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| Issue |
Title |
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| Vol 25, No 6 (2026) |
NIPT high-risk of trisomy 16 as a predictor of complicated pregnancy course |
Abstract
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M. T. Kaplanova, A. M. Galaktionova, A. A. Potapov, E. E. Baranova, O. V. Sagaydak, E. S. Kuznetsova, M. S. Belenikin, V. A. Gnetetskaya, I. S. Vlasov, A. S. Olenev |
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| Vol 25, No 6 (2026) |
Analysis of associations of IL4 (rs2243250), IL5 (rs2069812) and IL13 (rs1800925) gene polymorphisms with asthma severity in children |
Abstract
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S. Yu. Tereshchenko, A. G. Mileyko, N. N. Gorbacheva, M. V. Shubina, M. V. Smolnikova |
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| Vol 25, No 6 (2026) |
Analysis of Noonan syndrome cases detected in cohorts of patients with hearing loss |
Abstract
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A. M. Cherdonova, T. V. Borisova, F. M. Teryutin, V. G. Pshennikova, A. V. Solovyev, S. A. Fedorova, N. A. Barashkov |
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| Vol 25, No 5 (2026) |
Association of G1378T rs4961 variant of ADD1 gene with the risk of preeclampsia: a meta-analysis |
Abstract
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O. Y. Bordaeva, D. Alset, E. G. Derevyanchuk |
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| Vol 25, No 5 (2026) |
Very-long-chain fatty acid acyl-CoA dehydrogenase deficiency in Belarus |
Abstract
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A. A. Gusina, A. V. Zinovik, A. S. Stalybko, V. D. Kulak, I. N. Motjuk, Ju. N. Rushkevich, E. V. Malgina, L. V. Malchuk, N. B. Gusina |
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| Vol 25, No 5 (2026) |
A Study of the Marriage Structure in Populations of Azerbaijan and the Pamir: Medical and Genetic Aspects |
Abstract
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N. Кh. Spitsyna, N. V. Balinova |
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| Vol 25, No 4 (2026) |
Myotonic dystrophy type 2 in children |
Abstract
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A. A. Gusina, Ju. N. Rushkevich, E. V. Malgina, Ju. Z. Nikolaeva, M. I. Kolybenko, D. P. Marnikova, P. V. Belaya, N. V. Rumyanceva, I. V. Naumchik |
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| Vol 25, No 3 (2026) |
Characteristics of Russian patients with neuronal ceroid lipofuscinosis type 2: clinical symptoms, diagnosis and treatment |
Abstract
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S. V. Mikhaylova, M. M. Batazheva, M. V. Zazhivikhina, N. A. Votyakova, M. E. Abdullina, D. A. Reshchikov, R. Mai, Y. S. Itkis, E. Yu. Zakharova |
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| Vol 25, No 3 (2026) |
Micronucleus test parameters as biomarkers of genotoxicity in connection with individual variants of the GSTP1, GSTM1, GSTT1, NAT2, CYP1A1 genes in workers of coal-fired thermal power plants |
Abstract
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A. V. Marushchak, A. V. Torgunakova, R. A. Titov, O. A. Soboleva, V. I. Minina |
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| Vol 25, No 2 (2026) |
Genetic structure of partial gigantism syndromes and vascular malformations |
Abstract
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E. V. Bychkova, N. A. Semenova, G. B. Sagoyan, S. V. Alimov, A. E. Zhigulin, G. A. Somsikov, R. A. Khagurov, D. M. Guseva, I. V. Volodin, A. S. Smirnov, V. V. Strelnikov |
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| Vol 25, No 2 (2026) |
Wilson-Konovalov disease in pediatric practice: molecular genetic features, relationships between genotype and phenotype |
Abstract
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A. D. Komarova, K. V. Savostyanov, A. S. Potapov, A. A. Pushkov, D. S. Demyanov, A. P. Fisenko |
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| Vol 24, No 12 (2025) |
A rare form of familial aortic aneurysm: clinical case and features of medical and genetic counseling. |
Abstract
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E. V. Zaklyazminskaya, L. R. Dzik, M. S. Balashova, V. V. Aminov |
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| Vol 24, No 12 (2025) |
DNA methylation patterns in the long noncoding RNA NR2F1-AS1 gene region in ascending aortic aneurysm and atherosclerosis. |
Abstract
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S. A. Shipulina, I. A. Goncharova, A. A. Zarubin, D. S. Panfilov, B. N. Kozlov, M. S. Nazarenko |
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| Vol 24, No 12 (2025) |
