The Molecular Basis for Disease Variability in 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

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

Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens

1995 • 949 citations

Cystic fibrosis: molecular biology and therapeutic implications

1992 • 820 citations

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

1990 • 724 citations

Correlation between Genotype and Phenotype in Patients with Cystic Fibrosis

1993 • 552 citations

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

1993 • 515 citations

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis

1992 • 457 citations

A mutation in CFTR produces different phenotypes depending on chromosomal background

1993 • 444 citations

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

1994 • 440 citations

Genetic determination of exocrine pancreatic function in cystic fibrosis.

1992 • 437 citations

The spectrum of cystic fibrosis mutations

1992 • 413 citations

The origin of the major cystic fibrosis mutation (ΔF508) in European populations

1994 • 349 citations

Population variation of common cystic fibrosis mutations

1994 • 312 citations

CFTR and outward rectifying chloride channels are distinct proteins with a regulatory relationship

1993 • 298 citations

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

1982 • 275 citations

Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations

1995 • 231 citations

Cystic fibrosis transmembrane conductance regulator: A chloride channel with novel regulation

1992 • 214 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

Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis

1995 • 189 citations

The Genetic Basis of Congenital Bilateral Absence of the Vas Deferens and Cystic Fibrosis

1994 • 186 citations

A Cystic Fibrosis Mutation Associated with Mild Lung Disease

1995 • 176 citations

Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1991 • 174 citations

Genital Abnormalities in Male Patients with Cystic Fibrosis

1971 • 173 citations

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

1991 • 167 citations

Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

1995 • 148 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

Colipase and lipase secretion in childhood-onset pancreatic insufficiency. Delineation of patients with steatorrhea secondary to relative colipase deficiency.

1984 • 124 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

Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected

1995 • 114 citations

DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis.

1989 • 105 citations

Smith‐Lemli‐Opitz syndrome: Prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid

1995 • 97 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

Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens

1994 • 89 citations

Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens

1993 • 85 citations

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

1992 • 80 citations

Expression of cystic fibrosis transmembrane conductance regulator in a model epithelium

1994 • 76 citations

Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel

1995 • 71 citations

Familial concordance of pancreatic function in cystic fibrosis

1989 • 69 citations

CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.

1995 • 65 citations

3849+10 kb C→T mutation and disease severity in cystic fibrosis

1995 • 63 citations

Pancreatic function and gene deletion F508 in cystic fibrosis.

1990 • 58 citations

Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis

1992 • 54 citations

Functions of the Cystic Fibrosis Transmembrane Conductance Regulator Protein

1995 • 52 citations

Improved Prognosis in CF Patients with Normal Fat Absorption

1984 • 52 citations

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

1992 • 44 citations

Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences

1995 • 38 citations

Cystic Fibrosis Presenting With Sinus Disease in Children

1993 • 35 citations

Cystic fibrosis: Relationship between clinical status and F508 deletion

1991 • 33 citations

The relationship between genotype and phenotype in cystic fibrosis

1995 • 32 citations

Cystic fibrosis patients from the black sea region: The 1677delTA mutation

1994 • 20 citations

A cystic fibrosis patient who is homozygous for the G85E mutation has very mild disease.

1991 • 18 citations

Ultrastructural localization of variant forms of cystic fibrosis transmembrane conductance regulator in human bronchial epithelial of xenografts.

1994 • 11 citations

Association of 1078 del T cystic fibrosis mutation with severe disease.

1994 • 10 citations

Infant Pulmonary Function Testing Workshop I Boston, Massachusetts, USA, May 19, 1990

1991 • 7 citations