35 years of the scientific and clinical department of cystic fibrosis of the Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”

   In 2025, the Scientific and Clinical Department of Cystic Fibrosis of the Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics” of the Ministry of Science and Higher Education of the Russian Federation celebrates its 35th anniversary.

   The aim of this publication was to demonstrate various areas of research conducted by specialists of the Cystic Fibrosis Department over the past 5 years, and some of their results.

   Results. Over 5 years, the research findings have been presented and published in 150 articles, 4 monographs, 3 national guidelines, 4 clinical guidelines, 6 candidate theses, and 1 doctoral thesis.

   Conclusion. The main achievements in organizing medical care for patients with CF and other orphan diseases in the Russian Federation were demonstrated.

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2. Kondratyeva E., Melyanovskaya Y., Sherman V. et al. Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation. Front. Genet. 2024; 15: 1383033. DOI: 10.3389/fgene.2024.1383033.

3. Kondratyeva E.I., Krasovskiy S.A., Starinova M.A. et al., eds. [Registry of patients with cystic fibrosis in the Russian Federation. 2020]. Moscow: Medpraktika-M; 2022. Available at: https://api.med-gen.ru/site/assets/files/51107/site_registre_2020.pdf (in Russian).

4. Krasovskiy S.A., Starinova M.A., Voronkova A.Yu. et al. (eds.). [Registry of patients with cystic fibrosis in the Russian Federation. 2021]. St. Petersburg: Blagotvoritel’nyy fond “Ostrova”; 2023. Available at: https://mukoviscidoz.org/doc/registr/registr_systicfibrosis_brochure_19_10.pdf (in Russian).

5. Voronkova A.Yu., Amelina E.L., Kashirskaya N.Yu. et al. (eds.). [Registry of patients with cystic fibrosis in the Russian Federation. 2022]. Moscow: Medpraktika-M; 2024. Available at: https://mukoviscidoz.org/doc/registr/_Registre_2022.pdf (in Russian).

6. ECFSPR Annual Data Report 2020. Orenti A., Zolin A., Jung A. et al. ECFSPR patient registry. European Cystic Fibrosis Society: Denmark, Karup; 2022. Available at: https://www.ecfs.eu/sites/default/files/ECFSPR_Report_2020_v1.0%20%2807Jun2022%29_website.pdf

7. Voronkova A.Yu., Melyanovskaya Yu.L., Petrova N.V. et al. [Clinical and genetic characteristics of rare pathogenic variants in the CFTR gene in Russian patients with cystic fibrosis]. Pul’monologiya. 2021; 31 (2): 148–158. DOI: 10.18093/0869-0189-2021-31-2-148-158 (in Russian).

8. Efremova A.S., Melyanovskaya Yu.L., Bulatenko N.V. et al. [Description of rare alleles of the CFTR gene in cystic fibrosis using functional tests and the forskolin test on rectal organoids]. Pul’monologiya. 2021; 31 (2): 178–188. DOI: 10.18093/0869-0189-2021-31-2-178-188 (in Russian).

9. Kondratyeva E.I., Melyanovskaya Yu.L., Efremova A.S. et al. [Clinical and genetic features of cystic fibrosis patients with novel pathogenic variant CFTR c.1083G> A (p.Trp361*) and functional assessment of the activity of the chloride channel]. Meditsinskaya genetika. 2019; 18 (9): 9–18. DOI: 10.25557/2073-7998.2019.09.9-18 (in Russian).

10. Kondratyeva E.I., Melyanovskaya Yu.L., Petrova N.V. et al. [Clinical and genetic characteristics of patients with cystic fibrosis and functional assessment of the chloride channel with the newly described pathogenic variant D579Y (C.1735G>T)]. Meditsinskiy vestnik Severnogo Kavkaza. 2020; 15 (2): 166–169. DOI: 10.14300/mnnc.2020.15040 (in Russian).

