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| Issue |
Title |
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| Vol 23, No 11 (2024) |
Clinical manifestations and X-chromosome inactivation in case of duplication of the Xq22.3q25 region |
Abstract
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E. N. Tolmacheva, A. A. Kashevarova, N. N. Sukhanova, A. А. Agafonova, L. I. Minaycheva, E. A. Fonova, O. Yu. Vasilyeva, D. A. Fedotov, I. N. Lebedev |
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| Vol 23, No 6 (2024) |
Southern Altaians: the difference in the structure of the gene pool of Telengites and Altai-Kizhi according to X-STR markers |
Abstract
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K. V. Vagaytseva, L. V. Valikhova, N. A. Kolesnikov, V. N. Kharkov, A. V. Bocharova, I. A. Volkova, V. A. Stepanov |
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| Vol 23, No 6 (2024) |
Population structure of North Ossetia-Alania |
Abstract
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G. I. Еl’chinоvа, I. S. Теbiеvа, Yu. А. Rеvаzоvа, Т. V. Vаsilyеvа, А. V. Маrаkhоnоv, V. V. Каdyshеv, N. V. Bаlinоvа, Е. К. Gintеr, R. А. Zinchеnkо |
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| Vol 12, No 4 (2013) |
VARIABILITY OF INTERLEUKIN 4 AND ITS RECEPTOR GENES IN NATIVE POPULATIONS OF SIBERIA |
Abstract
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V. A. Stepanov, E. A. Trifonova, K. V. Simonova, A. A. Cherednichenko |
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| Vol 12, No 1 (2013) |
MEDICALGENETIC STUDY OF THE TATARCTAN REPUBLIC. IV GAMET'S INDEX |
Abstract
PDF (Rus)
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G. I. El'chinova, L. A. El'kanova, T. A. Vasil'eva, R. A. Zinchenko |
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| Vol 19, No 3 (2020) |
Clinical and molecular cytogenetic characterization of two cases of inverted duplication deletion 8p |
Abstract
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D. A. Yurchenko, M. E. Minzhenkova, E. L. Dadali, N. V. Shilova |
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| Vol 19, No 3 (2020) |
Trends in early prenatal screening for chromosomal abnormalities and congenital malformations in Russia in 2018 |
Abstract
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E. A. Kalashnikova, E. N. Andreeva, P. A. Goloshubov, N. O. Odegova, E. V. Yudina, L. A. Zhuchenko |
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| Vol 19, No 4 (2020) |
Genetic variants of the TCF4, LSM1, and CCDC60 genes are associated with schizophrenia |
Abstract
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A. V. Bocharova, A. V. Marusin, S. A. Ivanova, O. U. Fedorenko, A. V. Semke, V. A. Stepanov |
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| Vol 19, No 4 (2020) |
Molecular-genetic characteristics of Facioscapulohumeral muscular dystrophy in the Russian population |
Abstract
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N. V. Zernov, A. A. Gousskova, M. Yu. Skoblov |
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| Vol 19, No 4 (2020) |
Intermediate alleles of HTT gene in patients with Parkinson’s disease |
Abstract
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D. E. Gomboeva, E. Yu. Bragina, M. A. Nikitina, N. G. Zhykova, V. M. Alifirova, M. S. Nazarenko, V. P. Puzyrev |
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| Vol 19, No 5 (2020) |
Regular genetic counseling and DNA diagnostics of hereditary diseases of the cardiovascular system in the practice of the federal multidisciplinary surgical center (the analysis of the experience of last 10 years work experience of medical genetics laboratory of Petrovsky National Research Centre of Surgery) |
Abstract
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V. A. Rumyantseva, E. V. Zaklyazminskaya |
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| Vol 19, No 5 (2020) |
SNP rs4538 CYP11B2: g.142913286G> T study in essential hypertension |
Abstract
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B. A. Tkhorenko, A. V. Tsepokina |
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| Vol 19, No 5 (2020) |
