Should isolated Pseudo‐Bartter syndrome be considered a CFTR‐related disorder of infancy?

Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis

(2018) Maxim Ivanov et al.   BMC Medical Genomics

Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules

(2018) Nesrine Baatallah et al.   HUMAN MUTATION

Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

(2017) Philip M. Farrell et al.   JOURNAL OF PEDIATRICS

Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome and Cystic Fibrosis Screen Positive, Inconclusive Diagnosis

(2017) Clement L. Ren et al.   JOURNAL OF PEDIATRICS

Cystic fibrosis: current therapeutic targets and future approaches

(2017) Misbahuddin M. Rafeeq et al.   Journal of Translational Medicine

The diagnosis of cystic fibrosis

(2017) Kris De Boeck et al.   PRESSE MEDICALE

Electrolyte abnormalities in cystic fibrosis: systematic review of the literature

(2013) Elisabetta Scurati-Manzoni et al.   PEDIATRIC NEPHROLOGY

Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

(2012) Agnieszka Sobczyńska-Tomaszewska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Recommendations for the classification of diseases as CFTR-related disorders

(2011) C. Bombieri et al.   Journal of Cystic Fibrosis

Mild cystic fibrosis in patients with the rare P5L CFTR mutation

(2011) Lucia Spicuzza et al.   Journal of Cystic Fibrosis

Hypochloremia and hyponatremia as the initial presentation of cystic fibrosis in three adults

(2009) M. Priou-Guesdon et al.   ANNALES D ENDOCRINOLOGIE

Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships

(2008) Kristina V. Krasnov et al.   HUMAN MUTATION