ArticlePharmacogenomics and personalized medicine2020
Cystic Fibrosis Polymorphic Variants in a Russian Population.
Article in Pharmacogenomics and personalized medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 14 citations in OpenAlex.
- Genetically engineered approaches to the treatment of cystic fibrosis.Biophysical reviews · 2025Review
- The Spectrum and Carrier Frequencies of Common Pathogenic Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Men from the General Population: The Role of Ethnicity.International journal of molecular sciences · 2025Article
- Diagnosis and treatment of cystic fibrosis in India: What is at stake for developing countries?Journal of biosciences · 2024Review
- Pathogenic Variants and Genotypes of theInternational journal of molecular sciences · 2023Article
- L138ins Variant of theGenes · 2023Article
- TheInternational journal of molecular sciences · 2023Article
- Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.Journal of personalized medicine · 2022Article
- Gene Polymorphism of Biotransformation Enzymes and Ciprofloxacin Pharmacokinetics in Pediatric Patients with Cystic Fibrosis.Biomedicines · 2022Article
- A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.Journal of personalized medicine · 2020Article
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCystic fibrosis (CF) is one of the most common monogenic diseases with an autosomal recessive inheritance. Carrier screening leads to a reduction in the number of children born with CF disease. The aim of this study was to develop the custom panel for the diagnosis of heterozygous carriage of polymorphic variants in the PATIENTS AND
methodsThe diagnostic panel was designed on the basis of data from the register of CF patients in Russia for 2017 and validated on 22 blood samples of patients with previously genetically established CF. The study participants (n=642) for CF variants estimation were randomly selected from the population-based cohort study ESSE-Vologda. Genotypes were determined by real-time PCR on the QuantStudio 12K Flex Real-Time PCR System. Data processing was performed using the TaqMan Genotyper Software.
resultsThe proposed diagnostic panel allowed simultaneous analysis of 60 variants of the
conclusionHigh frequency of heterozygous
Indexed as
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.