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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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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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Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13

Nature genetics, 1999-06, Vol.22 (2), p.128-129

1999

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Genetic determination of exocrine pancreatic function in cystic fibrosis

American journal of human genetics, 1992-06, Vol.50 (6), p.1178-1184

1992

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

The Journal of pediatrics, 1995-11, Vol.127 (5), p.705-710

1995

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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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Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia

The Lancet (British edition), 1995-06, Vol.345 (8964), p.1578-1578

1995

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CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel

Methods in molecular medicine, 2002, Vol.70, p.3

2002

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

Genomics (San Diego, Calif.), 1991-05, Vol.10 (1), p.229-235

1991

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A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

American journal of human genetics, 1991-12, Vol.49 (6), p.1256-1262

1991

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Cystic Fibrosis Locus Defined by a Genetically Linked Polymorphic DNA Marker

Science (American Association for the Advancement of Science), 1985-11, Vol.230 (4729), p.1054-1057

1985

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

The New England journal of medicine, 1991-12, Vol.325 (23), p.1630-1634

1991

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Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the hutterite population

American journal of human genetics, 1993-03, Vol.52 (3), p.609-615

1993

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Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 +1G→T and 711 +1G→T mutations

Human molecular genetics, 1993-06, Vol.2 (6), p.683-687

1993

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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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Skipping of exon 12 as a consequence of a point mutation (1898 + 5G → T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family

Clinical genetics, 1995-03, Vol.47 (3), p.125-132

1995

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Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene

Human mutation, 1995, Vol.5 (1), p.43-47

1995

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Two novel frameshift deletions (1924del7, 2055del9→A) in the CFTR gene in Mexican cystic fibrosis patients

Human mutation, 1997, Vol.10 (3), p.239-240

1997

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Identification of the Cystic Firbrosis Gene: Genetic Analysis

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

1989

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

The New England journal of medicine, 1991-12, Vol.325 (23), p.1630

1991

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Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations

Genetic testing, 2001-09, Vol.5 (3), p.235-242

2001

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Chromium and its speciation in water samples by HPLC/ICP-MS – technique establishing metrological traceability: A review since 2000

Talanta (Oxford), 2015-01, Vol.132, p.814-828

2015

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Relationship between Translational and Rotational Dynamics of Alkyltriethylammonium-Based Ionic Liquids

International journal of molecular sciences, 2022-02, Vol.23 (3), p.1688

2022

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Correlated Dynamics in Ionic Liquids by Means of NMR Relaxometry: Butyltriethylammonium bis(Trifluoromethanesulfonyl)imide as an Example

International journal of molecular sciences, 2021-08, Vol.22 (17), p.9117

2021

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Study on Speciation of As, Cr, and Sb in Bottled Flavored Drinking Water Samples Using Advanced Analytical Techniques IEC/SEC-HPLC/ICP-DRC-MS and ESI-MS/MS

Molecules (Basel, Switzerland), 2019-02, Vol.24 (4), p.668

2019

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Cystic Fibrosis Transmembrane Conductance Regulator
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Identification of the Cystic Fibrosis Gene: Genetic Analysis

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

Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13

Genetic determination of exocrine pancreatic function in cystic fibrosis

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

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

Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia

CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel

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

A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

Cystic Fibrosis Locus Defined by a Genetically Linked Polymorphic DNA Marker

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

Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the hutterite population

Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 +1G→T and 711 +1G→T mutations

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

Skipping of exon 12 as a consequence of a point mutation (1898 + 5G → T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family

Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene

Two novel frameshift deletions (1924del7, 2055del9→A) in the CFTR gene in Mexican cystic fibrosis patients

Identification of the Cystic Firbrosis Gene: Genetic Analysis

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

Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations

Chromium and its speciation in water samples by HPLC/ICP-MS – technique establishing metrological traceability: A review since 2000

Relationship between Translational and Rotational Dynamics of Alkyltriethylammonium-Based Ionic Liquids

Correlated Dynamics in Ionic Liquids by Means of NMR Relaxometry: Butyltriethylammonium bis(Trifluoromethanesulfonyl)imide as an Example

Study on Speciation of As, Cr, and Sb in Bottled Flavored Drinking Water Samples Using Advanced Analytical Techniques IEC/SEC-HPLC/ICP-DRC-MS and ESI-MS/MS

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