The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies

Improving qPCR telomere length assays: Controlling for well position effects increases statistical power

(2015) Dan T.A. Eisenberg et al.   AMERICAN JOURNAL OF HUMAN BIOLOGY

Association of sweat chloride concentration at time of diagnosis and CFTR genotype with mortality and cystic fibrosis phenotype

(2015) Edward F. McKone et al.   Journal of Cystic Fibrosis

Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR

(2015) Claire E. Wainwright et al.   NEW ENGLAND JOURNAL OF MEDICINE

Emerging drugs for cystic fibrosis

(2014) Reshma Amin et al.   EXPERT OPINION ON EMERGING DRUGS

A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial

(2014) Michael P Boyle et al.   Lancet Respiratory Medicine

Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis

(2013) Laia Masvidal et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Sputum Biomarkers of Inflammation and Lung Function Decline in Children with Cystic Fibrosis

(2012) Scott D. Sagel et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

CFTRmutation combinations producing frequent complex alleles with different clinical and functional outcomes

(2012) Ayman El-Seedy et al.   HUMAN MUTATION

Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele

(2011) Angela Polizzi et al.   GENETICS AND MOLECULAR BIOLOGY

Do commonin silicotools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

(2010) R Dorfman et al.   CLINICAL GENETICS

A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation

(2010) Marco Lucarelli et al.   GENETICS IN MEDICINE

Estimating the age of CFTR mutations predominantly found in Brittany (Western France)

(2007) Yann Fichou et al.   Journal of Cystic Fibrosis