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| Issue |
Title |
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| Vol 24, No 6 (2025) |
Development and characterization of a unified in vitro model system for comparative analysis of the GJB2 gene variants associated with hearing loss |
Abstract
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E. A. Maslova, O. L. Posukh, K. E. Orishchenko |
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| Vol 24, No 6 (2025) |
Modern diagnostic strategy for hereditary systemic skeletal dysplasias |
Abstract
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T. V. Markova, D. V. Gorodilova, V. M. Kenis, E. V. Melchenko, T. S. Nagornova, O. P. Ryzhkova, E. Yu. Zakharova, E. L. Dadali, S. I. Kutsev |
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| Vol 24, No 6 (2025) |
Clinical and genetic characteristics of osteogenesis imperfecta |
Abstract
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E. S. Merkuryeva, T. S. Nagornova, O. P. Ryzhkova, V. M. Kenis, Y. V. Buklemishev, E. Yu. Zakharova, E. L. Dadali, T. V. Markova |
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| Vol 24, No 6 (2025) |
Genetic factors of familial hypercholesterolemia variability |
Abstract
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A. N. Meshkov, M. Zaicenoka, V. I. Mikhailina, A. I. Ershova, A. V. Kiseleva, V. E. Ramensky, O. M. Drapkina |
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| Vol 24, No 6 (2025) |
Screening of newborns for SMA in the Krasnodar region. First results |
Abstract
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L. V. Zinchenko, S. Yu. Pseush, P. D. Lashevich, S. A. Matulevich, M. V. Senkina, E. A. Brovko |
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| Vol 24, No 6 (2025) |
Epigenetic stem cell index as a prognostic marker in breast cancer |
Abstract
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A. I. Kalinkin, V. O. Sigin, A. F. Nikolaeva, M. K. Ibragimova, M. M. Tsyganov, A. N. Demko, M. V. Shomova, L. E. Silantyeva, I. I. Vinogradov, N. V. Litvyakov, V. V. Strelnikov |
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| Vol 24, No 6 (2025) |
Cryo-electron microscopy of plasma extracellular vesicles in lysosomal storage diseases |
Abstract
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A. E. Kopytova, A. D. Izyumchenko, L. А. Garaeva, A. V. Artynyuk, V. A. Bezrukikh, E. B. Pichkur, A. L. Konevega, T. A. Shtam, S. N. Pchelina |
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| Vol 24, No 6 (2025) |
Influence of polygenic risk of schizophrenia on social functioning indicators in patients with schizophrenia and schizophrenia spectrum disorders |
Abstract
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T. V. Lezheiko, N. V. Kondratyev, V. E. Golimbet |
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| Vol 24, No 6 (2025) |
Application of molecular genetics methods in the diagnosis of severe hypertriglyceridemia |
Abstract
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M. I. Krivosheina, K. A. Shtein, V. V. Bakaleiko, P. S. Sokolnikova, A. S. Alieva, A. Yu. Babenko, A. A. Kostareva |
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| Vol 24, No 6 (2025) |
Fractures in the structure of rare hereditary pathology – gnathodiaphyseal dysplasia and Grange syndrome |
Abstract
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A. A. Kudakaeva, I. S. Dantsev, R. G. Kuramagomedova, V. Y. Voinova |
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| Vol 24, No 6 (2025) |
The level of cytokines TNFα, IL-6 and mRNA of the TNFA, IL6 genes in peripheral blood as a marker of transformation of liver steatosis into steatohepatitis in non-alcoholic fatty liver disease |
Abstract
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I. V. Kurbatova, L. V. Topchieva, O. P. Dudanova, A. A. Shipovskaya |
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| Vol 24, No 6 (2025) |
Prevalence and genetic profile of multiple epiphyseal dysplasia in russian patient cohort |
Abstract
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D. V. Gorodilova, V. M. Kenis, E. V. Melchenko, O. A. Schagina, M. D. Orlova, O. P. Ryzhkova, I. P. Nikishina, E. L. Dadali, T. V. Markova |
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| Vol 24, No 6 (2025) |
Hallmarks of clinical interpretation of single-gene CNVs |
Abstract
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A. A. Kashevarova, I. N. Lebedev |
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| Vol 24, No 6 (2025) |
BRCA1 methylation impacts on the prognosis of patients with high-grade serous ovarian cancer |
Abstract
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T. V. Kekeeva, A. S. Tanas, D. V. Zaletaev, V. V. Strelnikov |
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| Vol 24, No 6 (2025) |
Prognostic significance of X-сhromosome inactivation in female carriers of EDA mutations |
Abstract
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V. A. Kovalskaia, T. B. Cherevatova, E. V. Zinina, A. A. Stepanova, O. A. Schagina, A. V. Polyakov, O. P. Ryzhkova |
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| Vol 24, No 6 (2025) |
Rare subtypes of diabetes mellitus MODY: Analysis of the registry of monogenic diabetes mellitus in children |
Abstract
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M. P. Koltakova, E. A. Sechko, T. L. Kuraeva, I. A. Eremina, D. N. Laptev, O. B. Bezlepkina, V. A. Peterkova |
