| Issue | Title | |
| Vol 12, No 3 (2013) | «TERRITORIAL» APPROACH TO SELECTION OF SURNAMES AT POPULATION AND GENETIC RESEARCH OF THE POPULATION OF THE SOUTH OF THE CENTRAL RUSSIA | Abstract PDF (Rus) |
| I. N. Sorokina, E. N. Krikun, M. I. Churnosov | ||
| Vol 23, No 6 (2024) | SYNPO2L gene rare variants in the development of early myocardial infarction | Abstract PDF (Rus) |
| 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 | ||
| Vol 17, No 10 (2018) | ADCY8 gene methylation in plasma as a predictive marker of breast cancer neoadjuvant chemotherapy | Abstract PDF (Rus) |
| T. V. Kekeeva, T. A. Zhinzhilo, Y. N. Nenakhova, V. K. Lyadov, S. Yu. Bogomazova, V. V. Rudenko, E. B. Kuznetsova, A. S. Tanas, D. V. Zaletaev, V. V. Strelnikov | ||
| Vol 22, No 4 (2023) | ANRIL gene polymorphism and susceptibility to atherosclerosis | Abstract PDF (Eng) |
| S. V. Timofeeva, T. A. Sherchkova, T. P. Shkurat | ||
| Vol 24, No 5 (2025) | ATM and TP53BP1 in cardiovascular diseases | Abstract PDF (Rus) |
| N. P. Babushkina, A. D. Dolbnya, A. E. Postrigan, V. V. Ryabov, A. A. Garganeeva | ||
| Vol 15, No 10 (2016) | BRCA1 and BRCA2 genes: population aspects of breast cancer between Tatar woman | Abstract PDF (Rus) |
| O. I. Brovkina, M. G. Gordiev, L. H. Shigapova, M. O. Druzhkov, E. I. Shagimardanova, R. F. Enikeev, D. S. Khodyrev, O. A. Gusev, A. G. Nikitin | ||
| Vol 24, No 6 (2025) | BRCA1 methylation impacts on the prognosis of patients with high-grade serous ovarian cancer | Abstract |
| T. V. Kekeeva, A. S. Tanas, D. V. Zaletaev, V. V. Strelnikov | ||
| Vol 24, No 8 (2025) | CETP gene polymorphism in Siberian populations | Abstract |
| L. E. Tabikhanova, T. V. Churkina, E. N. Voronina | ||
| Vol 16, No 1 (2017) | CFTR fragment analysis of intron 8 (TG)mTn polymorphism | Abstract PDF (Rus) |
| E. V. Markova, D. A. Tataru, O. G. Preda | ||
| Vol 17, No 5 (2018) | CFTR mutations in male infertility | Abstract PDF (Rus) |
| E. V. Solovyova, D. A. Tataru, O. G. Preda, V. G. Artyukhova, A. G. Sekira, V. Yu. Derevjeva, N. A. Makhalova, A. V. Novoseltseva, I. V. Rendashkin, T. A. Zaitseva, N. V. Keosyan, O. A. Serebrennikova | ||
| Vol 17, No 12 (2018) | GLN1233* nonsens-mutation and ARG326GLN polymorphism of MYBPC3 gene in patients with hypertrophic cardiomyopathy in Belarus | Abstract PDF (Rus) |
| N. N. Chakova, S. S. Niyazova, S. M. Komissarova, M. A. Sasinovich, M. G. Goncharenko | ||
| Vol 23, No 4 (2024) | NOS1 gene polymorphism and risk of postpartum hemorrhage in Uzbek women | Abstract PDF (Rus) |
| U. A. Ashurova, D. K. Najmutdinova, K. T. Boboev | ||
| Vol 23, No 12 (2024) | PIK3CA-related overgrowth spectrum: molecular mechanism, diagnostic and therapy features | Abstract PDF (Rus) |
| E. V. Bychkova, N. A. Semenova, G. B. Sagoyan, D. M. Guseva, V. V. Strelnikov | ||
| Vol 24, No 5 (2025) | RET gene mutations and their importance in targeted therapy of medullary thyroid cancer | Abstract PDF (Rus) |
| N. Kim, A. A. Budaeva, V. V. Zakharov, S. U. Shuipova, I. R. Dishnaev, E. A. Medzhidov, A. A. Zakharenko, M. E. Boriskova, V. D. Nazarov, M. A. Omarov | ||
