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| Issue |
Title |
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| Vol 24, No 12 (2025) |
Lysosomal storage diseases and neurodegenerative diseases: the molecular basis of comorbidity. |
Abstract
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S. N. Pchelina |
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| Vol 24, No 12 (2025) |
Searching for RNA-markers of early clinical stages of Parkinson’s disease. |
Abstract
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E. I. Semenova, A. Kh. Alieva, M. V. Shulskaya, M. M. Rudenok, M. V. Lukashevich, I. N. Vlasov, S. N. Illarioshkin, E. Y. Fedotova, A. V. Karabanov, A. V. Rosinskaya, O. B. Doronina, K. S. Doronina, P. A. Slominsky, M. I. Shadrina |
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| Vol 24, No 12 (2025) |
Development of a method for determining the deletion of exon 7 in the SMN1 gene along with the copy number of the SMN1 and SMN2 genes using digital PCR. |
Abstract
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A. A. Slepzof, D. S. Orlov, M. S. Nazarenko, L. P. Nazarenko |
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| Vol 24, No 12 (2025) |
Dynamics of gene pool of Moscow population under action of migration processes. |
Abstract
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I. G. Udina, A. S. Gracheva |
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| Vol 24, No 12 (2025) |
BRCA-like phenotype in determining the treatment tactics for patients with breast cancer. |
Abstract
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M. M. Tsyganov, M. K. Ibragimova, O. D. Bragina, A. A. Fedorenko |
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| Vol 24, No 12 (2025) |
The influence of polygenic risk values on the development of dementia and on the dynamics of cognitive functions in patients with varying degrees of cognitive decline. |
Abstract
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E. D. Fedoseeva, A. Yu. Ikonnikova, M. A. Emelyanova, O. V. Antonova, M. A. Filippova, I. O. Morozova, A. B. Berdalin, V. M. Ushakova, A. G. Zeltser, T. S. Syunyakov, N. G. Osipova, Y. A. Zorkina, O. V. Abramova, D. S. Andreuyk, A. G. Ochneva, K. A. Pavlov, V. B. Savilov, K. P. Soloveva, M. V. Kurmishev, O. A. Karpenko, A. V. Andryushchenko, G. P. Kostyuk, A. Yu. Morozova, D. A. Gryadunov |
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| Vol 24, No 12 (2025) |
Experience with enzyme replacement therapy and the management of adult patients with lysosomal storage diseases in Yakutia. |
Abstract
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E. E. Gurinova, A. L. Sukhomyasova, R. N. Ivanova, I. A. Nikolaeva, P. I. Golikova, D. B. Kochkina, A. N. Luginova, S. N. Novgorodova, V. M. Sofronova, N. R. Everstova, N. R. Maksimova |
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| Vol 24, No 12 (2025) |
Clinical and genetic characterization of Hermansky-Pudlak Syndrome based on a multidisciplinary approach to the diagnosis of albinism. |
Abstract
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V. V. Kadyshev, S. A. Ionova, S. V. Kuznetsova, A. V. Marakhonov, O. A. Shchagina, S. I. Kutsev, R. A. Zinchenko |
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| Vol 24, No 12 (2025) |
The role of exome reanalysis on the way to diagnosis in childhood with congenital anomalies. |
Abstract
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A. M. Lapshina, P. N. Tsabai, A. A. Dokshukina, E. Shubina, D. N. Maslennikov, I. O. Sadelov, D. Yu. Trofimov |
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| Vol 24, No 12 (2025) |
Immunogenetic Aspects of Idiopathic Recurrent Pregnancy Loss in the Kazakh Population. |
Abstract
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A. V. Murtazaliyeva, G. S. Svyatova, G. M. Berezina |
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| Vol 24, No 12 (2025) |
Tyumen Siberian Tatars: features of gene pool according to the Y-chromosome study. |
Abstract
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A. D. Padyukova, D. O. Imekina, M. V. Ulyanova, M. B. Lavryashina |
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| Vol 24, No 12 (2025) |
Protective effect of SNP rs243865 MMP2 on the risk of uterine fibroids. |
Abstract
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E. M. Barysheva |
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| Vol 24, No 12 (2025) |
Pathogenetics of co-occurrence of bronchial asthma with cardiovascular, allergic and infectious diseases. |
Abstract
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Е. Yu. Bragina, I. А. Goncharova, М. B. Freidin, N. P. Babushkina, I. Zh. Zhalsanova, М. S. Nasarenko, V. P. Puzyrev |
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| Vol 24, No 12 (2025) |
Focus on women’s health in carriers of pathogenic variants in oncosyndrome genes (using a clinical case as an example). |
Abstract
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O. A. Buyanovskaya, S. V. Khokhlova, T. A. Nazarenko, N. A. Karetnikova |
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| Vol 24, No 12 (2025) |
Description of a clinical case of Krabbe disease. |
Abstract
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N. A. Gladkova, A. O. Vechkasova, D. M. Talova |
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| Vol 24, No 12 (2025) |
Study of genetic heterogeneity of connective tissue dysplasias in children. |
Abstract
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O. I. Gumeniuk, M. E. Lobanov, Yu. V. Chernenkov, O. S. Groznova, A. A. Pushkov, K. V. Savostyanov |
