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| Issue |
Title |
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| Vol 24, No 10 (2025) |
Study of triple DNA/PEI complexes with anionic peptide coating as vehicles of genetic constructs delivery to muscle tissues |
Abstract
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S. V. Shtykalova, A. A. Egorova, M. I. Yarmolinskaya, A. V. Kiselev |
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| Vol 24, No 10 (2025) |
Monitoring and management of patients with inherited metabolic disorders identified through extended neonatal screening |
Abstract
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A. N. Kolchina, Kh. F. Aksyanova, A. V. Grigorieva, O. V. Khaletskaya |
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| Vol 24, No 10 (2025) |
The contribution of extended neonatal screening to the establishment of mitochondrial DNA depletion syndrome-5 |
Abstract
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D. B. Kochkina, A. A. Sivtsev, N. R. Everstova, V. M. Sofronova, A. N. Luginova, I. A. Nikolaeva, R. N. Ivanova, E. E. Gurinova, A. L. Sukhomyasovа, N. R. Maximova |
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| Vol 24, No 10 (2025) |
Features of the clinical course of vulgar ichthyosis: description of a clinical case |
Abstract
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O. R. Lenina, S. A. Pankratova, T. A. Vasilyeva, A. V. Marakhonov, R. A. Zinchenko |
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| Vol 24, No 10 (2025) |
Normal karyotype and cryptic reciprocal translocations in infertility |
Abstract
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L. I. Minaycheva, A. D. Cheremnykh, S. L. Vovk, Y. S. Yakovleva, G. N. Seitova |
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| Vol 24, No 10 (2025) |
Diagnostic aspects in the patients with mosaic form of hereditary cancer syndromes |
Abstract
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D. S. Mikhaylenko, E. A. Alekseeva, N. B. Kuryakova, O. V. Babenko, E. B. Kuznetsova, A. V. Efremova, I. V. Volodin, V. V. Musatova, D. V. Zaletaev, V. V. Strelnikov |
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| Vol 24, No 10 (2025) |
Familial hypobetalipoproteinemia: spectrum of variants and phenotypic manifestations |
Abstract
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V. I. Mikhailina, A. N. Meshkov, M. Zaichenoka, A. V. Kiseleva, O. M. Drapkina |
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| Vol 24, No 10 (2025) |
Informing the clinically healthy population about the genetic risks identified based on the results of the whole genome sequencing |
Abstract
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O. S. Musharova, A. S. Monakhova, Y. M. Suvorova, N. N. Chekanov, I. V. Antonov, E. K. Moskovkina, A. S. Karunas, E. I. Klimuk, K. V. Severinov |
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| Vol 24, No 10 (2025) |
Development and implementation of diagnostic testing technology for rare ethnospecific genetic diseases |
Abstract
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S. N. Novgorodova, V. M. Sofronova, N. R. Everstova, A. A. Maksimova, L. R. Zhozhikov, A. A. Guriev, A. N. Sleptsov, A. N. Luginova, D. B. Kochkina, P. I. Golikova, M. T. Savvina, A. L. Sukhomyasova, N. R. Maksimova |
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| Vol 24, No 10 (2025) |
Double Trouble: Phelan-McDermid syndrome and Robinow syndrome |
Abstract
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M. D. Orlova, E. A. Shestopalova, Z. G. Markova, O. P. Ryzhkova |
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| Vol 24, No 10 (2025) |
Optimization of ways to provide medical and genetic assistance to families with congenital malformations and hereditary pathology in the population of the Republic of North Ossetia-Alania |
Abstract
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I. S. Tebieva, V. V. Kadyshev, A. F. Murtazina, A. O. Borovikov, A. V. Perepelov, Y. V. Gabisova, A. V. Chochova, R. A. Zinchenko |
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| Vol 24, No 10 (2025) |
Combined cytogenomic and exome screening of patients with intellectual disabilities |
Abstract
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E. A. Fonova, A. A. Kashevarova, A. S. Zuev, I. Zh. Zhalsanova, A. A. Zarubin, N. A. Skryabin, M. E. Lopatkina, D. A. Fedotov, O. Yu. Vasilieva, L. I. Minaycheva, O. A. Salyukova, E. O. Belyaeva, V. V. Petrova, E. G. Ravzhaeva, V. M. Sivoha, S. V. Fadyushina, G. N. Seitova, I. N. Lebedev |
