Associated Papers
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Pharmacogenetics in Italy: current landscape and future prospects.
Floris M et al.
Human Genomics, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Aminoglycoside induced ototoxicity risk in the cystic fibrosis population: The utility of large-scale screening.
Lopes J et al.
Pediatric Pulmonology, 2023
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience.
Girardet A et al.
Clinical Genetics, 2015
Personalised medicine in cystic fibrosis is unaffordable.
Balfour-Lynn IM
Paediatric Respiratory Reviews, 2014
CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.
El-Seedy A et al.
Human Mutation, 2012
[Genetic aspects of congenital sensorineural hearing loss].
Blanchard M et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2012
Aminoglycoside antibiotics cochleotoxicity in paediatric cystic fibrosis (CF) patients: A study using extended high-frequency audiometry and distortion product otoacoustic emissions.
Al-Malky G et al.
International Journal of Audiology, 2011
Read-through strategies for suppression of nonsense mutations in Duchenne/ Becker muscular dystrophy: aminoglycosides and ataluren (PTC124).
Finkel RS
Journal of Child Neurology, 2010
[Haplotypes associated with the cystic fibrosis gene (CF)].
Ferec C
Journal De Genetique Humaine, 1988