Population analysis of the major mutation in 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

Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.

Human genetics·2026

Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.

Human genetics·2026

Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

Human genetics·2026

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

Human genetics·2026

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Human genetics·2026

Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China.

Human genetics·2026

A novel de novo multi-exon deletion of SYT1 in a child with Baker-Gordon syndrome.

BMC pediatrics·2026

Locus-specific stratification and prioritization unveil genetic risk mechanism underlying complex diseases.

Nature communications·2026

Genome-wide pQTL mapping in human skin identifies specific genetic regulators and mechanistic links to skin disorders.

Nature communications·2026

Determinants of functional burden pleiotropy and gene dosage responses across human traits.

Nature communications·2026

Discovering common and population-specific QTLs for leaf rust resistance in different Barley populations.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2026

A Normal Phenotype Case of a Small Supernumerary Marker Chromosome Chimeric Carrier with 12p11.21p11.21 Duplication.

Clinical laboratory·2026

Related Experiment Videos

Population analysis of the major mutation in 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.

Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.

Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.

Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China.

A novel de novo multi-exon deletion of SYT1 in a child with Baker-Gordon syndrome.

Locus-specific stratification and prioritization unveil genetic risk mechanism underlying complex diseases.

Genome-wide pQTL mapping in human skin identifies specific genetic regulators and mechanistic links to skin disorders.

Determinants of functional burden pleiotropy and gene dosage responses across human traits.

Discovering common and population-specific QTLs for leaf rust resistance in different Barley populations.

A Normal Phenotype Case of a Small Supernumerary Marker Chromosome Chimeric Carrier with 12p11.21p11.21 Duplication.

Related Experiment Videos

Population analysis of the major mutation in cystic fibrosis

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