| Vol 15, No 8 (2016) | STAT4 and CTLA4 genes polymorphism in Belarusian population in view of predisposition to juvenile idiopathic arthritis | Abstract PDF (Rus) |
| A. A. Yatskiv, N. V. Nikitchenko, A. M. Chichko, A. V. Sukalo, R. I. Goncharova | ||
| Vol 24, No 6 (2025) | STRC gene and STRCP1 pseudogene copy number variant analysis in a sample of Yakuts with normal hearing | Abstract |
| V. G. Pshennikova, A. M. Cherdonova, T. V. Borisova, F. M. Teryutin, N. A. Barashkov, S. A. Fedorova | ||
| Vol 16, No 1 (2017) | TNF and LTA gene polymorphisms in cystic fibrosis patients: clinical parameters and inflammatory markers | Abstract PDF (Rus) |
| G. V. Shmarina, D. A. Pukhalskaya, A. M. Bukina, L. V. Avakian, S. U. Semykin, E. L. Amelina, S. A. Krasovskiy, M. V. Usacheva, V. A. Alioshkin | ||
| Vol 22, No 9 (2023) | ZNF350 gene variants and their association with uveal melanoma risk | Abstract PDF (Rus) |
| L. Mukhana, Aissa A. Ait, A. A.M. Ahmed, S. V. Saakyan, A. Iu. Tsygankov, M. M. Azova | ||
| Vol 16, No 10 (2017) | 10 years of neonatal screening in the Republican of Kazakhstan: results and prospects | Abstract PDF (Rus) |
| G. S. Svyatova, D. N. Salimbaeva, M. S. Kirikbaeva, G. M. Berezina | ||
| Vol 24, No 11 (2025) | 46,XY disorders of sex development in adolescents: V.I. Kulakov Center experience | Abstract |
| N. S. Pavlova, P. N. Tsabai, Z. Kh. Kumykova, M. V. Kuznetsova, Z. K. Batyrova, I. A. Kiseleva, F. Sh. Mamedova, A. Yu. Goltsov, V. M. Kirillov, O. O. Leukhina, E. Shubina, D. Yu. Trofimov | ||
| Vol 16, No 5 (2017) | A case of 8p and 18p genetic imbalance in a female patient without pronounced physical and mental abnormalities | Abstract PDF (Rus) |
| A. A. Pendina, O. A. Efimova, O. G. Chiryaeva, O. V. Malysheva, V. S. Dudkina, L. I. Petrova, P. A. Pavlova, A. V. Tikhonov, M. I. Krapivin, A. S. Koltsova, S. E. Parfenyev, E. A. Serebryakova, E. S. Shabanova | ||
| Vol 19, No 10 (2020) | A case of a small supernumerary ring chromosome r(20)(p12q12) in a 3-year-old boy with facial anomalies and speech delay | Abstract PDF (Rus) |
| V. G. Antonenko, D. V. Svetlychnaya, M. E. Minzhenkova, N. V. Shilova, S. G. Kalinenkova | ||
| Vol 19, No 8 (2020) | A case of Allan-Herndon-Dudley syndrome | Abstract PDF (Rus) |
| N. Yu. Vasilkova, T. V. Lukyanova, M. M. Kobets, I. F. Komarkov, A. G. Ryzhikh, V. Yu. Udalova, S. V. Sosnitskaya | ||
| Vol 24, No 9 (2025) | A case of breast cancer patient with Li-Fraumeni syndrome. Management strategies | Abstract |
| Y. Luferova, Y. Karpeichyk, A. Miadzvedz, A. Subach | ||
| Vol 20, No 4 (2021) | A case of deletion 8q22.2q22.3 in a child with de novo balanced translocation t(1;6) | Abstract PDF (Rus) |
| M. E. Minzhenkova, Z. G. Markova, I. V. Anisimova, I. V. Kanivetc, N. V. Shilova | ||
| Vol 18, No 9 (2019) | A case of Emanuel syndrome on a newborn girl with congenital heart defect | Abstract PDF (Rus) |
| V. G. Antonenko, D. V. Svetlychnaya, N. V. Djurcova, N. A. Haritonova, N. V. Shilova | ||
