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Page 1
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain DP, Moiseev S, Suárez-Obando F, Al Ismaili F, Al Khawaja H, Altarescu G, Barreto FC, Haddoum F, Hadipour F, Maksimova I, Kramis M, Nampoothiri S, Nguyen KN, Niu DM, Politei J, Ro LS, Vu Chi D, Chen N, Kutsev S. Germain DP, et al. Among authors: kutsev s. Mol Genet Genomic Med. 2021 May;9(5):e1666. doi: 10.1002/mgg3.1666. Epub 2021 Apr 9. Mol Genet Genomic Med. 2021. PMID: 33835733 Free PMC article. Review.
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: kutsev si. J Clin Immunol. 2024 Apr 5;44(4):93. doi: 10.1007/s10875-024-01691-z. J Clin Immunol. 2024. PMID: 38578360
Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12.
Panchuk IO, Grigorieva OV, Kondrateva EV, Kurshakova EV, Tabakov V, Bychkov IO, Zakharova E, Orlova MD, Voronina ES, Pozhitnova VO, Lavrov AV, Smirnikhina SA, Kutsev SI. Panchuk IO, et al. Among authors: kutsev si. Stem Cell Res. 2023 Sep;71:103183. doi: 10.1016/j.scr.2023.103183. Epub 2023 Aug 15. Stem Cell Res. 2023. PMID: 37643494 Free article.
Extracellular vesicles of human glial cells exert neuroprotective effects via brain miRNA modulation in a rat model of traumatic brain injury.
Salikhova DI, Timofeeva AV, Golovicheva VV, Fatkhudinov TK, Shevtsova YA, Soboleva AG, Fedorov IS, Goryunov KV, Dyakonov AS, Mokrousova VO, Shedenkova MO, Elchaninov AV, Makhnach OV, Kutsev SI, Chekhonin VP, Silachev DN, Goldshtein DV. Salikhova DI, et al. Among authors: kutsev si. Sci Rep. 2023 Nov 21;13(1):20388. doi: 10.1038/s41598-023-47627-2. Sci Rep. 2023. PMID: 37989873 Free PMC article.
Therapeutic Efficiency of Proteins Secreted by Glial Progenitor Cells in a Rat Model of Traumatic Brain Injury.
Salikhova DI, Golovicheva VV, Fatkhudinov TK, Shevtsova YA, Soboleva AG, Goryunov KV, Dyakonov AS, Mokroysova VO, Mingaleva NS, Shedenkova MO, Makhnach OV, Kutsev SI, Chekhonin VP, Silachev DN, Goldshtein DV. Salikhova DI, et al. Among authors: kutsev si. Int J Mol Sci. 2023 Aug 2;24(15):12341. doi: 10.3390/ijms241512341. Int J Mol Sci. 2023. PMID: 37569717 Free PMC article.
Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.
Kondratyeva E, Melyanovskaya Y, Sherman V, Voronkova A, Zhekaite E, Krasovsky S, Amelina E, Kashirskaya N, Shadrina V, Polyakov A, Adyan T, Sсhagina O, Starinova M, Enina E, Vasilyev A, Marakhonov A, Zinchenko R, Kutsev S. Kondratyeva E, et al. Among authors: kutsev s. Front Genet. 2024 Oct 28;15:1383033. doi: 10.3389/fgene.2024.1383033. eCollection 2024. Front Genet. 2024. PMID: 39529847 Free PMC article.
155 results