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High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients

BMC genomics, 2022-04, Vol.23 (1), p.252-252, Article 252

2022

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Cystic Fibrosis Mortality in Childhood. Data from European Cystic Fibrosis Society Patient Registry

International journal of environmental research and public health, 2018-09, Vol.15 (9), p.2020

2018

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Comprehensive Assessment of CFTR Modulators' Therapeutic Efficiency for N1303K Variant

International journal of molecular sciences, 2024-02, Vol.25 (5), p.2770

2024

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Burkholderia cepacia in cystic fibrosis children and adolescents: overall survival and immune alterations

Frontiers in cellular and infection microbiology, 2024-07, Vol.14, p.1374318

2024

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Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation

Frontiers in genetics, 2021-06, Vol.12, p.678374-678374

2021

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Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients

Genes, 2020-05, Vol.11 (5), p.554

2020

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Advances in the Study of Common and Rare CFTR Complex Alleles Using Intestinal Organoids

Journal of personalized medicine, 2024-02, Vol.14 (2), p.129

2024

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Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients

Genes, 2020-09, Vol.11 (10), p.1137

2020

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Tu1299 International Prospective Study of Distal Intestinal Obstruction Syndrome (DIOS)

Gastroenterology (New York, N.Y. 1943), 2014-05, Vol.146 (5), p.S-806-S-807

2014

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Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening-Towards a Consistent Definition and Data Acquisition

International journal of neonatal screening, 2023-11, Vol.9 (4), p.65

2023

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Newborn Screening for Cystic Fibrosis in Russia: A Catalyst for Improved Care

International journal of neonatal screening, 2020-06, Vol.6 (2), p.34-34

2020

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Contribution of pancreatic enzyme replacement therapy to survival and quality of life in patients with pancreatic exocrine insufficiency

World journal of gastroenterology : WJG, 2019-05, Vol.25 (20), p.2430-2441

2019

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Clinical Efficacy and Safety of Ivacaftor/Lumacaftor Combination in Patients with Cystic Fibrosis: International Studies Review

Voprosy sovremennoĭ pediatrii, 2021-12, Vol.20 (6s), p.558-566

2021

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Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients: L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients

Journal of medical science, 2020-03, Vol.89 (1), p.e383

2020

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Comprehensive Assessment of ICFTR/I Modulators’ Therapeutic Efficiency for N1303K Variant

International journal of molecular sciences, 2024-02, Vol.25 (5)

2024

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Serum bile acids in cystic fibrosis patients – glycodeoxycholic acid as a potential marker of liver disease

Digestive and liver disease, 2022-01, Vol.54 (1), p.111-117

2022

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Advances in the Study of Common and Rare ICFTR/I Complex Alleles Using Intestinal Organoids

Journal of personalized medicine, 2024-01, Vol.14 (2)

2024

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Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis

Journal of cystic fibrosis, 2023-01, Vol.22 (1), p.17-30

2023

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Effect of allergic bronchopulmonary aspergillosis on FEV 1 in children and adolescents with cystic fibrosis: a European Cystic Fibrosis Society Patient Registry analysis

Archives of disease in childhood, 2017-08, Vol.102 (8), p.742-747

2017

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Characteristics of patients with cystic fibrosis-dependent diabetes mellitus in childhood according to the register of patients with cystic fibrosis of the Russian Federation in 2021

Sakharnyĭ diabet, 2023-11, Vol.26 (5), p.418-426

2023

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Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study

Journal of cystic fibrosis, 2024-09, Vol.23 (5), p.815-822

2024

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Standards of care for patients with cystic fibrosis: a European consensus

Journal of cystic fibrosis, 2005-03, Vol.4 (1), p.7-26

2005

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Clinical Presentation of the c.3844TC Variant in Russian Cystic Fibrosis Patients

Genes, 2020-10, Vol.11 (10), p.1

2020

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High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients

Cystic Fibrosis Mortality in Childhood. Data from European Cystic Fibrosis Society Patient Registry

Comprehensive Assessment of CFTR Modulators' Therapeutic Efficiency for N1303K Variant

Burkholderia cepacia in cystic fibrosis children and adolescents: overall survival and immune alterations

Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation

Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients

Advances in the Study of Common and Rare CFTR Complex Alleles Using Intestinal Organoids

Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients

Tu1299 International Prospective Study of Distal Intestinal Obstruction Syndrome (DIOS)

Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening-Towards a Consistent Definition and Data Acquisition

Newborn Screening for Cystic Fibrosis in Russia: A Catalyst for Improved Care

Contribution of pancreatic enzyme replacement therapy to survival and quality of life in patients with pancreatic exocrine insufficiency

Clinical Efficacy and Safety of Ivacaftor/Lumacaftor Combination in Patients with Cystic Fibrosis: International Studies Review

Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients: L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients

Comprehensive Assessment of ICFTR/I Modulators’ Therapeutic Efficiency for N1303K Variant

Serum bile acids in cystic fibrosis patients – glycodeoxycholic acid as a potential marker of liver disease

Advances in the Study of Common and Rare ICFTR/I Complex Alleles Using Intestinal Organoids

Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis

Effect of allergic bronchopulmonary aspergillosis on FEV 1 in children and adolescents with cystic fibrosis: a European Cystic Fibrosis Society Patient Registry analysis

Characteristics of patients with cystic fibrosis-dependent diabetes mellitus in childhood according to the register of patients with cystic fibrosis of the Russian Federation in 2021

Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study

Standards of care for patients with cystic fibrosis: a European consensus

Clinical Presentation of the c.3844TC Variant in Russian Cystic Fibrosis Patients

The Lancet Respiratory Medicine Commission on the Future of Care of Cystic Fibrosis

Comparison of biosimilar Tigerase and Pulmozyme in long-term symptomatic therapy of patients with cystic fibrosis and severe pulmonary impairment (subgroup analysis of a Phase III randomized open-label clinical trial (NCT04468100))

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