Associated Papers
Profile of cystic fibrosis transmembrane conductance regulator (CFTR) gene variants across India and their variability in different geographic regions.
Chowdhury MR et al.
Gene, 2026
Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges.
Glotov AS et al.
Genes, 2025
41595422 (PubMed )
Supplement: genes-17-00003-s001.zip › genes-4033716-supplementary.pdf
Beyond Carrier Status: CFTR Heterozygosity as an Overlooked Clinical Risk Factor for Pancreatitis.
Richter LD et al.
Clinical Genetics, 2025
40468859 (PubMed )
Supplement: CGE-108-726-s001.xlsx › S1_Variant_Class
Genetic Heterogeneity Correlated with Phenotypic Variability in 48 Patients with Cystic Fibrosis.
Donos MA et al.
Journal of Clinical Medicine, 2025
A Unique Combination of Heterozygous <italic>CFTR</italic> Gene Variants in a Person with Cystic Fibrosis and <italic>Mycobacterium abscessus</italic> Infection.
Lemson A et al.
Respiration; International Review of Thoracic Diseases, 2025
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.
Makarova M et al.
International Journal of Molecular Sciences, 2023
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
35313924 (PubMed )
Supplement: 13023_2022_2279_MOESM3_ESM.xls › TableS2
Frequency of CFTR variants in southern Brazil and indication for modulators therapy in patients with cystic fibrosis.
Lima EDS et al.
Genetics and Molecular Biology, 2021
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
Kiseleva AV et al.
Journal of Personalized Medicine, 2020
32971794 (PubMed )
Supplement: jpm-10-00140-s001.pdf
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM10_ESM.xlsx › Supplementary_Data_7
Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador.
Lascano-Vaca Y et al.
Bmc Pediatrics, 2020
Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.
Alper OM et al.
Human Mutation, 2004
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