The role of the genes of the enzymes of free radical and toxic compounds metabolism in aging and longevity |
Abstract
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V. V. Erdman, T. R. Nasibullin, I. A. Tuktarova, T. V. Viktorova, A. Z. Matua, O. E. Mustafina |
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| Vol 19, No 6 (2020) |
Single-nucleotide polymorphisms of the ATM gene, which form a predisposition to breast and ovarian cancer in a population sample of the Chechen Republic |
Abstract
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Z. I. Bisultanova, P. M. Dzhambetova |
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| Vol 19, No 6 (2020) |
The study of gene polymorphisms of the IL-17 family in patients with gastric cancer of the West Siberian region |
Abstract
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M. A. Gubina, I. G. Solovieva, V. N. Babenko, M. M. Cherenkova, A. Yu. Gubina |
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| Vol 19, No 7 (2020) |
Mongolian genetic component in the gene pool of the indigenous population of Siberia, Central Asia and Eastern Europe |
Abstract
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I. Yu. Khitrinskaya, V. N. Kharkov, A. A. Zarubin, S. S. Litvinov, N. V. Ekomasova, E. K. Khusnutdinova, V. A. Stepanov |
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| Vol 19, No 7 (2020) |
Mutation analysis of the SLC26A4 gene in patients in Yakutia with inner ear abnormalities: IP-I, IP-II (Mondini) and / or EVA |
Abstract
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L. A. Klarov, K. Yu. Nikolaev, A. A. Nikanorova, A. M. Cherdonova, M. M. Popov, F. M. Teryutin, V. G. Pshennikova, N. V. Luginov, P. M. Kotlyarov, N. A. Barashkov |
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| Vol 19, No 7 (2020) |
Gaucher disease neonatal screening experience with using artificial fluorogenic substrate |
Abstract
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D. S. Orlov, L. I. Didenko, L. P. Nazarenko |
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| Vol 19, No 8 (2020) |
RASopathies in multidisciplinary pediatric hospita |
Abstract
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N. V. Zhurkova, L. A. Gandaeva, A. A. Pushkov, E. N. Basargina, A. V. Pahomov, S. K. Trufanov, A. Yu. Alekseeva, K. V. Savostyanov |
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| Vol 19, No 8 (2020) |
Genetic architecture of osteogenesis imperfecta in the Republic of Bashkortostan |
Abstract
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A. R. Zaripova, I. R. Minniakhmetov, R. I. Khusainova, A. V. Tyurin, N. A. Scriabin, T. S. Korotkaya, E. Y. Zakharova |
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| Vol 19, No 8 (2020) |
The study of gene polymorphisms, involved in the metabolism of beta-2-agonists and histamine, in the development and course of asthma |
Abstract
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O. N. Savelieva, A. S. Karunas, Yu. Yu. Fedorova, R. R. Murzina, A. N. Savelieva, E. E. Aktaeva, R. F. Gatiyatullin, E. I. Etkina, Sh. Z. Zagidullin, E. K. Khusnutdinova |
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| Vol 19, No 9 (2020) |
Antimutagenic activity and hepatoprotective effect of anti-radiation drugs |
Abstract
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L. P. Sycheva, L. M. Rozhdestvenskii, N. I. Lisina, T. G. Shliakova, V. V. Zorin |
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| Vol 19, No 10 (2020) |
Reflection and biosociality: autonomy, responsibility and informed consent for biobank |
Abstract
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R. R. Belyaletdinov |
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| Vol 19, No 11 (2020) |
Single cell and whole genome amplification product validation of preimplantation genetic testing systems for monogenic disorders |
Abstract
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E. V. Soloveva, O. R. Kanbekova, D. I. Zhigalina, N. A. Skryabin, L. I. Minaycheva |
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| Vol 19, No 12 (2020) |
Increased methylation of gene promoters in the trophoblast of spontaneous miscarriages with trisomy 16 |
Abstract
