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

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

Identification of the Cystic Fibrosis Gene: Genetic Analysis

1989 • 4,105 citations

Update on Key Emerging Challenges in Cystic Fibrosis

2014 • 3,606 citations

Therapy of CF-Patients with Amitriptyline and Placebo - a Randomised, Double-Blind, Placebo-Controlled Phase IIb Multicenter, Cohort-Study

2013 • 2,504 citations

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

1990 • 1,756 citations

A TEST FOR CONCENTRATION OF ELECTROLYTES IN SWEAT IN CYSTIC FIBROSIS OF THE PANCREAS UTILIZING PILOCARPINE BY IONTOPHORESIS

1959 • 1,397 citations

Correlation between Genotype and Phenotype in Patients with Cystic Fibrosis

1993 • 552 citations

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1991 • 550 citations

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

1992 • 457 citations

Efficiency of gene transfer for restoration of normal airway epithelial function in cystic fibrosis

1992 • 431 citations

Reproductive Failure in Males with Cystic Fibrosis

1968 • 375 citations

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

1990 • 353 citations

Molecular characterization of cystic fibrosis: 16 Novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

1992 • 274 citations

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

1994 • 186 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

Genital Abnormalities in Male Patients with Cystic Fibrosis

1971 • 173 citations

Expression of the cystic fibrosis gene in human foetal tissues

1993 • 159 citations

Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.

1992 • 122 citations

Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues

1993 • 122 citations

Cystic Fibrosis Gene Mutation in Two Sisters with Mild Disease and Normal Sweat Electrolyte Levels

1991 • 117 citations

Congenital absence of the vasa deferentia presenting with infertility.

1985 • 116 citations

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France

1993 • 99 citations

Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers

1993 • 99 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

Multiplex PCR amplification of three microsatellites within the CFTR gene

1992 • 78 citations

Identification of 12 novel mutations in the CFTR gene

1993 • 71 citations

Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes

1994 • 70 citations

Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene

1992 • 68 citations

Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area

1993 • 45 citations

Vasa Aplasia and Cystic Fibrosis

1990 • 44 citations

Quantitative evaluation of spermatogenesis by testicular histology in men with congenital absence of the vas deferens undergoing epididymal sperm aspiration

1990 • 40 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

Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14)

1994 • 28 citations

A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype

1993 • 28 citations

Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype

1993 • 16 citations

Cystic fibrosis allele frequency, sex ratio anomalies and fertility: a new theory for the dissemination of mutant alleles

1991 • 13 citations