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| Issue |
Title |
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| Vol 24, No 8 (2025) |
Two faces of DNMT3A-associated pathology |
Abstract
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O. S. Sharonova, K. E. Valyakina, P. R. Korzun, K. S. Malysheva, S. A. Laptiev, E. N. Suspitsin |
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| Vol 24, No 8 (2025) |
Analysis of single nucleotide polymorphism of genes of the blood coagulation system FV (G1691A), ITGA2 (C807T) in patients with miscarriage |
Abstract
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V. V. Shеvtsova, G. V. Komkova |
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| Vol 24, No 8 (2025) |
Do we know everything about the KRAS gene? |
Abstract
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V. P. Shubin, A. N. Loginova, S. I. Achkasov, Yu. A. Shelygin, A. S. Tsukanov |
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| Vol 24, No 8 (2025) |
An Exhaustive Analysis of a Rare Case of Paternal Uniparental Isodisomy of Chromosome 16 |
Abstract
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E. G. Panchenko, N. A. Semenova, O. A. Sereda, D. M. Guseva, Z. G. Markova, N. V. Shilova, O. A. Simonova, A. S. Smirnov, D. V. Pustoshilov, A. A. Halilova, V. Yu. Udalova, I. V. Kanivets, D. V. Zaletaev, V. V. Strelnikov |
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| Vol 24, No 8 (2025) |
Analysis of the patterns of combinations of polymorphic variants in redox homeostasis genes associated with aging and longevity |
Abstract
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A. A. Petintseva, T. R. Nasibullin, I. A. Tuktarova, Ya. R. Timasheva, V. V. Erdman |
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| Vol 24, No 8 (2025) |
The role of aphidicolin-sensitive fragile sites in iPSCs genetic instability |
Abstract
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V. O. Pozhitnova, A. V. Kislova, P. S. Sviridov, V. V. Sviridova, L. I. Gumerova, D. S. Kiselev, D. G. Zheglo, E. S. Voronina |
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| Vol 24, No 8 (2025) |
Rare variants in the LEPR gene identified in three patients with severe early-onset obesity and hyperphagia |
Abstract
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A. V. Pustovalova, A. F. Nikolaeva, A. N. Tiulpakov, Y. V. Tikhonovich, O. P. Ryzhkova, V. O. Sigin |
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| Vol 24, No 8 (2025) |
Hereditaty spastic paraplegias: new findings and rare phenotypes |
Abstract
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G. E. Rudenskaya, V. A. Kadnikova, F. M. Bostanova, I. V. Sharkova, M. S. Petukhova, E. S. Nagieva, L. A. Bessonova, T. V. Markova, O. A. Shchagina, O. P. Ryzhkova |
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| Vol 24, No 8 (2025) |
Identification of hereditary forms of morbid obesity in children |
Abstract
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R. R. Salakhov, D. A. Kopytina, R. I. Khusainova, O. V. Vasyukova, R. M. Guseynova, V. A. Peterkova, I. R. Minniakhmetov, N. G. Mokrysheva |
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| Vol 24, No 8 (2025) |
Study of the effect of methylene blue on DNA breaks in Esсherichia coli cells using gel electrophoresis method |
Abstract
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А. Saparova, E. V. Igonina, S. K. Abilev |
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| Vol 24, No 8 (2025) |
Association study of polymorphisms of the glutathione s-transferase alpha 4 (GSTA4) gene and the risk of psoriasis: a pilot study |
Abstract
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R. V. Saranyuk, O. Yu. Bushueva, E. V. Efanova, A. A. Polonikova, M. A. Solodilova, A. V. Polonikov |
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| Vol 24, No 8 (2025) |
A study on the association between the single nucleotide polymorphisms rs17293632 and rs2033784 of the SMAD3 gene and the risk of bronchial asthma in children from the Kursk region |
Abstract
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A. V. Serezhkina, O. Yu. Bushueva, P. K. Sunyakina, A. D. Bogomazov, A. V. Polonikov |
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| Vol 24, No 8 (2025) |
Comorbidity of autosomal recessive diseases with developmental delay: а clinical case |
Abstract
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O. M. Sizyakova, O. S. Senina, D. V. Usova, M. S. Balashova, I. Yu. Ozhegova, N. A. Zhuchenko |
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| Vol 24, No 8 (2025) |