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S. A. Vasilyev, E. N. Tolmacheva, O. Yu. Vasilyeva, T. V. Nikitina, E. A. Sazhenova, A. V. Markov, E. S. Serdukova, I. N. Lebedev |
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| Vol 20, No 10 (2021) |
Identification of modifying copy number variations in healthy carriers of pathogenetically significant CNVs |
Abstract
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E. O. Belyaeva, A. A. Kashevarova, S. A. Vasiliev, N. A. Skryabin, M. E. Lopatkina, G. V. Drozdov, D. A. Fedotov, I. N. Lebedev |
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| Vol 19, No 3 (2020) |
Direct and reverse ontogenetics of chromosomal diseases |
Abstract
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I. N. Lebedev |
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| Vol 19, No 3 (2020) |
Klinefelter syndrome: low level and tissue mosaicism |
Abstract
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E. G. Trebka |
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| Vol 19, No 3 (2020) |
Analysis of trisomy 21 risk in early prenatal screening |
Abstract
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E. S. Zaytseva, T. P. Zhukova, S. Y. Ratnikova, I. L. Artemicheva |
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| Vol 19, No 4 (2020) |
A study of the effects of stressful precipitating factors and gene polymorphisms of the oxytocinergic system on schizophrenia |
Abstract
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T. V. Lezheiko, N. Y. Kolesina, V. E. Golimbet |
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| Vol 19, No 4 (2020) |
Atypical manifestation of familial laminopathy with simultaneous damage to the cardiac, muscle and peripheral nervous systems |
Abstract
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Y. V. Fomicheva, T. L. Vershinina, A. P. Semenov, A. A. Kostareva |
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| Vol 19, No 4 (2020) |
Epigenetic regulation of SNCA gene expression in Parkinson’s disease |
Abstract
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A. . Emelyanov, A. . Lavrinova, N. . Melnikova, A. . Dmitriev, I. . Miliukhina, A. . Timofeeva, E. . Litusova, P. . Gagarina, O. . Berkovich, S Pchelina |
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| Vol 19, No 5 (2020) |
Mitochondrial genome variability in sudden cardiac death |
Abstract
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M. V. Golubenko, R. R. Salakhov, A. V. Tsepokina, S. A. Afanasyev, E. F. Muslimova, T. Y. Rebrova, E. A. Archakov, E. V. Borisova, R. E. Batalov, V. N. Maximov, A. A. Ivanova, A. A. Gurazheva, P. S. Orlov, N. P. Babushkina, A. A. Zarubin, A. V. Ponasenko, M. S. Nazarenko, V. P. Puzyrev |
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| Vol 19, No 5 (2020) |
Molecular and epigenetic mechanisms of the involvement of redox-homeostasis genes in the development of various cardiovascular diseases |
Abstract
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O. Yu. Bushueva, E. M. Barysheva, A. V. Markov, Yu. A. Koroleva, E. O. Churkin, M. S. Nazarenko, A. V. Polonikov, V. P. Ivanov |
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| Vol 19, No 5 (2020) |
The method of analysis of complex traits to the formation of national teams of athletes |
Abstract
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V. V. Nikishin, P. V. Izhevskiy |
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| Vol 19, No 6 (2020) |
LIG1 and LIG3 repair gene polymorphisms and the risk of developing breast and ovarian cancer |
Abstract
PDF (Rus)
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Z. I. Bisultanova, P. M. Dzhambetova |
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| Vol 19, No 6 (2020) |
Somatic mutations in epigenetic regulation genes detected by NGS in gastric tumors |
Abstract
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M. V. Nemtsova, A. I. Kalinkin, E. B. Kuznetsova, E. A. Alekseeva, I. V. Bure, D. S. Mikhaylenko, A. S. Tanas, V. V. Strelnikov |
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| Vol 19, No 7 (2020) |
Features of the diversity of hereditary diseases in different regions and multiethnic populations of the Russian Federation |
