• Publications
  • Influence
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
Overlapping complementary DNA clones were isolated from epithelial cell libraries with a genomic DNA segment containing a portion of the putative cystic fibrosis (CF) locus, which is on chromosome 7.Expand
  • 3,389
  • 213
  • PDF
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
Overlapping complementary DNA clones were isolated from epithelial cell libraries with a genomic DNA segment containing a portion of the putative cystic fibrosis (CF) locus, which is on chromosome 7.Expand
  • 3,700
  • 36
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
Allelic heterogeneity in disease-causing genes presents a substantial challenge to the translation of genomic variation into clinical practice. Few of the almost 2,000 variants in the cystic fibrosisExpand
  • 425
  • 27
  • PDF
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the diagnostic process. The limitations of genotypingExpand
  • 471
  • 27
  • PDF
Genotype and Phenotype in Cystic Fibrosis
Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene which encodes a protein expressed in the apical membrane of exocrine epithelial cells. CFTRExpand
  • 457
  • 18
Cystic fibrosis: genotypic and phenotypic variations.
Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identified in 1989 on the basis of its map location on chromosome 7. The encoded gene product, named cysticExpand
  • 596
  • 17
Recommendations for the classification of diseases as CFTR-related disorders.
Several diseases have been clinically or genetically related to cystic fibrosis (CF), but a consensus definition is lacking. Here, we present a proposal for consensus guidelines on cystic fibrosisExpand
  • 268
  • 17
  • PDF
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.
Additional mutations in the cystic fibrosis (CF) gene were identified in the regions corresponding to the two putative nucleotide (ATP)-binding folds (NBFs) of the predicted polypeptide. The patientExpand
  • 394
  • 15
  • PDF
Normalization of Obesity-Associated Insulin Resistance through Immunotherapy: CD4+ T Cells Control Glucose Homeostasis
Obesity and its associated metabolic syndromes represent a growing global challenge, yet mechanistic understanding of this pathology and current therapeutics are unsatisfactory. We discovered thatExpand
  • 455
  • 13
  • PDF
Cystic fibrosis transmembrane conductance regulator function is suppressed in cigarette smokers.
RATIONALE Cigarette smoke extract inhibits chloride secretion in human bronchial epithelial cells. Oxidants decrease gene expression, protein expression, and function of the cystic fibrosisExpand
  • 218
  • 13
...
1
2
3
4
5
...