Научные публикации

2023

  • 1. Kekeeva T, Andreeva Y, Tanas A, Kalinkin A, Khokhlova S, Tikhomirova T, Tyulyandina A, Popov A, Kuzmenko M, Volkonsky M, Chernorubashkina N. HRD Testing of Ovarian Cancer in Routine Practice: What Are We Dealing With?. International Journal of Molecular Sciences. 2023 Jun 22;24(13):10497.
    Скачать PDF 915 кБ
  • 3. Shchagina O, Orlova M, Murtazina A, Filatova A, Skoblov M, Dadali E. Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy. International Journal of Molecular Sciences. 2023 Jun 6;24(12):9786.
    Скачать PDF 967 кБ
  • 4. Shchagina, Olga, Elena Gracheva, Alyona Chukhrova, Elena Bliznets, Igor Bychkov, Sergey Kutsev, and Aleksander Polyakov. 2024. "Functional Characterization of Two Novel Intron 4 SERPING1 Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema" Biomedicines 12, no. 1: 72.
    Скачать PDF 2 МБ
  • 5. Levchenko O, Filatova A, Mishina I, Antonenko A, Skoblov M. Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report. Frontiers in Genetics. 2023;14.
    Скачать PDF 1 МБ
  • 6. Murtazina A, Borovikov A, Kuchina A, Ovsova O, Bulakh M, Chukhrova A, Braslavskaya S, Ryzhkova O, Skryabin N, Kutsev S, Dadali E. Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3. International Journal of Molecular Sciences. 2023 Dec 21;25(1):129.
    Скачать PDF 3 МБ
  • 7. Vasilyeva TA, Sukhanova NV, Khalanskaya OV, Marakhonov AV, Prokhorov NS, Kadyshev VV, Skryabin NA, Kutsev SI, Zinchenko RA. An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280. 4: c. 341A> G, p.(Asn114Ser). Current Issues in Molecular Biology. 2023 Dec 22;46(1):96-105.
    Скачать PDF 584 кБ
  • 8. Petrova N, Tebieva I, Kadyshev V, Getoeva Z, Balinova N, Marakhonov A, Vasilyeva T, Ginter E, Kutsev S, Zinchenko R. Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania. PeerJ. 2023 Jan 30;11:e14514.
    Скачать PDF 1 МБ
  • 9. Baydakova GV, Tsygankova PG, Pechatnikova NL, Bazhanova OA, Nazarenko YD, Zakharova EY. New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. International Journal of Neonatal Screening. 2023 Aug 25;9(3):48.
    Скачать PDF 496 кБ
  • 10. Krasnova M, Efremova A, Bukhonin A, Zhekaite E, Bukharova T, Melyanovskaya Y, Goldshtein D, Kondratyeva E. The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy. International Journal of Molecular Sciences. 2023 Dec 21;25(1):114.
    Скачать PDF 528 кБ
  • 11. Kondrateva E, Grigorieva O, Kurshakova E, Panchuk I, Pozhitnova V, Voronina E, Tabakov V, Orlova M, Lavrov A, Smirnikhina S, Kutsev S. Generation of induced pluripotent stem cell line (RCMGi009-A) from urine cells of patient with fibrodysplasia ossificans progressiva. Stem Cell Research. 2023 Jun 7:103133.
    Скачать PDF 2 МБ
  • 12. Panchuk IO, Grigorieva OV, Kondrateva EV, Kurshakova EV, Tabakov V, Bychkov IO, Zakharova E, Orlova MD, Voronina ES, Pozhitnova VO, Lavrov AV. Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12. Stem Cell Research. 2023 Sep 1;71:103183.
    Скачать PDF 4 МБ
  • 13. Kondrateva E, Grigorieva O, Panchuk I, Bychkov I, Zakharova E, Tabakov V, Pozhitnova V, Voronina E, Shchagina O, Lavrov A, Smirnikhina S. Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI. Stem Cell Research. 2023 Dec 1;73:103259.
    Скачать PDF 4 МБ
  • 14. Zhalsanova IZ, Postrigan AE, Valiakhmetov NR, Kolesnikov NA, Zhigalina DI, Zarubin AA, Petrova VV, Minaycheva LI, Seitova GN, Skryabin NA, Stepanov VA. Case Report: A Novel Homozygous Variant of the SERPINF1 Gene in Rare Osteogenesis Imperfecta Type VI. International Journal of Molecular Sciences. 2023 Apr 3;24(7):6672.
    Скачать PDF 3 МБ
  • 15. Коталевская ЮЮ, Степанов ВА. Молекулярно-генетические основы буллезного эпидермолиза. Вавиловский журнал генетики и селекции. 2023 Mar 6;27(1):18-27.
    Скачать PDF 780 кБ