Assessment of senior students’ satisfaction with teaching medical and clinical genetics at Kursk State Medical University |
Abstract
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M. A. Solodilova, V. A. Korolev, G. V. Komkova, N. V. Ivanova, A. V. Polonikov |
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| Vol 24, No 8 (2025) |
Role of AID/APOBEC cytidine deaminases in genome destabilization in cancer: insights from a yeast test system |
Abstract
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E. I. Stepchenkova, E. V. Kravtsova, A. E. Shipunova, A. V. Tsaregorodtseva, I. V. Zotova, Y. I. Pavlov |
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| Vol 24, No 8 (2025) |
Cytogenetic monitoring using the buccal micronucleus cytome assay (BMCA) |
Abstract
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L. P. Sycheva, S. M. Kiselev, N. K. Shandala |
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| Vol 24, No 8 (2025) |
CETP gene polymorphism in Siberian populations |
Abstract
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L. E. Tabikhanova, T. V. Churkina, E. N. Voronina |
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| Vol 24, No 8 (2025) |
Gene pool of Altai Kazakhs by Y-chromosome haplogroups |
Abstract
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V. N. Kharkov, L. V. Valikhova, A. A. Zarubin, I. Yu. Khitrinskaya, V. A. Stepanov |
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| Vol 24, No 8 (2025) |
Features of steroidogenesis gene variants in female patients with a burdened obstetric and gynecological history |
Abstract
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N. S. Osinovskaya, Yu. A. Nasykhova, T. E. Lazareva, I. Yu. Sultanov, O. A. Tarasenko, O. B. Glavnova, M. I. Yarmolinskaya, A. S. Glotov |
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| Vol 24, No 8 (2025) |
Cytokines levels as an inflammation markers in autoinflammatory diseases |
Abstract
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E. A. Deviatkina, V. D. Nazarov, A. K. Musonova, S. V. Lapin, I. V. Kholopova |
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| Vol 24, No 8 (2025) |
Investigation of the sensitivity of CFTR variants to Ivacaftor/Lumacaftor in intestinal organoids model |
Abstract
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A. S. Efremova, Yu. L. Melyanovskaya, D. O. Mokrousova, M. G. Krasnova, N. V. Rassomahina, E. I. Kondratyeva, D. V. Goldshtein |
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| Vol 24, No 8 (2025) |
Genetic landscape of Kabuki syndrome in Russian patients: spectrum of variants in KMT2D and KDM6A genes |
Abstract
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K. G. Zabudskaya, V. V. Zabnenkova, T. B. Cherevatova, M. V. Bulakh, A. A. Orlova, M. D. Orlova, O. L. Mironovich, T. V. Vizerov, F. M. Bostanova, I. V. Anisimova, D. V. Gorodilova, E. A. Shestopalova, N. A. Semenova, A. S. Kuchina, L. A. Bessonova, M. S. Petukhova, N. B. Kuryakova, A. E. Voskanyan, T. V. Markova, G. N. Matyushchenko, O. P. Ryzhkova |
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| Vol 24, No 8 (2025) |
Chromosome damage in miners with occupational lung diseases |
Abstract
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Ya. A. Zakharova, V. I. Minina, M. L. Bakanova, A. A. Timofeeva, A. N. Glushkov |
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| Vol 24, No 8 (2025) |
Family case of type 2 agammaglobulinemia identified during expanded neonatal screening |
Abstract
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S. A. Korhmazova, S. A. Matulevich, T. A. Golikhina, P. D. Lashevich |
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| Vol 24, No 8 (2025) |
Сlinical manifestations and molecular genetic characterization of heterotaxy syndrome in patients from the Republic of Belarus |
Abstract
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А. А. Lazarevich |
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| Vol 24, No 8 (2025) |
Clinical cytogenomics: advances and horizons |
Abstract
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I. N. Lebedev |
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| Vol 24, No 8 (2025) |
Body composition in children with cystic fibrosis and its association with polymorphic variants of energy metabolism genes |
Abstract
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T. Yu. Maksimycheva, E. I. Kondratyeva, Yu. L. Melyanovskaya, M. V. Tarasov, E. V. Loshkova, N. V. Balinova, S. P. Shchelykalina |
