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| Issue |
Title |
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| Vol 24, No 1 (2025) |
Вirth rate in families burdened with hereditary pathology |
Abstract
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G. I. Еl’chinоvа, Yu. А. Rеvаzоvа, R. А. Zinchеnkо |
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| Vol 23, No 10 (2024) |
Development of a method for quantitative assessment of TREC and KREC molecules in whole blood and dried blood spots using digital PCR |
Abstract
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A. A. Sleptсov, D. S. Orlov, S. A. Ogorodnikov, M. S. Nazarenko |
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| Vol 23, No 10 (2024) |
The level of methylation of LINE-1 retrotransposon in chorionic villi in embryos from families with sporadic and recurrent miscarriage |
Abstract
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V. V. Demeneva, E. N. Tolmacheva, S. A. Filatova, A. S. Zuev, A. S. Ushakova, O. Yu. Vasilyeva, E. A. Sazhenova, T. V. Nikitina, S. A. Vasiliev |
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| Vol 23, No 5 (2024) |
A case of hypertripsinogenemia with partial trisomy 13 |
Abstract
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A. R. Repnikova, G. V. Prokoptseva, Mi Dya Kim, G. R. Galiullina, E. I. Kostirko, M. S. Samsonenko |
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| Vol 23, No 3 (2024) |
Bioethics and genetics: an analysis of Russian publications 1990–2023 |
Abstract
PDF (Rus)
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A. Yu. Dolgov |
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| Vol 23, No 2 (2024) |
Molecular cytogenetic diagnosis of paracentric inversion at 8p23.1 in the karyotype of the mother of a patient with invdupdel(8p) within ring chromosome 8 |
Abstract
PDF (Rus)
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A. A. Kashevarova, V. V. Demeneva, A. S. Zuev, M. E. Lopatkina, D. A. Fedotov, S. A. Vasiliev, I. N. Lebedev |
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| Vol 22, No 4 (2023) |
Partial spermatogenic arrest in two Robertsonian (14;15) translocations carriers |
Abstract
PDF (Rus)
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M. V. Andreeva, L. F. Kurilo, M. I. Shtaut, V. B. Chernykh |
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| Vol 22, No 3 (2023) |
Association of single nucleotide polymorphism Lys198Asn of the endothelin-1 gene with it’s concentration in the serum of multiple myeloma patients |
Abstract
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E. V. Mordvinova, A. S. Sustretov, T. P. Mironova, I. L. Davydkin, K. V. Naumova, T. Yu. Stepanova |
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| Vol 22, No 1 (2023) |
Methylation level analysis of putative regulatory region of MIR100 gene in carotid atherosclerosis by targeted bisulfite sequencing |
Abstract
PDF (Rus)
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I. A. Koroleva, A. A. Zarubin, N. P. Babushkina, D. E. Gomboeva, E. F. Muslimova, M. S. Kuznetsov, B. N. Kozlov, M. S. Nazarenko |
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| Vol 22, No 1 (2023) |
The expression of fibrogenesis genes in tissues of patients with carotid atherosclerosis |
Abstract
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I. A. Goncharova, A. A. Sleptcov, I. A. Koroleva, M. S. Nazarenko |
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| Vol 22, No 2 (2023) |
Gender differentiation of interethnic marriages of the population of the North Caucasus |
Abstract
PDF (Rus)
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G. I. Еl’chinova, R. A. Zinchenko |
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| Vol 22, No 2 (2023) |
Signals of directed selection in the indigenous populations of Central Asia |
Abstract
PDF (Rus)
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N. A. Kolesnikov, V. N. Kharkov, A. A. Zarubin, V. A. Stepanov |
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| Vol 21, No 7 (2022) |
Relationship between schizophrenia polygenic risk scores and schizotypy: dimensional and taxonomic approaches |
Abstract
