Associated Papers
Prevalence, type, and clinical implications of CFTR variants in bronchiectasis.
Gramegna A et al.
Pulmonology, 2026
Therapeutic hopes for CFTR-related recurrent pancreatitis: a case-series.
Gohy S et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2026
Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.
Paiella S et al.
United European Gastroenterology Journal, 2026
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
Long-term Outcomes of Pediatric CFSPID: A 15-Year Clinical and Genomic Study Across Newborn Screening Cystic Fibrosis Units.
Morales-Tirado A et al.
Archivos De Bronconeumologia, 2026
Genetic and Electrophysiological Characterization of Acute Recurrent Pancreatitis in Israeli Patients.
Tiosano M et al.
Pancreas, 2025
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
CFTR Modulator Response in Nasal Organoids Derived from People with Cystic Fibrosis.
Lo Cicero S et al.
Cells, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
Association of IgG4-related disease with human inborn errors of immunity.
Batani V et al.
Rheumatology (oxford, England), 2025
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
General Trends in the Calnexin-Dependent Expression and Pharmacological Rescue of Clinical CFTR Variants.
Tedman A et al.
Biorxiv : the Preprint Server for Biology, 2025
Current Status of Cystic Fibrosis in Türkiye: Data from the National Registry.
Ademhan Tural D et al.
Thoracic Research and Practice, 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
Eligibility of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator therapies: cohort of cystic fibrosis registry of Türkiye.
Akgül Erdal M et al.
The Turkish Journal of Pediatrics, 2025
Recurrent eosinophilia with a novel homozygous ARPC1B mutation.
Sonmez G et al.
Frontiers of Medicine, 2025
Metabolomic profiling of saliva from cystic fibrosis patients.
Caterino M et al.
Scientific Reports, 2025
Elexacaftor/tezacaftor/ivacaftor efficacy in intestinal organoids with rare CFTR variants in comparison to CFTR-F508del and CFTR-wild type controls.
Kroes S et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025
An electronic medical record retrieval system can be used to identify missed diagnosis in patients with primary ciliary dyskinesia.
Zhou W et al.
Journal of Internal Medicine, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Next-Generation Sequencing Infertility Panel in Turkey: First Results.
Ikbal Atli E et al.
Balkan Journal of Medical Genetics : Bjmg, 2024
Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] in Cystic Fibrosis and Tracing of a Founder Effect in Mexican Families.
Mendiola-Vidal NG et al.
Life (basel, Switzerland), 2024
The expanded French compassionate programme for elexacaftor-tezacaftor-ivacaftor use in people with cystic fibrosis without a F508del CFTR variant: a real-world study.
Burgel PR et al.
The Lancet. Respiratory Medicine, 2024
Impact of the expanded label for elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with no F508del variant in the USA.
Cromwell EA et al.
The European Respiratory Journal, 2024
The Role of Pancreatitis Risk Genes in Endocrine Insufficiency Development After Acute Pancreatitis in Children.
Abu-El-Haija M et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2024
Identification and Properties of TRPV4 Mutant Channels Present in Polycystic Kidney Disease Patients.
Hernández-Vega AM et al.
Function (oxford, England), 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
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.
Mendes C et al.
Molecular Genetics and Metabolism Reports, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 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
Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.
Kovanda A et al.
International Journal of Molecular Sciences, 2024
ECFS standards of care on CFTR-related disorders: Identification and care of the disorders.
Simmonds NJ et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2024
A De Novo CaSR Missense Variant in Combination with Two Inherited Missense Variants in CFTR and SPINK1 Detected in a Patient with Chronic Pancreatitis.
Bontempo P et al.
Biomedicines, 2024
Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis.
Dermine S et al.
Clinics and Research in Hepatology and Gastroenterology, 2024
Update on advances in cystic fibrosis towards a cure and implications for primary care clinicians.
Terlizzi V et al.
Current Problems in Pediatric and Adolescent Health Care, 2024
Analysis of AlphaMissense data in different protein groups and structural context.
Tordai H et al.
Scientific Data, 2024
Diagnosing Cystic Fibrosis in the 21st Century-A Complex and Challenging Task.
Anton-Păduraru DT et al.
Diagnostics (basel, Switzerland), 2024
Comparison of refugee patients with cystic fibrosis and their counterpart children from Turkey during the war.
Yılmaz Aİ et al.
European Journal of Pediatrics, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024