11. Kondratyeva E., Efremova A., Melyanovskaya Y. et al. Clinical and genetic characterization of patients with cystic fibrosis and functional assessment of the chloride channel with the pathogenic variant c.831G>A (p.Trp277*), described for the first time. Gene. 2020; 761: 145023. DOI: 10.1016/j.gene.2020.145023.

12. Kondratyeva E.I., Krasnova M.G., Melyanovskaya Yu.L. et al. [Study of a rare variant of the CFTR gene c.1329_1350del in a homozygous state in a child with cystic fibrosis using functional tests]. Meditsinskaya genetika. 2024; 23 (1): 60–68. DOI: 10.25557/2073-7998.2024.01.60-68 (in Russian).

13. Melyanovskaya Yu.L., Kondratyeva E.I. [The first described pathogenic variant c.2617G>T of the CFTR gene]. Arkhiv pediatrii i detskoy khirurgii. 2024; 2 (1): 142–147. DOI: 10.31146/2949-4664-apps-2-1-142-147 (in Russian).

14. Kondratyeva E., Melyanovskaya Y., Efremova A. et al. Clinical and genetic characteristics of a patient with cystic fibrosis with a complex allele [E217G; G509D] and functional evaluation of the CFTR channel. Genes. 2023; 14: 1705. DOI: 10.3390/genes14091705.

15. Kondratyeva E., Bulatenko N., Melyanovskaya Y. et al. Personalized selection of a CFTR modulator for a patient with a complex allele [L467F; F508del]. Curr. Issues Mol. Biol. 2022, 44: 5126–5138. DOI: 10.3390/cimb44100349.

16. Kondratyeva E.I., Odinaeva N.D., Sherman V.D. et al. [A clinical case of cystic fibrosis patient with pathogenic N1303K genotype variant with assessment of the CFTR channel function by intestinal current measurement and forskolin-induced swelling in rectal organoids]. Al’manakh klinicheskoy meditsiny. 2021; 49 (3): 219–225. DOI: 10.18786/2072-0505-2021-49-019 (in Russian).

17. Kondratyeva E.I., Melyanovskaya Yu.L., Efremova A.S. et al. [Experience in using methods for assessing the functionality of the CFTR anion channel in patients with established and presumptive diagnosis of cystic fibrosis]. Sibirskoe meditsinskoe obozrenie. 2019; 116 (2): 60–69. DOI: 10.20333/2500136-2019-2-60-69 (in Russian).

18. Shadrina V.V., Melyanovskaya Yu.L., Furman E.G. [Phenotypic manifestations of the CFTR gene variant c.3140-16T>A (3272-16T>A) in a homozygous state in a child with cystic fibrosis]. Voprosy prakticheskoy pediatrii. 2022; 17 (3): 109–112. DOI: 10.20953/1817-7646-2022-3-109-112 (in Russian).

19. Kondratyeva E.I., Voronkova A.Yu., Efremova A.S. et al. [Health status of twins with the F508del/R334W genotype in cystic fibrosis and the possibilities of targeted therapy]. Voprosy prakticheskoy pediatrii. 2022; 17 (3): 74–82. DOI: 10.20953/1817-7646-2022-3-74-82 (in Russian).

20. Voronkova A.Yu., Bulatenko N.V., Melyanovskaya Yu.L. et al. [Selection of CFTR modulators for children – carriers of the W1282R genetic variant]. Voprosy prakticheskoy pediatrii. 2022; 17 (3): 83–91. DOI: 10.20953/1817-7646-2022-3-83-91 (in Russian).

21. Melyanovskaya Yu.L., Krasovskiy S.A., Efremova A.S. et al. [The course of the disease with an assessment of the chloride channel function and the selection of targeted therapy in vitro in an adult patient with cystic fibrosis with the 2184insA/L138ins genotype]. Meditsinskiy vestnik Severnogo Kavkaza. 2020; 15 (2): 170–174. DOI: 10.14300/mnnc.2020.15041 (in Russian).

