men from the General Population: The Role of Ethnicity.
Osadchuk L et al.
International Journal of Molecular Sciences, 2025
A Unique Combination of Heterozygous <italic>CFTR</italic> Gene Variants in a Person with Cystic Fibrosis and <italic>Mycobacterium abscessus</italic> Infection.
Lemson A et al.
Respiration; International Review of Thoracic Diseases, 2025
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 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
CFTR pathogenic variants spectrum in a cohort of Mexican patients with cystic fibrosis.
Martínez-Hernández A et al.
Heliyon, 2024
Anti-inflammatory effects of elexacaftor/tezacaftor/ivacaftor in adults with cystic fibrosis heterozygous for F508del.
Jarosz-Griffiths HH et al.
Plos One, 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
L138ins Variant of the CFTR Gene in Russian Infertile Men.
Chernykh V et al.
Genes, 2023
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.
Jian M et al.
Clinical and Translational Medicine, 2022
Mutational Spectrum of the CFTR Gene in the Kazakhstan Population.
Bulegenova M et al.
Indian Pediatrics, 2022
Diagnosis of cystic fibrosis in adulthood and eligibility for novel CFTR modulator therapy.
Farley H et al.
Postgraduate Medical Journal, 2022
Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.
Dai D et al.
Archives of Disease in Childhood, 2022
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 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
Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.
Petrova G et al.
Molecular Genetics & Genomic Medicine, 2019
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Thompson ML et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Newborn cystic fibrosis screening in southeastern Mexico: Birth prevalence and novel CFTR gene variants.
Ibarra-González I et al.
Journal of Medical Screening, 2018
Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics.
Soltysova A et al.
The Clinical Respiratory Journal, 2018
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.
Behar DM et al.
Molecular Genetics & Genomic Medicine, 2017
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
Girardet A et al.
European Journal of Human Genetics : Ejhg, 2016
The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2016