Identification of heterozygous variants in the LPL and LMF1 genes in patients with 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 12 (2025) |
CREB3L3-Associated Hypertriglyceridemia: A Significant Contribution to the Spectrum of Monogenic Dyslipidemias in the Russian Population. |
Abstract
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E. A. Kurguzova, Ya. D. Mironova, O. N. Ivanova, U. V. Chubykina, I. V. Sergienko, T. M. Gurtziev, M. V. Ezhov, E. Yu. Zakharova, P. A. Vasiliev |
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| Vol 24, No 12 (2025) |
Skipping of exons 11 and 12 of the DMD gene for the treatment of Duchenne muscular dystrophy. |
Abstract
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E. V. Kurshakova, O. A. Levchenko, S. E. Nagieva, I. O. Panchuk, K. S. Kochergin-Nikitskiy, E. V. Kondrateva, O. V. Volodina, D. V. Vlodavets, O. P. Ryzhkova, V. A. Kovalskaya, S. A. Smirnikhina, A. V. Lavrov |
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| Vol 24, No 12 (2025) |
Heart transplantation in adult patients with Danon disease presenting with hypertrophic cardiomyopathy phenotype |
Abstract
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S. E. Andreeva, L. O. Korneva, M. A. Osipova, L. B. Mitrofanova, P. A. Fedotov, A. A. Kostareva, O. M. Moiseeva, M. A. Bortsova |
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| Vol 24, No 12 (2025) |
Clinical and Genetic Characteristics of Cardiomyopathy with Dilated Phenotype in 196 Russian Children: A Single-Center Study. |
Abstract
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Yu. S. Burykina, O. P. Zharova, L. A. Gandaeva, N. A. Sdvigova, E. N. Basargina, D. S. Demianov, A. A. Pushkov, K. V. Savostyanov |
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| Vol 24, No 12 (2025) |
Sarcomeric genes polymorphism in hypertrophic cardiomyopathy: association of genetic variants in TPM1 with echocardiographic parameters. |
Abstract
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N. R. Valiakhmetov, M. V. Golubenko, E. R. Shaidurova, R. R. Salakhov, A. A. Zarubin, M. S. Nazarenko |
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| Vol 24, No 12 (2025) |
Early manifestation of MyBPC3-associated hypertrophic cardiomyopathy in childhood: from genotype to phenotype. |
Abstract
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E. O. Kotelnikova, N. P. Kotlukova, N. D. Telezhnikova, E. V. Karelina, G. V. Revunenkov, M. S. Balashova, E. V. Zaklyazminskaya, S. L. Dzemeshkevich |
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| Vol 24, No 12 (2025) |
Characteristics of the p.Ser358Leu Variant in the TMEM43 Gene and Its Phenotypic Manifestations. |
Abstract
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N. N. Chakova, S. S. Niyazova, S. M. Komissarova, A. A. Efimova, N. M. Rineiska, T. V. Dolmatovich |
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| Vol 24, No 12 (2025) |
Clinical and Genetic Characteristics of Hypertrophic Cardiomyopathy in 206 Russian Children: A Single-Center Study. |
Abstract
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L. A. Gandaeva, Yu. I. Davydova, V. G. Kaverina, A. A. Pushkov, D. S. Demianov, Yu. S. Burykina, O. P. Zharova, I. V. Silnova, E. N. Basargina, K. V. Savostyanov |
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| Vol 24, No 7 (2025) |
Be vigilant! Type I tyrosinemia as a differential diagnosis in early liver disease |
Abstract
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A. S. Abuzova, S. A. Laptiev, E. V. Shilova, M. Yu. Tipikina, N. B. Ulanova, N. L. Volkova, M. O. Revnova, T. V. Kharchenko, D. O. Binnatova, P. R. Korzun, D. L. Strekalov, E. N. Imyanitov, E. N. Suspitsin |
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| Vol 24, No 7 (2025) |
Neural tube defects. Results of long-term epidemiological observation in the regions of the Russian Federation |
Abstract
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N. S. Demikova, A. N. Putintsev, D. A. Nikolsky, A. Yu. Asanov |
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| Vol 24, No 5 (2025) |
Assessment of the frequency of fibrodysplasia ossificans progressiva (FOP) in Russia |
Abstract
PDF (Rus)
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I. G. Sermyagina, O. A. Schagina, A. V. Polyakov |
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| Vol 24, No 3 (2025) |
Distribution of allele frequencies of the polymorphic locus of the FUT 2 gene (G772A, rs602662) in Siberian populations |
Abstract
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L. E. Tabikhanova, L. P. Osipova, T. V. Churkina, D. V. Lichman, E. N. Voronina, M. L. Filipenko |
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| Vol 24, No 3 (2025) |