| Vol 23, No 5 (2024) | A case of hypertripsinogenemia with partial trisomy 13 | Abstract PDF (Rus) |
| A. R. Repnikova, G. V. Prokoptseva, Mi Dya Kim, G. R. Galiullina, E. I. Kostirko, M. S. Samsonenko | ||
| 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) |
| V. G. Antonenko, N. V. Markova, J. G. Markova, E. V. Musatova, Yu. O. Kozlova, N. V. Shilova | ||
| Vol 25, No 1 (2026) | A case of MYH3-associated contractures, pterygias and spondylocarpotarsal fusion syndrome type 1B (CPSFS1B): an example of the limitations of next-generation sequencing | Abstract |
| A. S. Abuzova, Y. A. Demchuk, S. A. Laptiev, P. R. Korzun, D. O. Binnatova, T. V. Kharchenko, D. L. Strekalov, C. S. Malysheva, P. V. Navrotskaya, E. N. Suspitsin, E. N. Imyanitov | ||
| Vol 25, No 5 (2026) | A clinical case of congenital chronic kidney disease with Potter syndrome caused by mutations in the WT1 gene | Abstract |
| G. V. Drozdov | ||
| Vol 25, No 6 (2026) | A clinical case of familial hypercholesterolemia associated with a previously undescribed variant in the LDLR gene | Abstract |
| S. A. Urazgildeeva, A. D. Izyumchenko, K. V. Dracheva, V. V. Miroshnikova | ||
| Vol 19, No 3 (2020) | A clinical case of prenatal trisomy 2 | Abstract |
| O. E. Talantova, E. A. Serebryakova, O. V. Malysheva, A. V. Tikhonov, E. S. Shabanova, O. A. Efimova, O. G. Chiryaeva, V. S. Prokhorova, A. S. Glotov | ||
| Vol 23, No 12 (2024) | A clinical case of rare mucopolysaccharidosis type IIIC | Abstract PDF (Rus) |
| E. A. Fonova, O. A. Salukova, N. A. Skryabin, G. N. Seitova, L. P. Nazarenko | ||
| Vol 19, No 4 (2020) | A difficult path to the diagnosis of hereditary polysystemic diseases as an example of a clinical case | Abstract |
| Yu. V. Maksimova, M. A. Vasilieva, V. N. Maksimov | ||
| Vol 17, No 6 (2018) | A familial complex chromosomal rearrangement involving chromosomes 2, 3, 18: phenotypic effects and the importance of a complex molecular cytogenetics study | Abstract PDF (Rus) |
| M. E. Minzhenkova, Z. G. Markova, L. A. Bessonova, N. V. Shilova | ||
| Vol 19, No 8 (2020) | A high frequency of the PAX6 gene 3'-cis-regulatory region deletions in Russian aniridia patients | Abstract PDF (Rus) |
| T. A. Vasilyeva, A. V. Marakhonov, V. V. Kadyshev, R. A. Zinchenko | ||
| Vol 20, No 10 (2021) | A maternally inherited Interstitial Xq21 deletion associated with deafness and mental retardation syndrome in a male patient | Abstract PDF (Rus) |
| Zh. G. Markova, M. E. Minzhenkova, N. A. Demina, N. V. Shilova | ||
| Vol 24, No 10 (2025) | A molecular cytogenetic approach to the diagnosis of complex chromosomal rearrangement between chromosomes 4, 13, 5 | Abstract |
| M. M. Antonova, N. Yu. Kuzina, A. E. Voskanyan, A. S. Iakovleva, N. V. Shilova | ||
| Vol 24, No 11 (2025) | A multilevel model for assessing the risk of prereproductive mortality of offspring in human populations | Abstract |
| D. A. Ginevskiy, P. V. Izhevskiy | ||
| Vol 18, No 6 (2019) | A new allelic variant of periventricular nodular heterotopia type 7 in a patient with adrenogenital syndrome due to a 21-hydroxylase deficiency | Abstract PDF (Rus) |
