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Page 1
Decreased TREC and KREC levels in newborns with trisomy 21.
Marakhonov A, Mukhina A, Vlasova E, Efimova I, Balinova N, Rodina Y, Pershin D, Markova Z, Minzhenkova M, Shilova N, Mudaeva D, Saydaeva D, Irbaieva T, Matulevich S, Belyashova E, Yakubovskiy G, Tebieva I, Gabisova Y, Ikaev M, Irinina N, Nurgalieva L, Saifullina E, Belyaeva T, Romanova O, Voronin S, Zinchenko R, Shcherbina A, Kutsev S. Marakhonov A, et al. Among authors: tebieva i. Front Pediatr. 2024 Oct 17;12:1468635. doi: 10.3389/fped.2024.1468635. eCollection 2024. Front Pediatr. 2024. PMID: 39483532 Free PMC article.
Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns.
Efimova IY, Zinchenko RA, Marakhonov AV, Balinova NV, Mikhalchuk KA, Shchagina OA, Polyakov AV, Mudaeva DA, Saydaeva DH, Matulevich SA, Parshintseva PD, Belyashova EY, Yakubovskiy GI, Tebieva IS, Gabisova YV, Irinina NA, Jamschikova AV, Nurgalieva LR, Saifullina EV, Nevmerzhitskaya KS, Belyaeva TI, Romanova OS, Voronin SV, Kutsev SI. Efimova IY, et al. Among authors: tebieva is. Pediatr Neurol. 2024 Jul;156:147-154. doi: 10.1016/j.pediatrneurol.2024.04.015. Epub 2024 Apr 24. Pediatr Neurol. 2024. PMID: 38781723
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
Marakhonov AV, Efimova IY, Mukhina AA, Zinchenko RA, Balinova NV, Rodina Y, Pershin D, Ryzhkova OP, Orlova AA, Zabnenkova VV, Cherevatova TB, Beskorovainaya TS, Shchagina OA, Polyakov AV, Markova ZG, Minzhenkova ME, Shilova NV, Larin SS, Khadzhieva MB, Dudina ES, Kalinina EV, Mudaeva DA, Saydaeva DH, Matulevich SA, Belyashova EY, Yakubovskiy GI, Tebieva IS, Gabisova YV, Irinina NA, Nurgalieva LR, Saifullina EV, Belyaeva TI, Romanova OS, Voronin SV, Shcherbina A, Kutsev SI. Marakhonov AV, et al. Among authors: tebieva is. J Clin Immunol. 2024 Apr 5;44(4):93. doi: 10.1007/s10875-024-01691-z. J Clin Immunol. 2024. PMID: 38578360
High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
Makretskaya N, Kalinchenko N, Tebieva I, Ionova S, Zinchenko R, Marakhonov A, Tiulpakov A. Makretskaya N, et al. Among authors: tebieva i. Front Endocrinol (Lausanne). 2023 May 16;14:1146768. doi: 10.3389/fendo.2023.1146768. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37274334 Free PMC article.