Associated Papers
Efficacy of elexacaftor/tezacaftor/ivacaftor in non-cystic fibrosis bronchiectasis patients with a single pathogenic CFTR mutation: a retrospective cohort analysis.
Papadakis L et al.
Erj Open Research, 2025
Evaluating Georgia's Cystic Fibrosis Newborn Screening Algorithm to Inform Improvement Recommendations.
Truitt B et al.
International Journal of Neonatal Screening, 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
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
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study.
Markulić J et al.
Bmj Open, 2025
Multisite Verification of a Targeted CFTR Polymerase Chain Reaction/Capillary Electrophoresis Assay That Evaluates Pathogenic Variants Across Diverse Ethnic and Ancestral Groups.
Hall B et al.
Archives of Pathology & Laboratory Medicine, 2024
Diagnostic challenges in CFTR-related metabolic syndrome: Where the guidelines fall short.
Kallam EF et al.
Paediatric Respiratory Reviews, 2024
Refinement of newborn screening for cystic fibrosis with next generation sequencing.
Rock MJ et al.
Pediatric Pulmonology, 2023
A Boolean algebra for genetic variants.
Vis JK et al.
Bioinformatics (oxford, England), 2023
β-adrenergic sweat test in children with inconclusive cystic fibrosis diagnosis: Do we need new reference ranges?
Zampoli M et al.
Pediatric Pulmonology, 2023
Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome.
Gunnett MA et al.
Frontiers in Pediatrics, 2023
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A et al.
The European Respiratory Journal, 2022
Accounting for population structure in genetic studies of cystic fibrosis.
Kingston H et al.
Hgg Advances, 2022
Current clinical opinion on CFTR dysfunction and patient risk of pancreatitis: diagnostic and therapeutic considerations.
Phadke MY et al.
Expert Review of Gastroenterology & Hepatology, 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
"Summer hypokalemia" as an initial presentation of cystic fibrosis in a morbidly obese African American adult: case report.
Cao Y et al.
Bmc Nephrology, 2020
Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.
Joynt AT et al.
Plos Genetics, 2020
Cystic fibrosis transmembrane conductance regulator modulators reduce the risk of recurrent acute pancreatitis among adult patients with pancreas sufficient cystic fibrosis.
Akshintala VS et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2019
Sequencing as a first-line methodology for cystic fibrosis carrier screening.
Beauchamp KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Vitamin E status and its determinants in patients with cystic fibrosis.
Sapiejka E et al.
Advances in Medical Sciences, 2018
Brushed nasal epithelial cells are a surrogate for bronchial epithelial CFTR studies.
Brewington JJ et al.
Jci Insight, 2018
An Evaluation of Factors Associated With Pathogenic PRSS1, SPINK1, CTFR, and/or CTRC Genetic Variants in Patients With Idiopathic Pancreatitis.
Jalaly NY et al.
The American Journal of Gastroenterology, 2017
Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era.
Coffey MJ et al.
The Journal of Pediatrics, 2017
Novel insights into the diagnostic and therapeutic challenges of the CFTR metabolic syndrome/CF screen positive indeterminate diagnosis.
Machogu E et al.
Pediatric Pulmonology, 2016
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
Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.
Baker MW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.
Salinas DB et al.
Plos One, 2016
Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens.
Yang X et al.
Fertility and Sterility, 2015
Diabetes-related mortality in adults with cystic fibrosis. Role of genotype and sex.
Lewis C et al.
American Journal of Respiratory and Critical Care Medicine, 2015
CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.
Ziętkiewicz E et al.
Plos One, 2014
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Sosnay PR et al.
Nature Genetics, 2013
Hypochloremia and hyponatremia as the initial presentation of cystic fibrosis in three adults.
Priou-Guesdon M et al.
Annales D'endocrinologie, 2010
Making the diagnosis of cystic fibrosis.
Flume PA et al.
The American Journal of the Medical Sciences, 2008
Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.
McGinniss MJ et al.
Human Genetics, 2005
An unusual presentation of cystic fibrosis in an adult.
Davé S et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 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
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
Groman JD et al.
The New England Journal of Medicine, 2002
Complete screening of the CFTR gene in Argentine cystic fibrosis patients.
Visich A et al.
Clinical Genetics, 2002
[Characterization of 3 microsatellites of the cystic fibrosis gene in Argentine families].
Visich AA et al.
Medicina, 2001
Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations.
Jézéquel P et al.
Molecular Human Reproduction, 2000
[Cystic fibrosis--a disease with many faces. The variable clinical picture versus the heterogeneity of molecular defect].
Sobczynska-Tomaszewska A et al.
Medycyna Wieku Rozwojowego, 0