Polymorphism of the APOΕ gene, rs7412 C>T (Arg158Cys) and rs429358 T>C (Cys112Arg), in indigenous populations of Eastern and Southern Siberia |
Abstract
PDF (Rus)
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R. P. Tiis, L. E. Tabikhanova, D. V. Lichman, E. N. Voronina, L. P. Osipova, M. L. Filipenko |
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| Vol 24, No 3 (2025) |
Hereditary diseases in the Mozdok region of the Republic of North Ossetia – Alania |
Abstract
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R. A. Zinchenko, I. S. Tebieva, V. V. Kadyshev, A. F. Murtazina, A. O. Borovikov, V. A. Galkina, A. V. Perepelov, A. V. Marakhonov, G. I. Elchinova, S. S. Amelina, Z. K. Getoeva, S. I. Kutsev |
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| Vol 24, No 3 (2025) |
Description of hematologic and molecular genetic features of beta-thalassemia in laboratory practice |
Abstract
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D. S. Slivinskiy, V. D. Nazarov, A. K. Musonova, D. V. Sidorenko, S. V. Lapin, A. V. Mazing, I. S. Moiseev, T. A. Bykova, A. A. Jakovenko, A. V. Vasiliev, D. G. Denisov |
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| Vol 24, No 2 (2025) |
Association of rs4986790 and rs4986791 polymorphisms of the TLR4 gene with the risk of developing acute respiratory viral diseases: a meta-analysis |
Abstract
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A.M.A. Al -Javadi, D. Alset, I. O. Pokudina, T. P. Shkurat |
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| Vol 24, No 2 (2025) |
Clinical and genetic characteristics of hepatolenticular degeneration in Primorsky Region |
Abstract
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E. V. Ovchinnikova, M. M. Garbuz, N. A. Schnayder, A. A. Ovchinnikova, V. V. Kumeiko, R. F. Nasyrova |
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| Vol 24, No 1 (2025) |
Association of polymorphisms of microRNA genes MIR146A (rs2910164), MIR758 (rs1885068), MIR33a (rs9620000) with melanoma |
Abstract
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Yu. Yu. Stefanova, N. V. Porkhanova, R. A. Murashko, N. V. Timoshkina, A. Yu. Maksimov, S. V. Timofeeva |
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| Vol 24, No 1 (2025) |
Comparative study of the complex of ribosomal genes in peripheral blood cells of patients with catatonic and paranoid forms of schizophrenia |
Abstract
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O. N. Agafonova, E. S. Ershova, A. V. Martynov, T. A. Salimova, G. P. Kostyuk, N. V. Zakharova, N. N. Veiko, S. V. Kostyuk |
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| Vol 24, No 1 (2025) |
Age of mucopolysaccharidosis-plus syndrome mutation in the Republic of Sakha (Yakutia) |
Abstract
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S. N. Novgorodova, A. I. Fedorov, P. I. Golikova, A. L. Sukhomyasova, V. N. Kharkov, V. A. Stepanov, N. R. Maksimova |
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| Vol 23, No 12 (2024) |
Multilocus imprinting disturbances in the structure of imprinting disorders in the Russian Federation |
Abstract
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E. G. Panchenko, O. A. Simonova, A. A. Reshetnikova, A. V. Efremova, G. G. Chesnokova, V. O. Sigin, F. A. Ageeva, I. V. Volodin, A. F. Nikolaeva, S. A. Kazakova, V. V. Musatova, M. V. Nemtsova, D. V. Zaletaev, V. V. Strelnikov |
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| Vol 23, No 12 (2024) |
CAGn polymorphic locus of the androgen receptor (AR) gene in Klinefelter syndrome patients |
Abstract
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V. B. Chernykh, O. A. Solovova, T. M. Sorokina, M. I. Shtaut, M. V. Andreeva, D. A. Bespalyuk, A. A. Stepanova, E. A. Bliznets, N. V. Oparina, N. V. Shilova, O. A. Schagina, A. V. Polyakov |
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| Vol 23, No 12 (2024) |
Predicting the pathogenicity of missense mutations in the TCF4 gene |
Abstract
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S. N. Gosudarkina, R. R. Savchenko, N. A. Skryabin |
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| Vol 23, No 12 (2024) |
Using episignature to diagnose Sotos syndrome |
Abstract
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A. V. Efremova, O. A. Zemlianaia, A. I. Kalinkin, D. V. Zaletaev, A. S. Tanas, V. V. Strelnikov, I. V. Volodin |
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| Vol 23, No 12 (2024) |
Evaluation of the efficiency of full-genome sequencing for karyotyping of spontaneous abortus cells with no proliferative activity |
Abstract
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A. S. Zuev, M. B. Kankanam Pathiranage, E. A. Fonova, D. G. Shevtsov, T. S. Babay, T. V. Nikitina, D. A. Fedotov, E. A. Sazhenova, E. N. Tolmacheva, S. A. Vasiliev |
