Correlation between Genotype and Phenotype in Patients with Cystic Fibrosis

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

Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping

1989 • 3,180 citations

Long-Term Study of One Hundred Five Patients with Cystic Fibrosis

1958 • 1,014 citations

Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)

1992 • 937 citations

The Relation between Genotype and Phenotype in Cystic Fibrosis — Analysis of the Most Common Mutation (ΔF₅₀₈)

1990 • 724 citations

Generation of cAMP-Activated Chloride Currents by Expression of CFTR

1991 • 550 citations

Expression of the cystic fibrosis gene in non-epithelial invertebrate cells produces a regulated anion conductance

1991 • 508 citations

Mutations in CFTR associated with mild-disease-form CI- channels with altered pore properties

1993 • 456 citations

A mutation in CFTR produces different phenotypes depending on chromosomal background

1993 • 444 citations

Genetic determination of exocrine pancreatic function in cystic fibrosis.

1992 • 437 citations

The Chest Roentgenogram in Cystic Fibrosis: A New Scoring System

1979 • 366 citations

The systematic evaluation of the chest radiograph in cystic fibrosis

1974 • 305 citations

Improved respiratory prognosis in patients with cystic fibrosis with normal fat absorption

1982 • 275 citations

Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease.

1992 • 202 citations

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium

1992 • 179 citations

Severity of cystic fibrosis in patients homozygous and heterozygous for ΔF508 mutation

1991 • 167 citations

Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis

1990 • 140 citations

Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C → T mutation

1993 • 140 citations

Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.

1991 • 139 citations

Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene

1991 • 112 citations

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells

1992 • 95 citations

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.

1992 • 94 citations

Cystic fibrosis mutations in French Canadians: Three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis

1992 • 80 citations

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

1992 • 80 citations

Association of poor clinical status and heavy exposure to tobacco smoke in patients with cystic fibrosis who are homozygous for the F508 deletion

1992 • 76 citations

Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation

1992 • 65 citations

Pancreatic function and gene deletion F508 in cystic fibrosis.

1990 • 58 citations

Atypical thrombotic and septic complications of totally implantable venous access devices in patients with cystic fibrosis

1992 • 55 citations

Genotype/Phenotype Association in Cystic Fibrosis: Analyses of the ΔF508, R553X, and 3905insT Mutations

1992 • 44 citations

Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.

1992 • 38 citations

Cystic fibrosis: Relationship between clinical status and F508 deletion

1991 • 33 citations