22. Kondratyeva E., Efremova A., Melyanovskaya Y. et al. Evaluation of the complex p.[Leu467Phe;Phe508del] CFTR allele in the intestinal organoids model: implications for therapy. Int. J. Mol. Sci. 2022; 23 (18): 10377. DOI: 10.3390/ijms231810377.

23. Kondratyeva E., Bukharova T., Efremova A. et al. Health characteristics of patients with cystic fibrosis whose genotype includes a variant of the nucleotide sequence c.3140-16T>A and functional analysis of this variant. Genes (Basel). 2021; 12 (6): 837. DOI: 10.3390/genes12060837.

24. Krasnova M.G., Mokrousova D.O., Efremova A.S. et al. [Functional activity of the CFTR channel in a patient with the [L467F;F508del]/W1310X genotype]. Pul’monologiya. 2024; 34 (2): 264–270. DOI: 10.18093/0869-0189-2024-34-2-264-270 (in Russian).

25. Efremova A., Melyanovskaya Y., Krasnova M. et al. Estimation of chloride channel residual function and assessment of targeted drugs efficiency in the presence of a complex allele [L467F; F508del] in the CFTR gene. Int. J. Mol. Scie. 2024; 25 (19): 10424. DOI: 10.3390/ijms251910424.

26. Efremova A., Kashirskaya N., Krasovskiy S. et al. Comprehensive assessment of CFTR modulators’ therapeutic efficiency for N1303K variant. Int. J. Mol. Sci. 2024; 25 (5): 2770. DOI: 10.3390/ijms25052770.

27. Petrova N.V., Kashirskaya N.Y., Vasilyeva T.A. et al. High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients. BMC Genomics. 2022; 23 (1): 252. DOI: 10.1186/s12864-022-08466-z.

28. Melyanovskaya Yu.L. [Molecular epidemiology of cystic fibrosis in the Russian Federation and a comprehensive assessment of the pathogenetic role of CFTR gene variants based on the study of the function of epithelial ion channels (ENAC, CFTR, CACCS)]: Diss. Moscow; 2023 (in Russian).

29. Kass R.S. The channelopathies: novel insights into molecular and genetic mechanisms of human disease. J. Clin. Invest. 2005; 115 (8): 1986–1989. DOI: 10.1172/JCI26011.

30. Ministry of Health of the Russian Federation. [Clinical guidelines: Сystic fibrosis]. 2021. Available at: https://cr.minzdrav.gov.ru/viewcr/372_2 (in Russian).

31. The Union of Pediatricians of Russia [Targeted therapy of cystic fibrosis (mucoviscidosis): Methodological guidelines]. 2023. Available at: https://www.pediatr-russia.ru/information/events/program/Таргетная_терапия_МВ_методреком_2023_compressed.pdf (in Russian).

32. Kondratyeva E., Melyanovskaya Y., Bulatenko N. et al. Clinical and functional characteristics of the E92K CFTR Gene variant in the Russian and Turkish population of people with cystic fibrosis. Int. J. Mol. Sci. 2023; 24 (7): 6351. DOI: 10.3390/ijms24076351.

33. Efremova A.S., Sherman V.D., Melyanovskaya Yu.L. et al. [Study of CFTR channel functional activity in a patient with cystic fibrosis and E92K/4428insGA genotype]. Voprosy detskoy dietologii. 2022; 20 (5): 72–79. DOI: 10.20953/1727-5784-2022-5-72-79 (in Russian).

34. Krasnova M.G., Melyanovskaya Yu.L., Krasovskiy S.A. et al. [Description of the clinical picture and assessment of the functional activity of the CFTR channel in a patient with a complex allele [S466X; R1070Q]]. Pul’monologiya. 2023; 33 (2): 233–242. DOI: 10.18093/0869-0189-2023-33-2-233-242 (in Russian).