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| Vol 24, No 6 (2025) |
Effect of a pharmacological chaperone glucocerebrosidase on enzyme activity in mouse brain |
Abstract
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A. O. Lavrinova, E. A. Demidova, V. N. Pidyurchina, A. I. Bezrukova, E. V. Sergeeva, V. V. Kvanchiani, G. V. Baidakova, E. Y. Zakharova, A. K. Emelyanov, S. N. Pchelina |
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| Vol 24, No 6 (2025) |
Study of gene polymorphisms of the vitamin D system in patients with multiple sclerosis |
Abstract
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T. I. Egorova |
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| Vol 24, No 6 (2025) |
Clinical case of the new variant in the COL1A1 gene in the family with osteogenesis imperfecta type I |
Abstract
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I. Zh. Zhalsanova, E. A. Fonova, A. A. Zarubin, V. V. Petrova, A. A. Agafonova, G. N. Seitova, N. N. Chekanov, N. A. Skryabin |
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| Vol 24, No 6 (2025) |
Polygenic risk score development and their application for differential diagnostics of lipid disorders |
Abstract
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M. Zaicenoka, A. N. Meshkov, A. V. Kiseleva, A. I. Ershova, V. E. Ramensky, O. M. Drapkina |
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| Vol 24, No 6 (2025) |
Effect of genetic polymorphism of interleukin production on the association of adverse childhood experiences with cognitive functions in schizophrenia |
Abstract
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M. V. Alfimova, M. V. Gabaeva, T. V. Lezheiko, V. V. Plakunova, V. E. Golimbet |
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| Vol 24, No 6 (2025) |
Analysis of rs113488022 polymorphism of the BRAF gene in women from the Republic of Bashkortostan |
Abstract
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E. A. Andreeva, E. T. Aminova, Y. V. Valova, A. R. Romanova, R. R. Faiskhanova, I. R. Zagitov, Y. V. Babushkin, E. K. Khusnutdinova, D. S. Prokofyeva |
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| Vol 24, No 6 (2025) |
Clastogenic effect of nitrogen tetraoxide in acute inhalation poisoning |
Abstract
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L. G. Arzhavkina, T. V. Kharchenko, A. V. Bolekhan, E. G. Bogdanova |
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| Vol 24, No 6 (2025) |
Netherton syndrome: interdisciplinary approach by dermatologists, immunologists and geneticists |
Abstract
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A. M. Bobreshova, V. I. Burlakov, Yu. A. Rodina, O. R. Lenina, M. S. Fadeeva, D. Е. Pershin, O. S. Selezneva, A. A. Mukhina, S. A. Pankratova, R. A. Zinchenko, A. Shcherbina, A. V. Marakhonov |
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| Vol 24, No 6 (2025) |
Spectrum of secondary findings in the DNA samples from the NMRC TPM biobank |
Abstract
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A. A. Bukaeva, M. Zaicenoka, A. V. Kiseleva, A. I. Ershova, O. D. Drapkina, A. N. Meshkov |
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| Vol 24, No 6 (2025) |
The role of antioxidant system and DNA repair genes polymorphic variants in breast cancer development in women |
Abstract
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V. Yu. Buslaev, V. I. Minina, R. A. Titov, M. L. Bakanova, N. A. Gavrineva, A. N. Glushkov |
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| Vol 24, No 6 (2025) |
Analysis of mutations in EGFR, PIK3CA, BRAF, KRAS genes in patients with small cell lung cancer |
Abstract
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A. R. Vafina, G. F. Gimalova, L. N. Lyubchenko, E. K. Khusnutdinova |
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| Vol 24, No 6 (2025) |
A new look at known syndromes: Angelman-Rett-like phenotype, interpretation of genetic testing results |
Abstract
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S. V. Golubeva, E. G. Trebka |
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| Vol 24, No 6 (2025) |
Analysis of the mutation frequency in isolated and syndromal forms of PIK3CA-associated overgrowth |
Abstract
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A. S. Abuzova, J. S. Zharnakova, J. O. Binnatova, E. N. Imyanitov |
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| Vol 24, No 4 (2025) |
Effect of the functional polymorphic variant rs6295 of the HTR1A gene on the efficacy and safety of sertraline in patients with mixed anxiety-depressive disorder |
Abstract
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A. I. Gareeva, L. S. Borodina, E. G. Mikhailova, S. А. Pozdnyakov, I. F. Timerbulatov |
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| Vol 24, No 4 (2025) |
Clinical and genetic characteristics of leukodystrophies in Yakutia |
Abstract
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P. I. Golikova, A. L. Sukhomyasova, E. E. Gurinova, I. А. Nikolaeva, R. N. Ivanova, V. M. Sofronova, A. E. Yakovleva, G. D. Moskvitin, N. R. Maksimova |
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| Vol 24, No 4 (2025) |
First results of neonatal screening for congenital hypothyroidism during the transition to early blood sampling in newborns |
Abstract
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T. A. Golikhina, E. O. Shumlivaya, S. A. Matulevich |
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| Vol 24, No 4 (2025) |