| E. L. Dadali, T. V. Markova, A. O. Borovikov, A. L. Chukhrova, N. N. Wasserman, O. A. Schagina | ||
| 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 |
| T. B. Cherevatova, L. A. Bessonova, O. P. Ryzhkova | ||
| Vol 24, No 6 (2025) | A new look at known syndromes: Angelman-Rett-like phenotype, interpretation of genetic testing results | Abstract |
| S. V. Golubeva, E. G. Trebka | ||
| Vol 24, No 9 (2025) | A new spectrum of phenylalanine hydroxylase gene variants in newborns with hyperphenylalaninaemia: results of the first two years of expanded neonatal screening in Russia | Abstract |
| E. E. Lotnik, A. L. Chukhrova, N. V. Ryadninskaya, V. A. Kadnikova, E. Y. Zakharova, G. V. Baidakova, A. R. Osadchii, S. V. Voronin, A. V. Polyakov, O. A. Shchagina | ||
| Vol 19, No 8 (2020) | A novel compound heterozygous variant in NBAS causing bone fragility by the type of osteogenesis imperfecta | Abstract PDF (Rus) |
| D. A. Petukhova, E. E. Gurinova, A. L. Sukhomyasova, N. R. Maksimova | ||
| Vol 18, No 10 (2019) | A novel nonsense mutation c.1121G>A (p.Trp374*) in the CLIC5 gene is the main cause of the juvenile autosomal recessive form of deafness (DFNB103) in the Arctic regions of Yakutia | Abstract PDF (Rus) |
| V. G. Pshennikova, G. P. Romanov, T. M. Nikolaeva, F. M. Teryutin, T. V. Borisova, I. F. Komar’Kov, A. V. Antonets, A. V. Solovyev, L. A. Klarov, A. A. Bondar, I. V. Morozov, O. L. Posukh, E. K. Khusnutdinova, S. A. Fedorova, N. A. Barashkov | ||
| Vol 22, No 3 (2023) | A novel nonsense variant in the CHD7 gene in a patient with CHARGE syndrome in Yakutia | Abstract PDF (Rus) |
| L. A. Klarov, V. G. Pshennikova, F. M. Teryutin, N. V. Luginov, P. M. Kotlyarov, N. A. Barashkov | ||
| Vol 19, No 8 (2020) | A pilot study on ethical issues in genetic counseling | Abstract PDF (Rus) |
| G. Yu. Zobkova, E. E. Baranova, V. L. Izhevskaya | ||
| Vol 17, No 6 (2018) | A rare case of familial adenomatous polyposis | Abstract PDF (Rus) |
| T. A. Muzaffarova, D. J. Mansorunov, F. M. Kipkeeva, A. A. Alimov, A. V. Karpukhin | ||
| Vol 16, No 8 (2017) | A rare case of Xq rearrangement - inverted duplication/deletion in a woman with gonadal dysgenesis | Abstract PDF (Rus) |
| V. G. Antonenko, Zh. G. Markova, N. V. Shilova, A. V. Glazkova, Yu. V. Tsayuk, O. V. Petrova | ||
| Vol 24, No 12 (2025) | A rare form of familial aortic aneurysm: clinical case and features of medical and genetic counseling. | Abstract |
| E. V. Zaklyazminskaya, L. R. Dzik, M. S. Balashova, V. V. Aminov | ||
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Editor-in-Chief
E.K. Ginter
Keywords
DNA methylation
FISH
MLPA
NGS
Parkinson’s disease
SNP
atherosclerosis
breast cancer
chromosomal abnormalities
cystic fibrosis
genetic polymorphism
male infertility
microRNA
mutation
mutations
polymorphism
prenatal diagnosis
schizophrenia
sequencing
single nucleotide polymorphism
полиморфизм
115478, Moscow, Moskvorechiye street, 1.
Tel.: +7(499) 612-80-25; 612-81-07;
e-mail: L_Tarlycheva@med-gen.ru