35. Kondratyeva E.I., Amelinа E.L., Chernukha M.Yu. et al. [Review of clinical guidelines “Cystic fibrosis”, 2020]. Pul’monologiya. 2021; 31 (2): 135–146. DOI: 10.18093/0869-0189-2021-31-2-135-146 (in Russian).

36. Furman E.G., Shadrina V.V., Maksimycheva T.Yu. et al. [Cost of therapy for patients with cystic fibrosis in different age groups, taking into account respiratory tract infection and complications]. Pul’monologiya. 2021; 31 (2): 238–249. DOI: 10.18093/0869-0189-2021-31-2-238-249 (in Russian).

37. Kutsev S.I., Izhevskaya V.L., Kondratyeva E.I. [Targeted therapy for cystic fibrosis]. Pul’monologiya. 2021; 31 (2): 226–236. DOI: 10.18093/0869-0189-2021-31-2-226-236 (in Russian).

38. Kondratyeva E.I., Odinaeva N.D., Pasnova E.V. et al. [Efficacy and safety of triple therapy (elecaftor/tezacaftor/ivacaftor) in children with cystic fibrosis: 12-month follow-up]. Pul’monologiya. 2024; 34 (2): 218–224. DOI: 10.18093/0869-0189-2024-34-2-218-224 (in Russian).

39. Kondratyeva E.I., Odinaeva N.D., Sherman V.D. et al. [First results of treatment with two CFTR-modulators for cystic fibrosis in childhood]. Pediatriya imeni G.N.Speranskogo. 2022; 101 (3): 98–105. DOI: 10.24110/0031-403X-2022-101-3-98-105 (in Russian).

40. Kondratyeva E.I., Shadrina V.V., Furman E.G. et al. [Estimation of possibility of application of Tigerase® (Dornase alfa) drug on the results of a multicenter scientific program of post marketing use of the drug]. Pediatriya imeni G.N.Speranskogo. 2021; 100 (3): 218–226. Available at: https://pediatriajournal.ru/archive?show=382&section=6227&ysclid=m8d5n28trz295951755 (in Russian).

41. Shadrina V.V., Kondratyeva E.I., Voronkova A.Yu. et al. [Results of a prospective open observational study of the use of dornase alfa as part of combination therapy in patients with cystic fibrosis]. Pul’monologiya. 2024; 34 (2): 206–217. DOI: 10.18093/0869-0189-2024-34-2-206-217 (in Russian).

42. Shadrina V.V., Zhekaite E.K., Voronkova A.Yu. et al. [Tolerability of the first dose of inhaled mannitol in children with cystic fibrosis]. Pul’monologiya. 2024; 34 (4): 515–521. DOI: 10.18093/0869-0189-2024-34-4-515-521 (in Russian).

43. Kondratyeva E.I., Voronkova A.Yu., Trishina S.V. et al. [Study of efficacy, safety, and patient satisfaction with inhaled tobramycin (Tobramycin-Gobbi) in children with cystic fibrosis and pseudomonas infection]. Pul’monologiya. 2021; 31 (2): 197–206. DOI: 10.18093/0869-0189-2021-31-2-197-206 (in Russian).

44. Polyakov D.P., Daykhes N.A., Yunusov A.S. et al. [Rhinosinus surgery in children with cystic fibrosis. Golova i sheya. 2021; 9 (1): 35–44. Available at: https://hnj.science/wp-content/uploads/2021/09/Rhinosinusosurgery-in-children-with-cystic-fibrosis.pdf (in Russian).

45. Maksimycheva T.Yu., Kondratyeva E.I., Voronkova A.Yu., Budzinsky R.M. [The fulminant form of pseudomembranous colitis in a child with cystic fibrosis]. Arkhiv pediatrii i detskoy khirurgii. 2023; 1 (2): 40–52. DOI: 10.31146/2949-4664-apps-2-2-40-52 (in Russian).