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M. V. Alfimova, N. V. Kondratyev, V. V. Plakunova, T. V. Lezheiko, V. E. Golimbet |
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| Vol 21, No 8 (2022) |
New biological theory - the theory of carcino-evo-devo, its non-trivial predictions and relations to other biological theories |
Abstract
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A. P. Kozlov |
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| Vol 21, No 8 (2022) |
Search for ethnospecific associations of microRNA binding sites of candidate osteoarthritis genes in women from the Republic of Bashkortostan |
Abstract
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A. V. Tyurin, R. I. Khusainova |
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| Vol 21, No 10 (2022) |
Minor variants spectrum of the SMN locus |
Abstract
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K. A. Mikhalchuk, V. V. Zabnenkova, O. A. Shchagina, A. V. Polyakov |
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| Vol 21, No 11 (2022) |
The cytogenetic diagnostics of chronic lymphoproliferative diseases using locus-specific fluorescent probes |
Abstract
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A. V. Vozilova, D. V. Boiko |
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| Vol 21, No 12 (2022) |
Cellular stress blocks the transcription of satellite III on the first chromosome and reduces the content of satellite III in the DNA of cultured skin fibroblasts in patients with schizophrenia |
Abstract
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N. A. Salimova, N. N. Veiko, E. S. Ershova, N. V. Zaharova, S. V. Kostyuk |
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| Vol 21, No 7 (2022) |
Association analysis of miRNA-146a SNPs rs57095329 and rs2910164 with the efficacy of immune checkpoint inhibitors of clear cell renal cell carcinoma therapy |
Abstract
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D. D. Asadullina, I. R. Gilyazova, E. A. Ivanova, R. R. Rakhimov, A. F. Nasretdinov, A. A. Izmailov, G. R. Gilyazova, V. N. Pavlov, E. K. Khusnutdinova |
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| Vol 21, No 8 (2022) |
Influence of a genetic variant of schizophrenia risk at the ZNF804A locus and the presence of alcoholism in the parental family on the deficiency of emotion recognition in schizophrenia |
Abstract
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T. V. Lezheiko, M. V. Alfimova, V. E. Golimbet |
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| Vol 21, No 9 (2022) |
Single-nucleotide promoter polymorphism of angiotensin II type 1 receptor gene AGTR1 affects to sepsis course and outcome in patients with diabetes |
Abstract
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A. . Chumachenko, V. . Pisarev, R. . Cherpakov, E. . Grigoriyev |
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| Vol 21, No 10 (2022) |
Molecular diagnosis of hereditary connective tissue diseases |
Abstract
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D. D. Nadyrshina, A. R. Zaripova, A. V. Tyrin, V. L. Akhmetova, R. I. Khusainova |
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| Vol 21, No 11 (2022) |
Prenatal diagnostics: a 10-year overview |
Abstract
PDF (Rus)
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T. A. Gayner, O. G. Karimova, S. A. Tairova, S. V. Hrestina |
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| Vol 21, No 12 (2022) |
Selective inhibition of LRRK2 activity as an approach to the treatment of Parkinson's disease |
Abstract
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T. S. Usenko, K. S. Basharova, A. I. Bezrukova, M. A. Nikolaev, I. V. Miliukhina, G. V. Baydakova, E. Y. Zakharova, S. N. Pchelina |
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| Vol 21, No 7 (2022) |
Identification of population characteristics of the decidual cells transcriptome in severe preeclampsia |
Abstract
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A. A. Babovskaya, E. A. Trifonova, V. N. Serebrova, M. G. Svarovskaya, A. A. Zarubin, L. V. Rychkova, V. A. Stepanov |
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| Vol 21, No 8 (2022) |
Comparative characteristics of cytokine gene polymorphism in children with different variants of bronchial asthma |