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| Vol 24, No 8 (2025) |
Rare nucleotide sequence variants of pyroptosis-related genes in premature infants with bronchopulmonary dysplasia |
Abstract
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A. P. Mikhalenka, V. M. Malyshava, A. P. Sukharava, M. V. Artsiusheuskaya, A. V. Kilcheusky |
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| Vol 24, No 8 (2025) |
Characteristics of a cohort of Russian patients with sceletal ciliopathys |
Abstract
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A. R. Morgul, D. V. Gorodilova, M. V. Sharova, E. Yu. Nuzhnaya, I. A. Komolkin, T. S. Nagornova, O. P. Ryzhkova, T. V. Markova |
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| Vol 24, No 8 (2025) |
Study of neurofibromatosis type 1 in the Republic of Bashkortostan – results and prospects |
Abstract
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R. N. Mustafin, E. K. Khusnutdinova |
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| Vol 24, No 8 (2025) |
Identification of a novel pathogenic variant in the BBS9 gene in three family members with Bardet-Biedl syndrome |
Abstract
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A. F. Nikolaeva, E. A, Shestopalova, O. P. Ryzhkova, V. O. Sigin |
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| Vol 24, No 8 (2025) |
Progressive familial intrahepatic cholestasis: сlinicalе features and genetic heterogeneity |
Abstract
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E. Yu. Nuzhnaya, E. A. Gusarova, A. V. Efremovа, T. V. Strokova, N. N. Taran, A. R. Morgul, M. V. Sharova, P. A. Vasiliev, D. V. Gorodilova, F. M. Bostanova, A. S. Kuchina, A. E. Voskanyan, E. Yu. Zakharova, N. A. Semenova |
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| Vol 24, No 8 (2025) |
Study of genetic stability of induced pluripotent stem cells intended for modeling hereditary diseases |
Abstract
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E. S. Voronina, D. G. Zheglo, V. O. Pozhitnova, Z. G. Markova, V. V. Sviridova, A. V. Kislova, P. S. Sviridov, D. S. Kiselev, L. I. Gumerova |
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| Vol 24, No 8 (2025) |
Relationship of pharmacoresistance, dose of antipsychotics and polymorphic gene loci CYP2D6, CYP1A2, MDR1, SLC6A4 in patients with schizophrenia |
Abstract
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I. M. Halayenka, T. S. Golubeva, Yu. M. Kaminskaya, G. V. Sergeev, V. G. Objedkov |
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| Vol 24, No 8 (2025) |
The LZTFL1 gene polymorphic variant rs73064425 correlation with clinical and laboratory parameters in patients with novel coronavirus infection |
Abstract
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A. A. Gusarova, R. A. Korneeva, E. A. Trifonova, A. V. Bocharova, A. A. Babovskaya, M. M. Gavrilenko, I. D. Bespalova, A. V. Teteneva, O. V. Zhilyakova, T. V. Gabidulina, S. Yu. Yuryev, V. A. Stepanov |
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| Vol 24, No 8 (2025) |
Profiling of differential gene expression in leomyoma and myometrium in primary and recurrent uterine fibroids |
Abstract
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L. V. Akulenko, E. A. Nersesyan, M. V. Kuznetsova, L. V. Adamyan |
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| Vol 24, No 8 (2025) |
Hereditary copy number variations of BRCA1/2 in breast and ovarian cancers |
Abstract
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S. N. Aleksakhina, E. V. Preobrazhenskaya, M. V. Syomina, E. O. Belyaeva, E. N. Imyanitov |
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| Vol 24, No 8 (2025) |
New nucleotide sequence variant of the OCRL gene in a newborn with Lowe syndrome |
Abstract
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M. V. Artsiusheuskaya, A. P. Mikhalenka, A. P. Sukharava, V. M. Malyshava, Y. S. Stankevich, S. V. Baiko, Н. А. Sushchenia |
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| Vol 24, No 8 (2025) |
Molecular-genetic and clinical diagnosis in a patient with complex eye dysgenesis, which included optic nerve coloboma and slight iris structure abnormalities |
Abstract
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T. A. Vasilyeva, V. V. Kadyshev, O. V. Khalanskaya, A. V. Marakhonov, R. A. Zinchenko |
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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) |
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) |
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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