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Page 1
A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC.
Marakhonov A, Serebryakova E, Mukhina A, Vechkasova A, Prokhorov N, Efimova I, Balinova N, Lobenskaya A, Vasilyeva T, Zabnenkova V, Ryzhkova O, Rodina Y, Pershin D, Soloveva N, Fomenko A, Saydaeva D, Ibisheva A, Irbaieva T, Koroteev A, Zinchenko R, Voronin S, Shcherbina A, Kutsev S. Marakhonov A, et al. Among authors: ryzhkova o. Int J Mol Sci. 2024 Oct 9;25(19):10844. doi: 10.3390/ijms251910844. Int J Mol Sci. 2024. PMID: 39409174 Free PMC article.
Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series.
Murtazina A, Subbotin D, Kuchina A, Gilvanova O, Degterev D, Shchagina O, Cherevatova T, Bulakh M, Sherstyukova D, Ryzhkova O, Kurushina O, Skoblov M, Borovikov A, Kutsev S. Murtazina A, et al. Among authors: ryzhkova o. Front Genet. 2024 Aug 13;15:1414928. doi: 10.3389/fgene.2024.1414928. eCollection 2024. Front Genet. 2024. PMID: 39192891 Free PMC article.
Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.
Markova TG, Alekseeva NN, Ryzhkova OP, Shatokhina OL, Orlova AA, Zabnenkova VV, Groznova OS, Sagaydak OV, Chibisova SS, Polyakov AV, Tavartkiladze GA. Markova TG, et al. Among authors: ryzhkova op. J Int Adv Otol. 2024 Mar 27;20(2):119-126. doi: 10.5152/iao.2024.231252. J Int Adv Otol. 2024. PMID: 39157884 Free PMC article.
[Developmental and epileptic encephalopathy produced by the ATP1A2 mutation].
Rudenskaya GE, Guseva DM, Shatokhina OL, Kadnikova VA, Filatova AY, Skoblov MY, Ryzhkova OP. Rudenskaya GE, et al. Among authors: ryzhkova op. Zh Nevrol Psikhiatr Im S S Korsakova. 2024;124(6):133-138. doi: 10.17116/jnevro2024124061133. Zh Nevrol Psikhiatr Im S S Korsakova. 2024. PMID: 39072579 Russian.
Atypical structure of the nuclear membrane, distribution of nuclear pores and lamin B1 in spermatozoa of patients with complete and partial globozoospermia.
Bragina E, Kurchashova S, Suhomlinova M, Gasanova T, Ermolaeva S, Sorokina T, Kirs E, Arifulin E, Solovova O, Ryzhkova O, Khayat S, Andreeva M, Chernykh V. Bragina E, et al. Among authors: ryzhkova o. Front Genet. 2024 Jul 9;15:1427838. doi: 10.3389/fgene.2024.1427838. eCollection 2024. Front Genet. 2024. PMID: 39045326 Free PMC article.
Presentation of Rare Phenotypes Associated with the FKBP10 Gene.
Merkuryeva ES, Markova TV, Kenis VM, Agranovich OE, Dan IM, Kotalevskaya YY, Shchagina OA, Ryzhkova OP, Fomenko SS, Dadali EL, Kutsev SI. Merkuryeva ES, et al. Among authors: ryzhkova op. Genes (Basel). 2024 May 23;15(6):674. doi: 10.3390/genes15060674. Genes (Basel). 2024. PMID: 38927610 Free PMC article.
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.
Bulakh M, Polyakova D, Dadali E, Rudenskaya G, Sharkova I, Markova T, Murtazina A, Demina N, Kurbatov S, Nikitina N, Udalova V, Polyakov A, Ryzhkova O. Bulakh M, et al. Among authors: ryzhkova o. Gene. 2024 Nov 15;927:148680. doi: 10.1016/j.gene.2024.148680. Epub 2024 Jun 12. Gene. 2024. PMID: 38876406
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: ryzhkova op. J Clin Immunol. 2024 Apr 5;44(4):93. doi: 10.1007/s10875-024-01691-z. J Clin Immunol. 2024. PMID: 38578360
Spectrum of Mutations in PTPN11 in Russian Cohort.
Orlova A, Guseva D, Demina N, Polyakov A, Ryzhkova O. Orlova A, et al. Among authors: ryzhkova o. Genes (Basel). 2024 Mar 7;15(3):345. doi: 10.3390/genes15030345. Genes (Basel). 2024. PMID: 38540404 Free PMC article.
The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.
Kovalskaia VA, Kungurtseva AL, Bostanova FM, Vasiliev PA, Tabakov VY, Orlova MD, Povolotskaya IS, Novoselova OG, Bikanov RA, Akhyamova MA, Tikhonovich YV, Popovich AV, Vitebskaya AV, Dadali EL, Ryzhkova OP. Kovalskaia VA, et al. Among authors: ryzhkova op. Genes (Basel). 2024 Jan 29;15(2):180. doi: 10.3390/genes15020180. Genes (Basel). 2024. PMID: 38397171 Free PMC article.
53 results