Abstract
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M. A. Malinchik, M. V. Smolnikova |
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| Vol 21, No 9 (2022) |
Association of Adiponectin and Leptin Genetic Polymorphisms with Clinical Manifestations of Metabolic Syndrome |
Abstract
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I. I. Shramko, E. S. Ageeva, K. D. Maliy, I. N. Repinskaya, C. O. Tarimov, I. I. Fomochkina, A. V. Kubishkin, O. V. Ostapenko, A. K. Gurtovaya, Shekhar Suman, S. G. Nastoyashii |
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| Vol 21, No 10 (2022) |
Determination of the carriage of the «chimeric» CYP21A1P/CYP21A2 gene in families with a proband with non-classical congenital adrenal hyperplasia |
Abstract
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N. S. Osinovskaya, I. Yu. Sultanov, O. B. Glavnova, Yu. A. Nasykhova, A. S. Glotov |
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| Vol 21, No 11 (2022) |
Analysis of copy number aberrations in blood lymphocytes of nuclear industry workers exposed to external radiation |
Abstract
PDF (Rus)
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D. S. Isubakova, N. V. Litviakov, O. S. Tsymbal, T. V. Usova, M. Y. Tsyplenkova, I. V. Milto, R. M. Takhauov |
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| Vol 21, No 12 (2022) |
MiR-9, miR-27 a, miR-34a, miR-146a, miR-155 microRNA expression in the retina during the development of retinopathy similar to age-related macular degeneration in OXYS rats |
Abstract
PDF (Rus)
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A. A. Shklyar, N. G. Kolosova, O. S. Kozhevnikova |
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| Vol 21, No 7 (2022) |
The PMS2 gene is associated with HCVC |
Abstract
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N. P. Babushkina, I. A. Goncharova, A. E. Postrigan, A. N. Kucher |
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| Vol 21, No 8 (2022) |
Adipose tissue extracellular vesicles: search for new biomarkers of lipid and glucose metabolism dysfunction in obesity |
Abstract
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V. V. Miroshnikova, K. V. Dracheva, I. A. Pobozheva, K. A. Anisimova, Z. M. Hamid, S. G. Balandov, D. I. Vasilevsky, S. N. Pchelina |
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| Vol 21, No 9 (2022) |
FTO (rs9939609), FABP2 (rs1799883), and PPARG (rs1801282) gene polymorphisms and obesity risk in men living in Kuzbass |
Abstract
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A. A. Yakovleva, A. V. Torgunakova, O. A. Soboleva, V. I. Minina |
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| Vol 21, No 10 (2022) |
IL-17F gene polymorphisms in cystic fibrosis patients: influence on mortality rate |
Abstract
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D. A. Pukhalskaya, V. V. Shmarin, S. U. Semykin, S. A. Krasovsky, T. M. Bukina, G. V. Shmarina |
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| Vol 21, No 11 (2022) |
Algorithm for molecular diagnosis of hereditary pathology associated with single-gene CNVs |
Abstract
PDF (Rus)
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A. A. Kashevarova, M. E. Lopatkina, O. Yu. Vasilyeva, D. A. Fedotov, E. A. Fonova, A. A. Sivtsev, A. A. Zarubin, I. N. Lebedev |
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| Vol 21, No 12 (2022) |
The structure of the gene pool of Tomsk Tatars according to Y-chromosome markers |
Abstract
PDF (Rus)
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L. V. Valikhova, V. N. Kharkov, V. G. Volkov, I. Yu. Khitrinskaya, V. A. Stepanov |
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| Vol 21, No 7 (2022) |
Gene-Gene Interactions study of diseases with decline human cognitive functions |
Abstract
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A. V. Bocharova, A. V. Marusin, O. A. Makeeva, I. A. Zhukova, N. G. Zhukova, O. Yu. Fedorenko, S. A. Ivanova, A. V. Semke, V. A. Stepanov |
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| Vol 21, No 8 (2022) |
The relationship between TNF-α gene polymorphism rs1800629 and negative symptoms factors in schizophrenia |
Abstract
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V. A. Mikhailova, V. V. Plakunova, T. V. Lezheiko, N. Yu. Kolesina, V. E. Golimbet |