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| Vol 24, No 10 (2025) |
An Original Approach to Identifying Genomic Loci Associated with Polygenic Diseases Based on Random Forest and Resampling |
Abstract
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G. V. Khvorykh, N. A. Sapozhnikov, S. A. Limborska, A. V. Khrunin |
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| Vol 24, No 10 (2025) |
Search for genetic markers of ischemic stroke by studying of human orthologues of rat genes expressed differentially in experimental brain ischemia |
Abstract
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A. V. Khrunin, G. V. Khvorykh, S. A. Limborska |
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| Vol 24, No 10 (2025) |
A new large deletion at 1q24.3q25.3 locus in a patient with growth hormone deficiency and natural anticoagulants deficiency |
Abstract
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T. B. Cherevatova, L. A. Bessonova, O. P. Ryzhkova |
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| Vol 24, No 10 (2025) |
Mosaic tetrasomy 13q in the differential diagnosis of hypomelanosis of Ito. |
Abstract
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N. V. Shilova, Zh. G. Markova, V. Yu. Tabakov |
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| Vol 24, No 10 (2025) |
Polymorphic variants of DNAJA3 and DNAJB2 genes are associated with age of ischemic stroke manifestation, level of total cholesterol and hemocoagulation parameters |
Abstract
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K. A. Kobzeva |
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| Vol 24, No 10 (2025) |
The effectiveness of the ketogenic diet in children with pyruvate dehydrogenase complex deficiency |
Abstract
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I. N. Artamonova, E. A. Mamaeva, N. Yu. Kolbina, T. M. Pervunina |
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| Vol 24, No 10 (2025) |
Predictive efficiency of transcriptome analysis for identifying modifier genes in Parkinson’s disease associated with GBA1 mutations |
Abstract
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A. I. Bezrukova, K. S. Basharova, I. V. Miliukhina, S. N. Pchelina, T. S. Usenko |
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| Vol 24, No 10 (2025) |
Utility of whole exome sequencing in the etiological evaluation of nonimmune hydrops fetalis |
Abstract
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A. S. Bolshakova, J. Shubina, E. R. Tolmacheva, D. N. Maslennikov, D. G. Lyushnina, I. O. Sadelov, N. V. Zaretskaya, I. Yu. Barkov, A. A. Dokshukina, D. Yu. Trofimov |
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| Vol 24, No 10 (2025) |
Associations of haplotypes in the sarcomeric genes with echocardiographic parameters in hypertrophic cardiomyopathy |
Abstract
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N. R. Valiakhmetov, E. R. Shaidurova, M. V. Golubenko |
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| Vol 24, No 10 (2025) |
Application of whole-genome sequencing in the diagnosis of spinocerebellar ataxia type 8 |
Abstract
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T. V. Vizerov, K. G. Zabudskaya, E. A. Melnik, A. S. Kuchina, O. R. Ismagilova, N. S. Beskorovayny, A. V. Polyakov, O. P. Ryzhkova |
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| Vol 24, No 10 (2025) |
The first diagnostics of the syndrome «renal dysplasia with retinal degeneration» (Senior-Loken syndrome1) based on the NGS technology in the Russian Federation |
Abstract
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V. A. Galkina, F. A. Konovalov, A. V. Marakhonov, T. A. Vasilyeva, V. V. Kadyshev, R. A. Zynchenko |
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| Vol 24, No 10 (2025) |
Determination of clinically significant Gilbert syndrome genotype using machine learning tools based on routine laboratory tests |
Abstract
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R. R. Gimadiev, A. V. Radchenko, O. I. Tarasova, N. V. Mazurchik, V. A. Kokorin, N. I. Stuklov, E. V. Gubina, S. V. Chausova, N. A. Mayanskij, O. B. Shchegolev |
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| Vol 24, No 10 (2025) |
Polymorphisms of the gamma-glutamyltransferase 1 (GGT1) gene and ischemic heart disease: association with predisposition and lesions of coronary arteries |
Abstract
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M. F. Grigoryan, S. I. Kononov, E. L. Drozdova, A. A. Polonikova, Iu. E. Azarova, O. Yu. Bushueva, A. V. Polonikov |