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| Vol 23, No 12 (2024) |
Constitutional and mosaic CNVs in families with reproductive losses |
Abstract
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A. A. Kashevarova, G. V. Drozdov, R. R. Savchenko, D. I. Zhigalina, M. E. Lopatkina, T. V. Nikitina, E. A. Sazhenova, N. A. Skryabin, S. A. Vasilyev, I. N. Lebedev |
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| Vol 23, No 11 (2024) |
Urea cycle disorders: clinical and genetic characteristics of the cases identified in the Russian Federation during the expanded neonatal screening |
Abstract
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G. V. Baydakova G.V., M. M. Avakyan, T. N. Kekeeva, A. V. Degtyareva, E. V. Sokolova, A. V. Abrukova, E. Y. Belyashova, V. N. Belyaeva, V. A. Busygina, M. V. Gorda, T. P. Zhukova, S. Y. Ratnikova, Y. Y. Kotalevskaya, A. S. Latypov, S. A. Matulevich, R. V. Olennikova, E. V. Osipova, M. G. Sumina, N. S. Shatohkina, Y. S. Itkis, P. G. Tsygankova, Y. D. Nazarenko, S. N. Pchelina, E. Y. Zakharova |
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| Vol 23, No 11 (2024) |
Detection of recurrent chromosome 12 aneuploidy in human induced pluripotent stem cells using FISH with custom centromeric DNA-probes |
Abstract
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L. И. Gumerova, D. Г. Zheglo, V. O. Pozhitnova, P. S. Sviridov, A. V. Kislova, V. V. Sviridova, D. S. Kiselev, N. С. Mingaleva, A. Alsalloum, E. А. Gornostal, E. S. Voronina |
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| Vol 23, No 11 (2024) |
Using CRISPR/Cas technology to generate A549 human lung cancer subline with knockout of the E2F1 gene |
Abstract
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М. А. Zamkova, D. B. Kazansky, V. V. Tatarskiy |
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| Vol 23, No 11 (2024) |
In silico study of the spectrum of genetic variants associated with preeclampsia in the Russian population |
Abstract
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T. E. Lazareva, Y. A. Barbitoff, E. S. Vashukova, Y. A. Nasykhova, I. Y. Kogan, A. S. Glotov, O. N. Bespalova |
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| Vol 23, No 11 (2024) |
First results of the newborn screening for phenylketonuria as a part of an expanded neonatal screening in the Krasnodar region |
Abstract
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T. A. Golikhina, S. A. Matulevich, V. B. Ignatenko, S. Yu. Pseush |
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| Vol 23, No 10 (2024) |
Clinical polymorphism and genetic heterogeneity of isolated and syndromal forms of retinitis pigmentosa in closed isolates of the Republic of Buryatia |
Abstract
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V. V. Kadyshev, S. V. Averyanova, S. V. Kuznetsova, R. A. Zinchenko, A. A. Stepanova, S. I. Kutsev, T. N. Yuryeva |
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| Vol 23, No 10 (2024) |
Gene expression analysis and e-karyotyping of human blastocysts using whole transcriptome sequencing |
Abstract
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D. I. Zhigalina, O. R. Kanbekova, V. A. Shitov, N. A. Skryabin |
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| Vol 23, No 10 (2024) |
microRNA expression profile of adipose tissue in obesity and type 2 diabetes mellitus |
Abstract
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K. V. Dracheva, V. K. Skornyakova, K. A. Anisimova, E. T. Berulava, A. P. Sapozhnikova, A. D. Izumchenko, M. N. Grunina, S. G. Balandov, D. I. Vasilevsky, S. N. Pchelina, V. V. Miroshnikova |
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| Vol 23, No 9 (2024) |
Clinical and genetic characteristics of glutaric aciduria type 2 patients identified during the expanded neonatal screening program in the Russian Federation |
Abstract
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P. V. Baranova, G. V. Baydakova, D. V. Lendoeva, L. P. Andreeva, A. I. Gamzatova, L. N. Kolbasin, L. R. Nurgalieva, N. V. Sikora, T. V. Fedotova, P. G. Tsygankova, O. N. Ivanova, Y. D. Nazarenko, S. N. Pchelina, E. Y. Zakharova |
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| Vol 23, No 9 (2024) |
Embryonic mosaicism as a cause of errors and discordant results of prenatal diagnosis of chromosomal diseases |
Abstract
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O. V. Malysheva, E. S. Vashukova, A. S. Koltsova, O. A. Efimova, O. E. Talantova, A. A. Pendina, O. G. Chiryaeva, E. S. Shabanova, O. N. Bespalova, A. S. Glotov |
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