2022

  • 1. Voskoboeva EY, Bookina TM, Semyachkina AN, Mikhaylova SV, Vashakmadze ND, Baydakova GV, Zakharova EY, Kutsev SI. Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology. Frontiers in Molecular Biosciences. 2021;8. (Квартиль издания - Q1)
    Скачать PDF 1 МБ
  • 2. Voskoboeva E, Semyachkina A, Miklyaev O, Gamzatova A, Mikhaylova S, Vashakmadze N, Baydakova G, Omzar O, Pichkur N, Zakharova E, Kutsev S. Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia. Frontiers in Molecular Biosciences. 2022 Jan 18;8:780184. (Квартиль издания - Q1)
    Скачать PDF 1 МБ
  • 3. Petrova NV, Kashirskaya NY, Vasilyeva TA, Balinova NV, Marakhonov AV, Kondratyeva EI, Zhekaite EK, Voronkova AY, Kutsev SI, Zinchenko RA. High frequency of complex CFTR alleles associated with c. 1521_1523delCTT (F508del) in Russian cystic fibrosis patients. BMC genomics. 2022 Dec;23(1):1-6. (Квартиль издания - Q2)
    Скачать PDF 896 кБ
  • 4. Sharkov A, Sparber P, Stepanova A, Pyankov D, Korostelev S, Skoblov M. Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene. Frontiers in genetics. 2022;13. (Квартиль издания - Q2)
    Скачать PDF 1 МБ
  • 5. Panchuk I, Kondrateva E, Demchenko A, Grigorieva O, Erofeeva A, Amelina E, Tabakov V, Orlova M, Voronina E, Pozhitnova V, Lavrov A. Generation of two induced pluripotent stem cell lines (RCMGi005-A/B) from human skin fibroblasts of a cystic fibrosis patient with homozygous F508del mutation in CFTR gene. Stem Cell Research. 2022 Oct 1;64:102896. (Квартиль издания - Q4)
    Скачать PDF 4 МБ
  • 6. Kondrateva E, Panchuk I, Demchenko A, Grigorieva O, Zheglo D, Voronina E, Erofeeva A, Tabakov V, Orlova M, Lavrov A, Smirnikhina S. Generation of induced pluripotent stem cell line (RCMGi008-A) from human skin fibroblasts of a cystic fibrosis patient with compound heterozygous F508del/CFTRdele2. 3 mutations in CFTR gene. Stem Cell Research. 2022 Aug 1;63:102854.(Квартиль издания - Q4)
    Скачать PDF 4 МБ
  • 7. Anoshkin K, Zosen D, Karandasheva K, Untesco M, Volodin I, Alekseeva E, Parfenenkova A, Snegova E, Kim A, Dorofeeva M, Kutsev S. Pediatric chordoma associated with tuberous sclerosis complex: A rare case report with a thorough analysis of potential therapeutic molecular targets. Heliyon. 2022 Aug 1;8(8):e10291. (Квартиль издания - Q2)
    Скачать PDF 1 МБ
  • 8. Н. А. Скрябин, Д. И. Жигалина, В. А. Степанов. РОЛЬ СПЛАЙСИНГА В ПАТОГЕНЕЗЕ МОНОГЕННЫХ БОЛЕЗНЕЙ. ГЕНЕТИКА, 2022, том 58, No 10, с. 1155–1163 (Квартиль издания - Q4)
    Скачать PDF 100 кБ
  • 9. Л. В. Валихова, В. Н. Харьков, А. А. Зарубин, Н. А. Колесников, М. Г. Сваровская, И. Ю. Хитринская, О. В. Штыгашева, В. Г. Волков, В. А. Степанов. ГЕНЕТИЧЕСКАЯ ВЗАИМОСВЯЗЬ ЧУЛЫМСКИХ ТЮРКОВ С ХАКАСАМИ И КЕТАМИ ПО ДАННЫМ АУТОСОМНЫХ SNP И ГАПЛОГРУППАМ Y-ХРОМОСОМЫ. ГЕНЕТИКА, 2022, том 58, No 10, с. 1177–1184
    Скачать PDF 596 кБ
  • 10. Zhalsanova IZ, Ravzhaeva EG, Postrigan AE, Seitova GN, Zhigalina DI, Udalova VY, Danina MM, Kanivets IV, Skryabin NA. Case Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome. International Journal of Molecular Sciences. 2022 Sep 13;23(18):10606. (Квартиль издания - Q1)
    Скачать PDF 2 МБ
  • 11. А. Е. Постригань, Н. П. Бабушкина, Л. И. Свинцова, И. В. Плотникова, Н. А. Скрябин. КЛИНИКО-ГЕНЕТИЧЕСКИЕ ОСОБЕННОСТИ ВРОЖДЕННОГО СИНДРОМА УДЛИНЕННОГО ИНТЕРВАЛА QT. ГЕНЕТИКА, 2022, том 58, No 10, с. 1164–1176 (Квартиль издания - Q4)
    Скачать PDF 387 кБ