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| Vol 24, No 7 (2025) |
Investigation of non-coding RNA gene polymorphisms LINC02952/LINC02953, LINC02747/LINC02952, LINC02664 in clear cell renal cell carcinoma patients |
Abstract
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A. K. Chumakova, I. R. Gilyazova, A. A. Izmaylov, E. A. Ivanova, M. A. Bermisheva, G. R. Abdeeva, V. N. Pavlov, E. K. Khusnutdinova |
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| Vol 24, No 7 (2025) |
Analysis of CRISPR/Cas9 Off-Target Activity in a Yeast Model |
Abstract
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A. R. Shumega, D. M. Deviatkin, E. I. Stepchenkova |
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| Vol 24, No 7 (2025) |
Results of neonatal screening for congenital adrenal hyperplasia in Krasnodar region |
Abstract
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E. O. Shumlivaya, T. A. Golikhina, S. A. Matulevich |
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| Vol 24, No 7 (2025) |
Genetic markers of longevity and survival in physiological and pathological aging |
Abstract
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V. V. Erdman, I. A. Tuktarova, A. A. Petintseva, Y. R. Timasheva, T. R. Nasibullin |
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| Vol 24, No 7 (2025) |
Analysis of the association between SELP gene polymorphism and the risk of first-trimester pregnancy loss in women from the Rostov region |
Abstract
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T. A. Sukhodolova, E. V. Mashkina |
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| Vol 24, No 7 (2025) |
The role of chimeric LINE-1 transcripts in the human placenta during the first trimester of pregnancy |
Abstract
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E. N. Tolmacheva, M. A. Zhilkina, I. V. Lushnikov, S. A. Vasilyev |
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| Vol 24, No 7 (2025) |
Primary culture of peripheral blood macrophages as a model for screening targeted therapeutics for Parkinson’s disease |
Abstract
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T. S. Usenko, A. I. Bezrukova, K. S. Basharova, G. V. Baydakova, E. Yu. Zakharova, S. N. Pchelina |
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| Vol 24, No 7 (2025) |
Transcriptome analysis of brain cells in animal models under ischemic injury and the action of peptide drugs |
Abstract
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I. B. Filippenkov, L. V. Dergunova, N. F. Myasoedov, S. A. Limborska |
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| Vol 24, No 7 (2025) |
The genetic structure of hereditary forms of diabetes mellitus in the Russian Federation |
Abstract
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I. R. Minniakhmetov, Y. V. Dvoryanchikov, E. A. Sechko, D. N. Laptev, S. M. Deunezhewa, R. I. Khusainova, N. G. Mokrysheva |
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| Vol 24, No 7 (2025) |
The genetic landscape of human adaptation to extreme environmental conditions: correlation of EPAS1 gene polymorphism with climate-geographical factors |
Abstract
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I. Yu. Khitrinskaya, V. N. Kharkov, A. A. Zarubin, M. O. Radzhabov, V. A. Stepanov |
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| Vol 24, No 7 (2025) |
Genetic and Environmental Factors of Social Adaptation in Schizophrenia: The Role of OXTR, AGER, and Adverse Childhood Experiences |
Abstract
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V. A. Mikhailova, T. V. Lezheiko, V. V. Plakunova, V. E. Golimbet |
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| Vol 24, No 7 (2025) |
Polymorphism of genes involved in vitamin D metabolism and inflammatory response in patients with coronary artery disease |
Abstract
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M. V. Khutornaya, A. V. Ponasenko, A. V. Sinitskaya, O. N. Hryachkova, A. O. Poddubnyak, M. Yu. Sinitsky |
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| Vol 24, No 7 (2025) |
Comparison of the efficacy of gene therapy based on viral or non-viral vectors with the BMP2 gene for bone regeneration |
Abstract
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I. A. Nedorubova, V. O. Chernomyrdina, V. P. Basina, A. Yu. Meglei, T. E. Grigoriev, Yu. D. Zagoskin, D. V. Goldshtein, T. B. Bukharova |
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| Vol 24, No 7 (2025) |
Molecular and genetic features of iris and choroidal melanoma |
Abstract
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A. Iu. Tsygankov, S. V. Saakyan, I. V. Svirina, A. M. Burdennyi, V. I. Loginov |
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| Vol 24, No 7 (2025) |
Clinical footprints of inherited metabolic disorders |
Abstract
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O. V. Novoselova, I. S. Kazachkova, N. I. Isaeva, R. A. Bikanov |
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| Vol 24, No 7 (2025) |
Whole genome sequencing in unsolved cases in Russian patients with recessive inherited retinal diseases |
Abstract
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N. Yu. Ogorodova, A. A. Stepanova, V. V. Kadyshev, O. I. Klimchuk, R. A. Zinchenko, A. V. Polyakov, O. A. Shchagina |
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| Vol 24, No 7 (2025) |
GWAS-significant uterine fibroid locus rs66998222 LOC102723323 is associated with the risk of benign ovarian tumors |