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| Vol 24, No 10 (2025) |
Clinical case of galactosemia type III |
Abstract
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V. V. Gyrlya, T. M. Maryashina, M. M. Skleimova, D. S. Orlov, A. V. Guselnikova, G. V. Drozdov, L. I. Minaycheva, A. A. Nikitina, A. F. Garaeva, G. N. Seitova |
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| Vol 24, No 10 (2025) |
Gender-specific associations of polymorphic variant rs8140505 of the GGT5 gene with the risk of ischemic stroke in residents of Central Russia |
Abstract
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E. L. Drozdova |
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| Vol 24, No 10 (2025) |
Study of electrostatically stabilized nucleopeptide complexes for DNA delivery into muscle cells |
Abstract
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A. A. Egorova, I. Y. Kogan, A. V. Kiselev |
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| Vol 24, No 10 (2025) |
Biochemical characteristics of hereditary forms of synucleinopathies |
Abstract
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A. K. Emelyanov, T. S. Usenko, A. E. Kopytova, I. O. Bychkov, A. O. Lavrinova, M. A. Nikolaev, A. F. Yakimovskii, I. V. Miliukhina, A. A. Timofeeva, A. V. Amelin, S. N. Pchelina |
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| Vol 24, No 10 (2025) |
Production of DNA libraries for preimplantation genetic testing of aneuploidies using whole-genome amplification based on multiple-strand displacement amplification |
Abstract
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D. I. Zhigalina, I. Zh. Zhalsanova, S. N. Gosudarkina, O. R. Kanbekova, N. A. Skryabin |
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| Vol 24, No 10 (2025) |
Achievements in molecular diagnosis of albinism: the use of various methods and evaluating their effectiveness |
Abstract
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S. A. Ionova, A. V. Marakhonov, T. A. Vasilyeva, A. A. Stepanova, O. A. Schagina, V. V. Kadyshev, R. A. Zinchenko |
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| Vol 24, No 10 (2025) |
Targeted delivery of anti-VEGF siRNAs by means of nucleopeptide complexes in a rat model of endometriosis |
Abstract
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A. V. Kiselev, M. I. Yarmolinskaya, A. A. Egorova |
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| Vol 24, No 10 (2025) |
A molecular cytogenetic approach to the diagnosis of complex chromosomal rearrangement between chromosomes 4, 13, 5 |
Abstract
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M. M. Antonova, N. Yu. Kuzina, A. E. Voskanyan, A. S. Iakovleva, N. V. Shilova |
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| Vol 24, No 10 (2025) |
The contribution of aminopeptidase gene polymorphism and environmental risk factors to the determination of predisposition to type 2 diabetes mellitus |
Abstract
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I. E. Azarova, I. E. Korvyakova, A. V. Polonikov |
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| Vol 24, No 10 (2025) |
Analysis of association of polymorphic loci rs1625895 и rs1042522 of gene TP53 with the risk of developing ovarian cancer |
Abstract
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E. T. Aminova, Yu. Yu. Fedorova, E. A. Andreeva, Ya. V. Valova, A. Kh. Nurgalieva, R. R. Faishkhanova, I. R. Zagitov, A. R. Romanova, D. D. Sakaeva, E. K. Khusnutdinova, D. S. Prokofieva |
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| Vol 24, No 9 (2025) |
Multivariate analysis and genetic-morphological method for predicting ventral hernias |
Abstract
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A. V. Tsukanov, I. S. Ivanov, O. Yu. Bushueva, E. I. Goryushkin |
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| Vol 24, No 9 (2025) |
Complex X-chromosome mosaicism with pronounced inter-tissue differences in a patient with secondary recurrent pregnancy loss |
Abstract
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M. I. Shtaut, O. A. Solovova, N. V. Shilova, V. B. Chernykh |
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| Vol 24, No 9 (2025) |
Age Differences in Drug Coverage for Patients with Rare Diseases Included in the Lists Approved by Government Decree No. 769 dated May 21, 2021 |
Abstract
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E. Yu. Shukan, N. S. Smirnova, R. A. Zinchenko |
