Molecular genetics of cystic fibrosis

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·2002

Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31.

Genomics·2001

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

Nature genetics·2001

Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients.

Human biology·2001

Regulated expression of the human CFTR gene in epithelial cells.

Molecular therapy : the journal of the American Society of Gene Therapy·2001

Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5.

Nucleic acids research·2001

Antibacterial and antibiofilm activities of Laurus nobilis L. essential oil against Staphylococcus aureus strains associated with oral infections.

Pathologie-biologie·2015

Oxidative damage and histopathological changes in lung of rat chronically exposed to nicotine alone or associated to ethanol.

Pathologie-biologie·2015

Biological diagnosis of diabetes mellitus.

Pathologie-biologie·2015

Association of CagPAI integrity with severeness of Helicobacter pylori infection in patients with gastritis.

Pathologie-biologie·2015

[Diagnostic performance of graphical anomalies in the detection of large platelets and platelet clumps].

Pathologie-biologie·2015

Association analysis of APOA5 rs662799 and rs3135506 polymorphisms with obesity in Moroccan patients.

Pathologie-biologie·2015

[Genetic and functional characterization of a novel KIT splicing variant in a Chinese three-generation pedigree with piebaldism].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences·2026

Genome-wide association study of sarcopenia index reveals sex-stratified genetic architecture.

Biology of sex differences·2026

Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.

Ophthalmology science·2026

Genetic analysis, reproductive decision-making, and pregnancy outcomes in 51 Chinese osteogenesis imperfecta families.

Journal of assisted reproduction and genetics·2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

American journal of human genetics·2026

Natural variation in SL6 determines fatty acid components and seed longevity in rice.

Science advances·2026

Related Experiment Videos

Molecular genetics of cystic fibrosis

Related Concept Videos

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.

Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31.

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients.

Regulated expression of the human CFTR gene in epithelial cells.

Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5.

Antibacterial and antibiofilm activities of Laurus nobilis L. essential oil against Staphylococcus aureus strains associated with oral infections.

Oxidative damage and histopathological changes in lung of rat chronically exposed to nicotine alone or associated to ethanol.

Biological diagnosis of diabetes mellitus.

Association of CagPAI integrity with severeness of Helicobacter pylori infection in patients with gastritis.

[Diagnostic performance of graphical anomalies in the detection of large platelets and platelet clumps].

Association analysis of APOA5 rs662799 and rs3135506 polymorphisms with obesity in Moroccan patients.

[Genetic and functional characterization of a novel KIT splicing variant in a Chinese three-generation pedigree with piebaldism].

Genome-wide association study of sarcopenia index reveals sex-stratified genetic architecture.

Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.

Genetic analysis, reproductive decision-making, and pregnancy outcomes in 51 Chinese osteogenesis imperfecta families.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Natural variation in SL6 determines fatty acid components and seed longevity in rice.

Related Experiment Videos

Molecular genetics of cystic fibrosis

Related Concept Videos

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