Analysis of the effect on splicing of the SLC26A4 gene variants identified in patients with hearing loss from the Republics of Tyva and Altai (Southern Siberia) |
Abstract
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V. Yu. Danilchenko, E. A. Panina, M. V. Zytzar, K. E. Orishchenko, O. L. Posukh |
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| Vol 24, No 4 (2025) |
Bacterial genotoxins in action: linking microbiota composition to clastogenic effects in human blood leukocytes |
Abstract
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V. G. Druzhinin, E. D. Baranova |
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| Vol 24, No 4 (2025) |
The use of the method of isonymy in the population-genetic study of the Russian regions |
Abstract
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G. I. Еl’chinova, Yu. A. Rеvаzоvа, R. A. Zinchеnkо |
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| Vol 24, No 4 (2025) |
Optimization of the galactosemia screening algorithm |
Abstract
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A. V. Ershova, A. Y. Lobenskaya |
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| Vol 24, No 4 (2025) |
Loci associated with arterial hypertension as genetic markers of peripheral artery disease |
Abstract
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S. N. Zhabin, V. A. Lazarenko, Iu. E. Azarova, M. A. Solodilova, A. V. Polonikov |
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| Vol 24, No 4 (2025) |
Analysis of generic pesticide mutagenicity in assessing their equivalence to original products |
Abstract
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N. A. Ilyushina, O. V. Egorova, Y. V. Revazova |
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| Vol 24, No 4 (2025) |
Analysis of polymorphic variants of the VDR and GC genes in the population of tomsk siberian tatars |
Abstract
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D. O. Imekina, B. A. Tkhorenko, M. V. Ulyanova, M. B. Lavryashina |
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| Vol 24, No 4 (2025) |
Points of the molecular pathogenesis of hypertrophic cardiomyopathy associated with TRIM63 mutations |
Abstract
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E. S. Klimenko, S. E. Andreeva, E. G. Nikitina, A. A. Kostareva |
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| Vol 24, No 4 (2025) |
Differential expression of non-coding RNAs in patients with сhronic obstructive pulmonary disease |
Abstract
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V. A. Markelov, L. Z. Akhmadishina, T. R. Nasibullin, Y. G. Aznabaeva, O. V. Kochetova, G. F. Korytina |
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| Vol 24, No 4 (2025) |
Enzyme replacement therapy in patients with сlassic phenylketonuria according to data from clinical register of PKU |
Abstract
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E. A. Shestopalova, R. A. Zinchenko, T. V. Bushueva, I. A. Kuzmicheva, L. N. Kolbasin, S. I. Kutsev |
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| Vol 24, No 4 (2025) |
Epidemiological aspects of obesity-associated polymorphisms among children and adolescents in Yakutia |
Abstract
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D. A. Vasileva, A. I. Fedorov, U. M. Lebedeva, L. R. Zhozhikov, A. M. Lebedeva, N. R. Maximova |
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| Vol 24, No 4 (2025) |
Genetic aspects of acute cerebrovascular accident in severe preeclampsia in the Kazakh population |
Abstract
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G. M. Berezina, G. S. Svyatova, A. V. Murtazalieva |
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| Vol 24, No 4 (2025) |
Association analysis of polymorphisms in IKZF3, HLA-G and VDR genes with allergic diseases |
Abstract
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A. O. Vlasova, A. S. Karunas, O. N. Savelieva, I. А. Ishmeeva, E. K. Khusnutdinova |
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| Vol 24, No 4 (2025) |
The role of alternative splicing in the fetal growth restriction pathogenesis |
Abstract
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M. M. Gavrilenko, A. A. Babovskaya, A. A. Zarubin, E. А. Trifonova, E. V. Izhoykina, V. A. Stepanov |
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| Vol 24, No 4 (2025) |
Study of the effect of chemical bacterial cell proteome using Lux biosensors |
Abstract
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S. K. Abilev, S. V. Smirnova, A. G. Kurkieva |
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| Vol 24, No 4 (2025) |
X-linked Alport syndrome with diffuse leiomyomatosis |
Abstract
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M. E. Aksenova, N. M. Zaikova, N. A. Alekseeva |
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| Vol 24, No 4 (2025) |
Analysis of the expression of long non-coding RNAs in HPV infection |
Abstract
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N. V. Afonina, E. V. Mashkina |
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| Vol 24, No 4 (2025) |
The experience of conducting the confirmation stage of the NBS at SMA 5q in the reference center in 2023–2024 |
Abstract
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M. A. Akhkiamova, A. V. Marakhonov, A. V. Polyakov, S. V. Voronin, S. I. Kutsev, K. A. Mikhalchuk, S. I. Braslavskaya, A. L. Chukhrova, N. V. Ryadninskaya, O. A. Shchagina |
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