46. Maksimycheva T.Yu., Kondratyeva E.I., Zhekaite E.K. et al. [Effect of specialized enteral nutrition enriched with probiotics on the nutritional status and intestinal microbiocenosis in children with cystic fibrosis]. Voprosy detskoy dietologii. 2024; 22 (3): 20–28. DOI: 10.20953/1727-5784-2024-3-20-28 (in Russian).

47. Maksimycheva T.Yu., Kondratyeva E.I., Tlif A.I., Basova A.V. [Experience of correction of enzyme therapy in children with cystic fibrosis using computer systems and network communication tools]. Arkhiv pediatrii i detskoy khirurgii. 2023; 1 (2): 116–124. DOI: 10.31146/2949-4664-apps-2-2-116-124 (in Russian).

48. Maksimycheva T.Yu., Krysanov I.S., Kurkin D.V. et al. [Enteral formulas for nutritional support of patients with cystic fibrosis]. Arkhiv pediatrii i detskoy khirurgii. 2024; 2 (1): 208–215. DOI: 10.31146/2949-4664-apps-2-1-208-215 (in Russian).

49. Kondratyeva E.I., Tlif A.I., Voronkova A.Yu. et al. [Characteristics of patients with cystic fibrosis-dependent diabetes mellitus in childhood according to the 2021 registry of patients with cystic fibrosis of the Russian Federation]. Sakharnyy diabet. 2023; 26 (5): 418–426. DOI: 10.14341/DM13064 (in Russian).

50. Tlif A.I., Voronkova A.Yu., Kuraeva T.L., Kondratyeva E.I. [Indices of carbohydrate metabolism in school-aged children with cystic fibrosis]. Voprosy detskoy dietologii. 2024; 22 (6): 16–24. DOI: 10.20953/1727-5784-2024-6-16-24 (in Russian).

51. Tlif A.I., Voronkova A.Yu., Odinaeva N.D. et al. [Effect of targeted therapy on the course of cystic fibrosis-related diabetes mellitus in children]. Voprosy prakticheskoy pediatrii. 2024; 19 (6): 129–136. Available at: https://www.phdynasty.ru/upload/medialibrary/a12/3yl3pnapftwbevzdc4jm6cyqvwdaewt2.pdf (in Russian).

52. Kondratyeva E.I., Zakharova I.N., Ilyenkova N.A. et al. Vitamin D status in Russian children and adolescents: contribution of genetic and exogenous factors. Front. Pediatr. 2020; 8: 583206. DOI: 10.3389/fped.2020.583206.

53. Zhekaite E.K., Klimov L.Ya., Dolbnya S.V. et al. [Activity of the antimicrobial peptide in children with cystic fibrosis]. Meditsinskiy vestnik Severnogo Kavkaza. 2020; 15 (2): 195–200. DOI: 10.14300/mnnc.2020.15047 (in Russian).

54. Kondratyeva E.I., Loshkova E.V., Zakharova I.N. et al. [Assessment of vitamin D status of children in Moscow and the Moscow region]. Rossiyskiy vestnik perinatologii i pediatrii. 2021; 66 (2): 78–84. DOI: 10.21508/1027-4065-2021-66-2-78-84 (in Russian).

55. Zhekaite E.K., Odinaeva N.D., Voronkova A.Yu. et al. [Diagnosis and prevention of osteoporosis in children with cystic fibrosis]. Pul’monologiya. 2024; 34 (2): 289–294. DOI: 10.18093/0869-0189-2024-34-2-289-294 (in Russian).

56. Zhekaite E.K., Kondratyeva E.I., Loshkova E.V. et al. [Decline in bone mineral density in children]. Voprosy prakticheskoy pediatrii. 2023; 18 (1): 111–123. DOI: 10.20953/1817-7646-2023-1-111-123 (in Russian).

57. Kondratyeva E.I., Ilyenkova N.A., Chikunov V.V. et al. [Health status of cystic fibrosis patients with liver cirrhosis and after liver transplantation]. Voprosy prakticheskoy pediatrii. 2022; 17 (3): 65–73. DOI: 10.20953/1817-7646-2022-3-65-73 (in Russian).