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| Vol 21, No 9 (2022) |
Study of genetic and epigenetic factors of primary osteoporosis development in men and women from the Volga-Ural region of Russia |
Abstract
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B. I. Yalaev, R. I. Khusainova |
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| Vol 21, No 10 (2022) |
Clinical significance of molecular genetic approaches based on NGS technologies in a sample of patients with primary ciliary dyskinesia |
Abstract
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G. M. Radzhabova, A. V. Smirnova, A. A. Knyazeva, A. A. Novak, Yu. L. Mizernitsky, N. V. Shcherbakova, D. S. Tsibulskaya, I. S. Povolotskaya |
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| Vol 21, No 11 (2022) |
Сhronic exposure effect on the telomere regions of the chromosomes of the human peripheral blood lymphocytes |
Abstract
PDF (Rus)
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Ya. V. Krivoshchapova |
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| Vol 21, No 12 (2022) |
Spectrum and characteristics of missense substitutions in the genes for NADH dehydrogenase subunits in the mtDNA haplogroups prevailing in Northern Eurasia |
Abstract
PDF (Rus)
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M. V. Golubenko, A. A. Zarubin, N. P. Babushkina, N. V. Tarasenko, R. R. Salakhov, M. S. Nazarenko |
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| Vol 15, No 3 (2016) |
Endogamy of urban and rural population of Karachay-Cherkessia |
Abstract
PDF (Rus)
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G. I. El`chinova, А. Н. Макаоv, A. N. Petrin, R. A. Zinchenko, E. K. Ginter |
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| Vol 21, No 7 (2022) |
Molecular similarity of multifactorial and Mendelian diseases |
Abstract
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E. Yu. Bragina, M. S. Nazarenko, V. P. Puzyrev |
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| Vol 21, No 8 (2022) |
Polymorphism of genes of hemostasis system factors FII, FV, FGB, PAI-1 and platelet receptors ITGA2, ITGB3 in patients with atrial fibrillation |
Abstract
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O. N. Ogurkova, Yu. G. Lugacheva, T. E. Suslova, I. V. Kulagina, M. A. Dragunova, R. E. Batalov |
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| Vol 21, No 9 (2022) |
Cystic fibrosis: modern possibilities of diagnosis and treatment based on molecular pathogenesis |
Abstract
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G. R. Ayupova, I. R. Minniakhmetov, R. I. Khusainova |
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| Vol 21, No 10 (2022) |
Results of the search for rare mutations in the analysis of the entire sequence of the PAH gene |
Abstract
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N. V. Ryadninskaya, I. A. Kuznetsova, O. P. Ryzhkova, A. V. Polyakov |
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| Vol 21, No 11 (2022) |
Complex genomic rearrangements in etiology of the «chromosomal phenotype» |
Abstract
PDF (Rus)
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M. E. Minzhenkova, Z. G. Markova, D. A. Yurchenko, A. A. Tarlycheva, T. V. Markova, N. A. Semenova, A. F. Murtazina, V. V. Kadyshev, M. M. Gridina, E. . Viesná, V. S. Fishman, N. V. Shilova |
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| Vol 21, No 12 (2022) |
Investigation of population characteristics of the frequencies of polymorphic variants of the vitamin D receptor gene in the population of Western Siberia |
Abstract
PDF (Rus)
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D. O. Imekina, A. D. Padyukova, A. V. Meyer, M. V. Uliyanova, M. B. Lavryashina |
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| Vol 15, No 6 (2016) |
A case of interstitial deletion in the short arm of chromosome 4 on a boy of thirteen years old with deficit in weight and learning disability |
Abstract
PDF (Rus)
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V. G. Antonenko, N. V. Markova, J. G. Markova, E. V. Musatova, Yu. O. Kozlova, N. V. Shilova |
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