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| Vol 24, No 9 (2025) |
Genome and chromosome instability in children with neurodevelopmental disorders |
Abstract
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I. Y. Iourov, S. G. Vorsanova, O. S. Kurinnaia, I. A. Demidova, A. D. Kolotii, K. S. Vasin, M. E. Iuditskaia, E. S. Karpachev, A. F. Bobkov, N. S. Iakushev, J. A. Chaika, Y. B. Yurov |
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| Vol 24, No 9 (2025) |
Analyzing Binding Sites of EXT1, EXT2, PTPN11 and FUT7 in the Context of Multiple Hereditary Exostoses Pathogenesis Using AlphaFold |
Abstract
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A. E. Yakovleva, D. N. Lebed, A. L. Sukhomyasova, L. R. Zhozhikov, N. R. Maksimova |
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| Vol 24, No 9 (2025) |
Detection of intragenic deletions in the DMD gene using chromosomal microarray analysis in a patient without clinical manifestations of muscular dystrophy |
Abstract
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A. S. Iakovleva, Zh. G. Markova, A. E. Voskanyan, M. M. Antonova, N. V. Shilova |
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| Vol 24, No 9 (2025) |
Genetic variants associated with hemostatic disorders in patients seeking medical care in a multidisciplinary medical hospital |
Abstract
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O. V. Sirotkina, M. V. Kolegova, E. Yu. Vasilyeva, T. V. Vavilova |
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| Vol 24, No 9 (2025) |
Change in the number of trinucleotide repeats in the ATXN1 gene in human embryos |
Abstract
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M. M. Skleimova, E. V. Soloveva, L. I. Minaycheva, A. F. Garaeva, E. O. Churkin, Y. V. Okkel, D. I. Zhigalina, G. N. Seitova, V. A. Stepanov |
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| Vol 24, No 9 (2025) |
Results of GALT gene common mutations testing at the Tomsk Research Institute of Medical Genetics |
Abstract
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E. V. Soloveva, M. M. Skleimova, A F. Garaeva, L. I. Minaycheva, O. A. Salukova, S. L. Vovk, L. I. Didenko, A. A. Nikitina, G. N. Seitova |
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| Vol 24, No 9 (2025) |
Estimation of carrier frequencies of variants in genes associated with autosomal recessive diseases to form a gene list for expanded carrier screening |
Abstract
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E. A. Sotnikova, A. V. Kiseleva, V. A. Kutsenko, A. I. Ershova, O. M. Drapkina, A. N. Meshkov |
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| Vol 24, No 9 (2025) |
True inter-tissue chromosomal mosaicism in a human blastocyst: problems of interpretation of preimplantation genetic testing results |
Abstract
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A. V. Tikhonov, O. A Efimova, O. V. Malysheva, E. M. Komarova, N. I. Tapilskaya, A. A. Pendina |
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| Vol 24, No 9 (2025) |
Expression level of genes encoding components of the purinergic pathway and cryopyrin in essential arterial hypertension |
Abstract
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L. V. Topchieva, V. A. Korneva, D. A. Atorin, G. A. Zhulai, I. V. Kurbatova |
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| Vol 24, No 9 (2025) |
Increased frequency of coilin-containing spermatogenic cells is associated with AZF deletions in azoospermic patients |
Abstract
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E. D. Trusova, M. I. Krapivin, D. A. Staroverov, Y. M. Sagurova, E. M. Komarova, O. A. Efimova, A. A. Pendina |
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| Vol 24, No 9 (2025) |
Issues of teaching medical genetics in the first year of a medical university |
Abstract
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N. A. Tsvetkova, A. B. Vinogradov, T. D. Afonina, E. A. Loginova, O. A. Shavshukova, L. A. Hlyzova |
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| Vol 24, No 9 (2025) |
Analysis of HERV-K (HML2) expression in colorectal cancer samples |
Abstract
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V. S. Obrezanenko, A. S. Makarova, A. A. Primova, A. D. Kikot, D. A. Tarasova, E. S. Bolashova, A. A. Ivashechkin, A. V. Makhotenko, E. A. Snigir, K. S. Grammatikati, S. I. Mitrofanov, O. A. Kuznetsova, M. Y. Fedyanin, A. A. Tryakin, V. V. Makarov, V. S. Yudin, A. A. Keskinov |
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