58. Burmistrov E.M., Krasnoslobodtsev K.G., Avetisyan L.R. et al. [Mixed bacterial-viral lung infections in patients with cystic fibrosis]. Pul’monologiya. 2023; 33 (4): 488–496. DOI: 10.18093/0869-0189-2023-33-4-488-496 (in Russian).

59. Avetisyan L.R., Chernukha M.Yu., Zhukhovitsky V.G. et al. [Microbiological monitoring of chronic lung infection caused by Achromobacter spp. in patients with cystic fibrosis]. Voprosy prakticheskoy pediatrii. 2022; 17 (3): 26–32. DOI: 10.20953/1817-7646-2022-3-26-32 (in Russian).

60. Avetisyan L.R., Shaginyan I.A., Chernukha M.Yu. et al. [Directions of epidemiological surveillance of chronic lung infections caused by Burkholderia cepacia complex, Achromobacter spp., Pseudomonas aeruginosa and methicillin-resistant Staphylococcus aureus in patients with cystic fibrosis]. Epidemiologiya i vaktsinoprofilaktika. 2020; 19 (1): 14–23. DOI: 10.31631/2073-3046-2020-19-1-14-23 (in Russian).

61. Avetisyan L.R., Chernukha O.S., Shaginyan I.A. et al. [Epidemiological and microbiological features of chronic lung infection in patients with cystic fibrosis caused by Staphylococcus aureus]. Pediatriya. 2020; 99 (2): 102–111. Available at: https://pediatriajournal.ru/archive?show=375&section=5848&ysclid=m8e6g6q05147429125 (in Russian).

62. Tronza T.V., Voronkova A.Yu., Fedotova N.Ya. et al. [Frequency of isolation and sensitivity of Staphylococcus aureus and Pseudomonas aeruginosa isolates from the lower respiratory tract in children with cystic fibrosis]. Infektsionnye bolezni: novosti, mneniya, obuchenie. 2023; (1): 62–68. DOI: 10.33029/2305-3496-2023-12-1-62-68 (in Russian).

63. Novoselova O.G., Kondratyeva E.I., Petrova N.V. et al. [The influence of polymorphism of genes of the first and second phase of xenobiotic biotransformation and genes involved in glutathione metabolism on the severity of cystic fibrosis and the risk of developing adverse reactions to antibacterial therapy]. Meditsinskaya genetika. 2020; 19 (10): 64–65. DOI: 10.25557/2073-7998.2020.10.64-65 (in Russian).

64. Kondakova Yu.A., Voronkova A.Yu., Zyryanov S.K., Bondareva I.B. [Pharmacokinetics of anti-bacterial preparations in cystic fibrosis in children]. Sibirskoe meditsinskoe obozrenie. 2019; (2): 5–13. DOI: 10.20333/2500136-2019-2-5-13 (in Russian).

65. Dronov I.A., Kondratyeva E.I., Voronkova A.Yu. et al. [Age peculiarities of pharmacotherapy with amoxicillin preparations in children with cystic fibrosis]. Pediatriya. 2019; 98 (4): 179–188. Available at: https://pediatriajournal.ru/archive?show=371&section=5629&ysclid=m8e6uq2b2m364245380 (in Russian).

66. Kondratyeva E.I., Kondakova Yu.A., Zyryanov S.K. et al. [Age-related features of ciprofloxacin pharmacokinetics in children with cystic fibrosis]. Klinicheskaya mikrobiologiya i antimikrobnaya khimioterapiya. 2019; 21 (Suppl. 1): 37. Available at: https://drive.google.com/file/d/1f7xMEfiU-en4INTwOmSl7se-agrDGe7p/view (in Russain).

67. Novoselova O.G., Kondratyeva E.I., Petrova N.V. et al. [Association of polymorphic variants of xenobiotic biotransformation genes and glutation metabolizing genes with clinical course of cystic fibrosis, antimicrobial therapy efficacy and adverse reactions]. Meditsinskaya genetika. 2020; 19 (10): 64–65. DOI: 10.25557/2073-7998.2020.10.64-65 (in Russian).