Abstract
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R. A. Zinchenko, E. K. Ginter, S. I. Kutsev |
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| Vol 19, No 7 (2020) |
Allele frequencies of GJB2 mutations in a population-based cohort study (ESSE-Vologda) |
Abstract
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M. V. Klimushina, A. V. Kiseleva, O. V. Kurilova, O. P. Skirko, E. A. Sotnikova, M. G. Divashuk, E. Yu. Khlebus, I. A. Efimova, M. S. Pokrovskaya, P. A. Slominsky, A. N. Meshkov, O. M. Drapkina |
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| Vol 19, No 7 (2020) |
Findings of type IIIa mucolipidosis in patients of the Republic of Tyva |
Abstract
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A. N. Semyachkina, E. Y. Voskoboeva, L. P. Nazarenko, T. M. Bukina, I. S. Dantsev, A. R. Zabrodina, E. A. Nikolaeva, E. Y. Zakharova |
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| Vol 19, No 8 (2020) |
Tuberous sclerosis in the Republic of Sakha (Yakutia) |
Abstract
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V. M. Sofronova, D. A. Petukhova, A. L. Sukhomyasova, N. R. Maksimova |
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| Vol 19, No 8 (2020) |
Molecular genetic analysis of the EXT2 gene - causes of hereditary multiple exostoses in Yakuts |
Abstract
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A. E. Yakovleva, D. A. Petukhova, A. L. Danilova, A. L. Sukhomyasova, N. R. Maksimova |
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| Vol 19, No 8 (2020) |
Study of polymorphisms and the methylation status of genes involved in glucocorticosteroid metabolism in patients with asthma and healthy individuals |
Abstract
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Yu. Yu. Fedorova, A. S. Karunas, O. N. Savelieva, G. F. Gimalova, R. R. Murzina, R. F. Gatiyatullin, E. I. Etkina, E. K. Khusnutdinova |
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| Vol 19, No 9 (2020) |
The protective properties of the Achillea millefolium L. extract are relative to the toxic and genotoxic effects of etoside on the example of Drosophila melanogaster |
Abstract
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O. N. Antosyuk, V. N. Orlova |
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| Vol 19, No 10 (2020) |
Biosociality and bioidentity: current situation and ethical perspectives |
Abstract
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R. R. Belyaletdinov, V. V. Popov, O. V. Popova |
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| Vol 19, No 11 (2020) |
NGS for prenatal diagnosis of fetal anomalies |
Abstract
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T. I. Yanova, I. V. Kanivets, S. A. Korostelev, D. V. Pyankov, V. J. Udalova, K. V. Gorgisheli, J. K. Kievskaya |
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| Vol 19, No 12 (2020) |
DNA-methylation analysis of differentially expressed genes in fibroblast cell-lines, derived from monozygotic twins discordant for Parkinson’s disease |
Abstract
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I. N. Rybolovlev, I. N. Vlasov, A. Kh. Alieva, P. A. Slominskiy, M. I. Shadrina |
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| Vol 20, No 10 (2021) |
A maternally inherited Interstitial Xq21 deletion associated with deafness and mental retardation syndrome in a male patient |
Abstract
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Zh. G. Markova, M. E. Minzhenkova, N. A. Demina, N. V. Shilova |
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| Vol 19, No 3 (2020) |
Genetic reproductive risk in pericentric inversion carriers |
Abstract
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N. V. Shilova, A. A. Tarlycheva, Zh. G. Markova, M. E. Minzhenkova, A. O. Lepeshinskaya, H. D. Magomedova |
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| Vol 19, No 3 (2020) |
The use of chromosomal microarray for postnatal diagnosis: a retrospective analysis |
Abstract
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I. . Romanova, I. . Kanivets, D. . Pyankov, S. . Korostelev |
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