Comprehensive Mutation Screening in a Cystic Fibrosis Center

Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA

1989 • 7,327 citations

Identification of the Cystic Fibrosis Gene: Genetic Analysis

1989 • 4,105 citations

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

1989 • 3,707 citations

Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping

1989 • 3,180 citations

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

1990 • 1,756 citations

Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

1993 • 1,432 citations

Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

1992 • 1,230 citations

Glycerol Reverses the Misfolding Phenotype of the Most Common Cystic Fibrosis Mutation

1996 • 518 citations

Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations

1996 • 482 citations

A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

1994 • 440 citations

Biosynthesis and Degradation of CFTR

1999 • 406 citations

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.

1998 • 392 citations

A Pilot Clinical Trial of Oral Sodium 4-Phenylbutyrate (Buphenyl) in Δ F508-Homozygous Cystic Fibrosis Patients

1998 • 335 citations

Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line

1997 • 328 citations

Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene

1994 • 190 citations

A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.

1995 • 121 citations

Defective function of the cystic fibrosis-causing missense mutation G551D is recovered by genistein

1999 • 120 citations

Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease

1998 • 104 citations

Identification of 12 novel mutations in the CFTR gene

1993 • 71 citations

Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in theCFTR gene

1997 • 66 citations

Strategies for correcting the delta F508 CFTR protein-folding defect.

1997 • 55 citations

Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations

1996 • 55 citations

Two novel mutations in a cystic fibrosis patient of Chinese origin

1999 • 34 citations

Distribution of CFTR Mutations in Cystic Fibrosis Patients of Tunisian Origin: Identification of Two Novel Mutations

1996 • 34 citations

Mutation characterization ofCFTR gene in 206 Northern Irish CF families: Thirty mutations, including two novel, account for 94% of CF chromosomes

1996 • 25 citations

Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C)

1998 • 18 citations

Genomic DNA sequence of Rhesus (M. mulatta) cystic fibrosis (CFTR) gene

1998 • 18 citations

Single-stranded conformation polymorphism analysis of the CFTR gene in slovenian cystic fibrosis patients: Detection of mutations and sequence variations

1993 • 18 citations

CFTR gene analysis in cystic fibrosis patients: detection of 91% of molecular defects and identification of the novel mutation D979V.

1997 • 5 citations