68. Skachkova T.S., Knyazeva E.V., Goloveshkina E.N. et al. [Quantitative determination of pseudomonas aeruginosa DNA in the secretions of the oropharyngeal mucosa of patients with cystic fibrosis using real-time polymerase chain reaction]. In: [Proceedings of scientific and practical conferences within the framework of the VIII Russian congress of laboratory medicine (RCLM 2022) : abstracts]. Moscow; 2022. Available at: https://www.elibrary.ru/item.asp?edn=bmpyjr&ysclid=m8e8f8pp1j481845960 (in Russian).

69. Skachkova T.S., Knyazeva E.V., Goloveshkina E.N. et al. [The prevalence of genetic determinants of antibiotic resistance, which are of particular epidemiological consequences, in the microbiota of the oropharyngeal swabs in patients with cystic fibrosis.]. Epidemiologiya i vaktsinoprofilaktika. 2023; 22 (4): 44–48. DOI: 10.31631/2073-3046-2023-22-4-44-48 (in Russian).

70. Kondratyeva E.I., Avdeev S.N., Mizernitsky Yu.L. et al. [Primary ciliary dyskinesia : review of the 2022 draft clinical guidelines]. Pul’monologiya. 2022; 32 (4): 517–538. DOI: 10.18093/0869-0189-2022-32-4-517-538 (in Russian).

71. Kiyan T.A., Smirnikhina S.A., Demchenko A.G. et al. [A new software for automated analysis of respiratory tract ciliary epithelium movement for the diagnosis of primary ciliary dyskinesia]. Pul’monologiya. 2024; 34 (2): 184–193. DOI: 10.18093/0869-0189-2024-34-2-184-193 (in Russian).

72. Nikolaeva E.D., Ovsyannikov D.Yu., Strelnikova V.A. et al. [Characteristics of patients with primary ciliary dyskinesia]. Pul’monologiya. 2023; 33 (2): 198–209. DOI: 10.18093/0869-0189-2023-33-2-198-209 (in Russian).

73. Kondratyeva E.I., Avdeev S.N., Kiyan T.A. et al. [Comparative characteristics of patients with primary ciliary dyskinesia with or without Kartagener syndrome]. Pul’monologiya. 2024; 34 (2): 194–205. DOI: 10.18093/0869-0189-2024-34-2-194-205 (in Russian).

74. Raidt J.H., Riepenhausen S., Pennekamp P. Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotypephenotype correlations. Eur. Respir. J. 2024; 64 (2): 2301769. DOI: 10.1183/13993003.01769-2023.

75. Lucas J.S., Davis S.D., Omran H., Shoemark A. Primary ciliary dyskinesia in the genomics age. Lancet Respir. Med. 2020; 8 (2): 202–216. DOI: 10.1016/S2213-2600(19)30374-1.

76. Kondratyeva E.I., Kiyan T.A., Popova V.M., Bragina E.E. [A clinical case of primary ciliary dyskinesia in a child under one year old with a pathogenic genetic variant of the DNAH5 gene described for the first time]. Arkhiv pediatrii i detskoy khirurgii. 2023; 1 (1): 78–87. DOI: 10.31146/2949-4664-apps-1-1-78-87 (in Russian).

77. Kyian T., Borovikov A., Anisimova I. et al. Expanding the genotypic and phenotypic spectrum of OFD1-related conditions: three more cases. Genes (Basel). 2024; 15 (12): 1633. DOI: 10.3390/genes15121633.

78. Kondratyeva E.I., Avdeev S.N., Kiyan T.A., Mizernitsky Yu.L. [Classification of primary ciliary dyskinesia]. Pul’monologiya. 2023; 33 (6): 731–738. DOI: 10.18093/0869-0189-2023-33-6-731-738 (in Russian).