Abstract
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L. A. Ponomareva |
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| Vol 24, No 7 (2025) |
Analysis of the phenotypic diversity of Kabuki type 1 syndrome depending on the genetic variant |
Abstract
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V. M. Popova, N. V. Zhurkova, N. D. Vashakmadze, M. A. Babaikina |
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| Vol 24, No 7 (2025) |
Melanocytic intraocular neoplasms: new possibilities of minimally invasive differential diagnosis |
Abstract
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S. V. Saakyan, A. Iu. Tsygankov, E. B. Myakoshina, A. M. Burdennyi, V. I. Loginov |
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| Vol 24, No 7 (2025) |
Features of the determination copy number variations during exome sequencing in newborns |
Abstract
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I. O. Sadelov, J. Shubina, I. Y. Barkov, A. A. Voskoboinikov, D. N. Maslennikov, A. M. Lapshina, A. A. Dokshukina, M. V. Kuznetsova, G. V. Mikhaylovskaya |
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| Vol 24, No 7 (2025) |
Genetic and epigenetic aspects of the central precocious puberty |
Abstract
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E. A. Sazhenova, O. Yu. Vasilyeva, E. A. Fonova, M. B. Kankanam Patiranage, A. Yu. Sambyalova, E. E. Khramova, L. V. Rychkova, A. A. Kashevarova, S. A. Vasilyev, I. N. Lebedev |
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| Vol 24, No 7 (2025) |
Key genes and signaling pathways underlying infective endocarditis: results of whole transcriptome sequencing |
Abstract
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A. V. Sinitskaya, A. E. Kostyunin, M. V. Khutornaya, M. A. Asanov, A. O. Poddubnyak, A. E. Tupikin, M. R. Kabilov, M. Yu. Sinitsky |
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| Vol 24, No 7 (2025) |
Results of the extended genotyping program for patients with suspected cystic fibrosis |
Abstract
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A. A. Stepanova, N. M. Galeeva, O. A. Schagina, O. P. Ryzhkova, S. A. Krasovsky, A. Y. Voronkova, E. K. Zhekaite, Y. L. Melyanovskaya, E. I. Kondratyeva, A. V. Polyakov |
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| Vol 24, No 7 (2025) |
Testing of common mutations of the low-density lipoprotein receptor (LDLR) gene causing familial hypercholesterolemia in St. Petersburg |
Abstract
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M. Y. Mandelshtam, F. M. Zakharova |
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| Vol 24, No 7 (2025) |
Association analysis of the of the rs1466662 polymorphic variant in the DCHS2 gene with personal characteristics of students determined by sixteen Сatell factor questionnaire (16PF) |
Abstract
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A. V. Marusin, A. N. Kornetov, M. G. Svarovskaya, A. V. Bocharova, V. A. Stepanov |
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| Vol 24, No 7 (2025) |
The ICM method in clinical practice |
Abstract
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Yu. L. Melyanovskaya, E. I. Kondratyeva |
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| Vol 24, No 7 (2025) |
Genotoxic effects in workers of coal production |
Abstract
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V. I. Minina, A. V. Marushchak, A. V. Chernova, A. A. Timofeeva |
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| Vol 24, No 7 (2025) |
Angiogenesis inhibitor genes expression of the Wistar rat heart exposure to low-dose doxorubicin |
Abstract
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M. A. Asanov, A. O. Poddubnyak, A. V. Sinitskaya, M. Yu. Sinitsky |
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| Vol 24, No 7 (2025) |
MicroRNA regulator of the clinical form of endocrine ophthalmopathy |
Abstract
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A. F. Brovkina, D. A. Sychev |
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| Vol 24, No 7 (2025) |
Genetic heterogeneity of overgrowth and vascular malformation syndromes |
Abstract
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E. V. Bychkova, N. A. Semenova, G. B. Sagoyan, D. M. Guseva, V. V. Strelnikov |
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| Vol 24, No 7 (2025) |
Genetic structure of early morbid obesity in children in the Russian Federation |
Abstract
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O. V. Vasyukova, D. A. Kopytina, P. L. Okorokov, R. R. Salakhov, R. I. Khusainova, I. R. Minniakhmetov, E. V. Nagaeva, O. B. Bezlepkina, V. A. Peterkova, N. G. Mokrysheva |
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| Vol 24, No 7 (2025) |
Analysis of cardiovascular risk genes polymorphism in workers in hazardous industries |
Abstract
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O. V. Gorenskaya, A. P. Kotnova, O. V. Egorova, D. S. Gavrilchenko, M. G. Platoshkin, N. A. Ilyushina |
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| Vol 24, No 7 (2025) |
Current challenges of genotoxicity testing |
Abstract
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A. K. Zhanataev, A. D. Durnev |
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| Vol 24, No 7 (2025) |
Molecular and clinical features of Alport syndrome |
Abstract
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V. A. Kadnikova, N. M. Galeeva, E. A. Shestopalova, L. A. Bessonova, O. P. Ryzhkova, A. V. Polyakov |
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