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

The New England journal of medicine, 1990-11, Vol.323 (22), p.1517-1522

1990

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Identification of Mutations in Regions Corresponding to the Two Putative Nucleotide (ATP)-Binding Folds of the Cystic Fibrosis Gene

Proceedings of the National Academy of Sciences - PNAS, 1990-11, Vol.87 (21), p.8447-8451

1990

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Serum CA 19-9 levels as a diagnostic marker in cystic fibrosis patients with borderline sweat tests

Clinical and experimental medicine, 2003-09, Vol.3 (2), p.119-123

2003

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Rapid nonradioactive detection of the major cystic fibrosis mutation

American journal of human genetics, 1990-02, Vol.46 (2), p.395-396

1990

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Congenital bilateral absence of vas deferens in the absence of cystic fibrosis

The Lancet (British edition), 1994-11, Vol.344 (8935), p.1473-1474

1994

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

The Lancet (British edition), 1993-07, Vol.342 (8862), p.25-26

1993

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Identification of the Cystic Fibrosis Gene: Genetic Analysis

Science (American Association for the Advancement of Science), 1989-09, Vol.245 (4922), p.1073-1080

1989

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DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis

American journal of human genetics, 1989-06, Vol.44 (6), p.827-834

1989

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

Science (American Association for the Advancement of Science), 1989-09, Vol.245 (4922), p.1066-1073

1989

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Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping

Science (American Association for the Advancement of Science), 1989-09, Vol.245 (4922), p.1059-1065

1989

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

Genomics (San Diego, Calif.), 1991-05, Vol.10 (1), p.214-228

1991

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Evidence of Genetic Heterogeneity in the Long QT Syndrome

Science (American Association for the Advancement of Science), 1993-06, Vol.260 (5116), p.1960-1962

1993

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

The Lancet (British edition), 1993-07, Vol.342 (8862), p.25-26

1993

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Preimplantation diagnosis of cystic fibrosis by simultaneous detection of the W1282X and ΔF508 mutations

Human reproduction (Oxford), 1994-09, Vol.9 (9), p.1676-1680

1994

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

American journal of human genetics, 1992-01, Vol.50 (1), p.222-228

1992

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Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis

Human genetics, 1993-10, Vol.92 (3), p.289-295

1993

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Cystic fibrosis manifested as undescended testis and absence of vas deferens

Pediatrics (Evanston), 1992-12, Vol.90 (6), p.982-983

1992

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Correlation between genotype and phenotype in patients with cystic fibrosis

The New England journal of medicine, 1994-03, Vol.330 (12), p.866-866

1994

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Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene

American journal of human genetics, 1988-11, Vol.43 (5), p.645-663

1988

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Methods for analysis of multiple cystic fibrosis mutations

Human genetics, 1991-09, Vol.87 (5), p.613-617

1991

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DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis

Nucleic acids research, 1989-09, Vol.17 (17), p.7117-7117

1989

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DNAse I sensitivity of Microtus agrestis active, inactive and reactivated X chromosomes in mouse-Microtus cell hybrids

Chromosoma, 1988-01, Vol.96 (3), p.227-230

1988

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DNase I sensitivity in facultative and constitutive heterochromatin

Chromosoma, 1985, Vol.93 (1), p.38-42

1985

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The significance of sweat Cl/Na ratio in patients with borderline sweat test

Pediatric pulmonology, 1995-12, Vol.20 (6), p.369-371

1995

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Regions of active chromatin conformation in inactive male meiotic sex chromosomes of the mouse

Chromosoma, 1987-01, Vol.95 (3), p.167-170

1987

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

Identification of Mutations in Regions Corresponding to the Two Putative Nucleotide (ATP)-Binding Folds of the Cystic Fibrosis Gene

Serum CA 19-9 levels as a diagnostic marker in cystic fibrosis patients with borderline sweat tests

Rapid nonradioactive detection of the major cystic fibrosis mutation

Congenital bilateral absence of vas deferens in the absence of cystic fibrosis

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

Identification of the Cystic Fibrosis Gene: Genetic Analysis

DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis

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

Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping

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

Evidence of Genetic Heterogeneity in the Long QT Syndrome

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

Preimplantation diagnosis of cystic fibrosis by simultaneous detection of the W1282X and ΔF508 mutations

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

Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis

Cystic fibrosis manifested as undescended testis and absence of vas deferens

Correlation between genotype and phenotype in patients with cystic fibrosis

Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene

Methods for analysis of multiple cystic fibrosis mutations

DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis

DNAse I sensitivity of Microtus agrestis active, inactive and reactivated X chromosomes in mouse-Microtus cell hybrids

DNase I sensitivity in facultative and constitutive heterochromatin

The significance of sweat Cl/Na ratio in patients with borderline sweat test

Regions of active chromatin conformation in inactive male meiotic sex chromosomes of the mouse

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