Genotype-phenotype correlations in cystic fibrosis

ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2024

Cystic fibrosis drug trial design in the era of CFTR modulators associated with substantial clinical benefit: stakeholders' consensus view.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2020

Efficacy and safety of ataluren in patients with nonsense-mutation cystic fibrosis not receiving chronic inhaled aminoglycosides: The international, randomized, double-blind, placebo-controlled Ataluren Confirmatory Trial in Cystic Fibrosis (ACT CF).

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2020

Congenital myopathy due to myosin heavy chain 2 mutation presenting as chronic aspiration pneumonia in infancy.

Neuromuscular disorders : NMD·2017

High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2016

Recommendations for the classification of diseases as CFTR-related disorders.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2011

Utilization of Des-Gamma-Carboxy-Prothrombin in Estimating Vitamin K Status in People With Cystic Fibrosis: A Single Center Retrospective Review.

Pediatric pulmonology·2026

Rhinovirus Species in Acute Respiratory Tract Infections and the Risk of Asthma in Children.

Pediatric pulmonology·2026

Systematic Reanalysis of Whole-Exome Sequencing in Genetically Unsolved Pediatric Primary Ciliary Dyskinesia.

Pediatric pulmonology·2026

Effectiveness of Continuous Levalbuterol Versus Albuterol During a National Shortage: A Retrospective Observational Cohort Study.

Pediatric pulmonology·2026

Management Strategies for Hepatotoxicity Associated With Elexacaftor/Tezacaftor/Ivacaftor: Results of a Provider Survey.

Pediatric pulmonology·2026

Association of Social Drivers of Health With Hospitalizations for Pediatric Asthma.

Pediatric pulmonology·2026

Expanded prevalence of group 4 capsule expression and its genetic requirements in a broad array of Shigella strains.

mSphere·2026

Integrating Genome-Wide Association Study and Transcriptomics to Unravel the Genetic Regulatory Mechanism of Grape Fruit Shape and Screen Hormone-Related Candidate Genes.

Journal of agricultural and food chemistry·2026

Risk Reclassification Beyond BMI by Waist Circumference and Waist-to-Hip Ratio Across 9 Cardiovascular Outcomes: Results From the Cross-Cohort Collaboration.

Journal of the American College of Cardiology·2026

Effects of growth hormone therapy on facial anthropometric features in children with growth disorders: a cohort study.

Annals of medicine and surgery (2012)·2026

Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseases.

Frontiers in genetics·2026

Loss of ABCA4 from photoreceptor discs is associated with glial transcriptomic changes in retinal organoids.

Stem cells (Dayton, Ohio)·2026

Related Experiment Videos

Genotype-phenotype correlations in cystic fibrosis

Related Concept Videos

ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals.

Cystic fibrosis drug trial design in the era of CFTR modulators associated with substantial clinical benefit: stakeholders' consensus view.

Efficacy and safety of ataluren in patients with nonsense-mutation cystic fibrosis not receiving chronic inhaled aminoglycosides: The international, randomized, double-blind, placebo-controlled Ataluren Confirmatory Trial in Cystic Fibrosis (ACT CF).

Congenital myopathy due to myosin heavy chain 2 mutation presenting as chronic aspiration pneumonia in infancy.

High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia.

Recommendations for the classification of diseases as CFTR-related disorders.

Utilization of Des-Gamma-Carboxy-Prothrombin in Estimating Vitamin K Status in People With Cystic Fibrosis: A Single Center Retrospective Review.

Rhinovirus Species in Acute Respiratory Tract Infections and the Risk of Asthma in Children.

Systematic Reanalysis of Whole-Exome Sequencing in Genetically Unsolved Pediatric Primary Ciliary Dyskinesia.

Effectiveness of Continuous Levalbuterol Versus Albuterol During a National Shortage: A Retrospective Observational Cohort Study.

Management Strategies for Hepatotoxicity Associated With Elexacaftor/Tezacaftor/Ivacaftor: Results of a Provider Survey.

Association of Social Drivers of Health With Hospitalizations for Pediatric Asthma.

Expanded prevalence of group 4 capsule expression and its genetic requirements in a broad array of Shigella strains.

Integrating Genome-Wide Association Study and Transcriptomics to Unravel the Genetic Regulatory Mechanism of Grape Fruit Shape and Screen Hormone-Related Candidate Genes.

Risk Reclassification Beyond BMI by Waist Circumference and Waist-to-Hip Ratio Across 9 Cardiovascular Outcomes: Results From the Cross-Cohort Collaboration.

Effects of growth hormone therapy on facial anthropometric features in children with growth disorders: a cohort study.

Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseases.

Loss of ABCA4 from photoreceptor discs is associated with glial transcriptomic changes in retinal organoids.

Related Experiment Videos

Genotype-phenotype correlations in cystic fibrosis

Related Concept Videos

Related Articles