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| Issue |
Title |
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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
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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) |
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 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 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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| Vol 23, No 9 (2024) |
Molecular genetic diagnosis of mosaic forms using duplex-specific nuclease in patients with PIK3CA-related overgrowth spectrum |
Abstract
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A. V. Pustovalova, A. F. Nikolaeva, K. O. Petrova, E. V. Bychkova, V. O. Sigin, V. V. Strelnikov |
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| Vol 23, No 10 (2024) |
The prevalence of DNA base excision repair gene variants among the Eastern Khants population |
Abstract
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S. V. Makarov, V. A. Spitsyn, N. Kh. Spitsyna |
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| Vol 23, No 9 (2024) |
Variant modifier of the severity of spinal muscular atrophy 5q C.859G>C SMN2 in Russian patients |
Abstract
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E. E. Lotnik, M. A. Akhkiamova, V. V. Zabnenkova, K. A. Mikhalchuk, A. V. Polyakov, O. A. Schagina |
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| Vol 23, No 8 (2024) |
Indirect diagnostics of type 1 Rubinstein-Taybi syndrome using methods of targeted analysis of DNA methylation level |
Abstract
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O. A. Zemlianaia, A. I. Kalinkin, A. S. Tanas, A. V. Efremova, O. R. Ismagilova, D. V. Zaletaev, V. V. Strelnikov |
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| Vol 23, No 8 (2024) |
Assessment of variability in the genetic load of orphan hereditary diseases in the populations of the Republic of North Ossetia – Alania |
Abstract
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R. A. Zinchenko, I. V. Tebieva, V. V. Kadyshev, A. F. Murtazina, A. O. Borovikov, G. I. Elchinova, V. A. Galkina, A. V. Marakhonov, A. V. Perepelov, S. S. Amelina, S. I. Kutsev, E. K. Ginter |
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| Vol 23, No 8 (2024) |
Single guide RNAs screening for restoring the reading frame of the DMD gene by genome editing |
Abstract
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O. A. Levchenko, K. S. Kochergin-Nikitsky, I. O. Panchuk, O. V. Volodina, S. E. Nagieva, E. V. Kurshakova, I. O. Petrova, S. A. Smirnikhina, A. V. Lavrov |
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| Vol 23, No 8 (2024) |
FSHR and LHCGR gene-gene interactions are associated with the risk of anovulation in women of the Rostov region (Russia) |
Abstract
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O. V. Lyangasova, S. V. Lomteva, K. Yu. Sagamonova, T. P. Shkurat |
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| Vol 23, No 8 (2024) |
Tissue specificity of somatic mosaicism in constitutional trisomy of chromosome 8 |
Abstract
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N. V. Shilova, M. E. Minzhenkova, Zh. G. Markova, P. A. Vasiliev, V. Yu. Tabakov, G. N. Matuschenko |
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| Vol 23, No 7 (2024) |
Potentially actionable pathogenic genetic variants in PROS (PIK3CA-related overgrowth spectrum) |
Abstract
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E. V. Bychkova, N. A. Semenova, G. B. Sagoyan, R. A. Khagurov, D. M. Guseva, I. V. Volodin, A. S. Smirnov, V. V. Strelnikov |
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| Vol 23, No 7 (2024) |
Predictive diagnosis of cystic fibrosis: survey results from physicians and parents of patients |
Abstract
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E. I. Kondratyeva, I. R. Fatkhullina, V. L. Izhevskaya, A. S. Glotov, V. B. Chernykh, O. O. Poletaeva, V. D. Sherman, V. V. Shadrina, T. A. Kiyan |
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| Vol 23, No 7 (2024) |
The optimized method for identifying copy number variation (CNV) at the STRC locus |
Abstract
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V. G. Pshennikova, A. M. Cherdonova, T. V. Borisova, F. M. Teryutin, N. A. Barashkov, S. A. Fedorova |
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| Vol 23, No 7 (2024) |
Mutational status of BRAF, NRAS genes in tumor material of patients diagnosed with cutaneous 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 23, No 6 (2024) |
Pilot association of common NOS3 variants with Preeclampsia risk in Russian pregnant women from Rostov region |
Abstract
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N. N. Alayasa, T. P. Shkurat |
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| Vol 23, No 6 (2024) |
SYNPO2L gene rare variants in the development of early myocardial infarction |
Abstract
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V. V. Miroshnikova, K. V. Dracheva, L. G. Danilov, M. Yu. Donnikov, A. S. Vorobev, A. V. Morozkina, A. D. Izumchenko, A. V. Kusakin, Yu. А. Eismont, L. V. Kovalenko, I. A. Urvantseva, O. S. Glotov, S. N. Pchelina |
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| Vol 23, No 6 (2024) |
Mitochondrial myopathy due to thymidine kinase 2 deficiency (TK2). Diagnosis and the results of selective screening |
Abstract
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P. G. Tsygankova, D. V. Kistol, P. A. Chausova, E. Y. Zakharova |
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| Vol 23, No 6 (2024) |
New variants in the genes of connective tissue components in a patient with ascending aortic aneurysm |
Abstract
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S. A. Shipulina, I. A. Goncharova, A. A. Sleptcov, D. S. Panfilov, E. V. Lelik, B. N. Kozlov, M. S. Nazarenko |
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| Vol 23, No 5 (2024) |
Association of IL 6 rs1800795 genetic variation with the susceptibility and severity of COVID-19: A meta-analysis |
Abstract
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E. S. Ivanova, M. A. Eid, T. P. Shkurat |
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| Vol 23, No 5 (2024) |
Newborn screening for severe combine immunodeficiency: first year results in Krasnodar region |
Abstract
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S. A. Matulevich, S. Y. Pseush, P. D. Lashevich, L. V. Zinchenko, M. V. Senkina, E. A. Brovko |
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| Vol 23, No 5 (2024) |
Results of epidemiological monitoring of congenital malformations in the Republic of North Ossetia-Alania |
Abstract
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I. S. Tebieva, Y. V. Gabisova, N. S. Demikova, R. A. Zinchenko |
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| Vol 23, No 5 (2024) |
Analysis of the rs6265 polymorphism of the BDNF gene distribution in patients with vibration disease |
Abstract
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G. M. Bodienkova, M. O. Shchepina |
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| Vol 23, No 3 (2024) |
Characterization of mutations in the FBN1 gene and assessment of their pathogenic status in patients with Marfan syndrome |
Abstract
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N. N. Chakova, A. S. Rudoy, E. A. Burak, Y. I. Valiuzhenich, T. V. Dolmatovich, S. S. Niyazova |
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| Vol 23, No 4 (2024) |
NOS1 gene polymorphism and risk of postpartum hemorrhage in Uzbek women |
Abstract
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U. A. Ashurova, D. K. Najmutdinova, K. T. Boboev |
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| Vol 23, No 4 (2024) |
Clinical significance of the size of nucleotide expansion of the HTT gene in patients with Huntington’s disease |
Abstract
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E. A. Deviatkina, V. D. Nazarov, D. V. Sidorenko, A. K. Musonova, S. V. Lapin, T. V. Blinova, E. A. Surkova |
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| Vol 23, No 4 (2024) |
Population frequencies of facial clefts in regions of the Russian Federation |
Abstract
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N. S. Demikova, A. N. Putintsev |
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| Vol 23, No 4 (2024) |
Effects of GSTP1 and GPX4 genetic variants and their gene-gene interaction on the severity of COVID-19 |
Abstract
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M. A. Eid, A. A. Aleksandrova, S. A. Zatonsky, L. V. Gutnikova, T. P. Shkurat |
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