Semenova NA - Search Results

1

Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia.

Marakhonov AV, Přechová M, Konovalov FA, Filatova AY, Zamkova MA, Kanivets IV, Solonichenko VG, Semenova NA, Zinchenko RA, Treisman R, Skoblov MY. Marakhonov AV, et al. Among authors: semenova na. Clin Genet. 2021 May;99(5):673-683. doi: 10.1111/cge.13926. Epub 2021 Jan 27. Clin Genet. 2021. PMID: 33463715 Free PMC article.

2

A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder.

Semenova NA, Kurkina MV, Marakhonov AV, Dadali EL, Taran NN, Strokova TV. Semenova NA, et al. Mol Genet Metab Rep. 2021 Apr 12;27:100754. doi: 10.1016/j.ymgmr.2021.100754. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33912394 Free PMC article.

3

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

Levchenko O, Dadali E, Bessonova L, Demina N, Rudenskaya G, Matyushchenko G, Markova T, Anisimova I, Semenova N, Shchagina O, Ryzhkova O, Zinchenko R, Galkina V, Voinova V, Nagieva S, Lavrov A. Levchenko O, et al. Int J Mol Sci. 2022 Jul 14;23(14):7764. doi: 10.3390/ijms23147764. Int J Mol Sci. 2022. PMID: 35887114 Free PMC article.

4

Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene.

Semenova N, Marakhonov A, Ampleeva M, Kurkina M, Baydakova G, Skoblov M, Taran N, Babak O, Shchukina E, Strokova T. Semenova N, et al. Int J Mol Sci. 2022 Nov 30;23(23):15026. doi: 10.3390/ijms232315026. Int J Mol Sci. 2022. PMID: 36499355 Free PMC article.

5

Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation.

Semenova N, Shatokhina O, Shchagina O, Kamenec E, Marakhonov A, Degtyareva A, Taran N, Strokova T. Semenova N, et al. Int J Mol Sci. 2023 Apr 18;24(8):7449. doi: 10.3390/ijms24087449. Int J Mol Sci. 2023. PMID: 37108612 Free PMC article.

6

Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.

Semenova N, Kamenets E, Annenkova E, Marakhonov A, Gusarova E, Demina N, Guseva D, Anisimova I, Degtyareva A, Taran N, Strokova T, Zakharova E. Semenova N, et al. Int J Mol Sci. 2023 Jul 21;24(14):11758. doi: 10.3390/ijms241411758. Int J Mol Sci. 2023. PMID: 37511516 Free PMC article.

7

Clinical Case of Mild Tatton-Brown-Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene.

Bostanova F, Levchenko O, Sharova M, Semenova N. Bostanova F, et al. Clin Pract. 2024 May 21;14(3):928-933. doi: 10.3390/clinpract14030073. Clin Pract. 2024. PMID: 38804405 Free PMC article.

8

A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of USP53.

Shatokhina O, Semenova N, Demina N, Dadali E, Polyakov A, Ryzhkova O. Shatokhina O, et al. Genes (Basel). 2021 Oct 14;12(10):1618. doi: 10.3390/genes12101618. Genes (Basel). 2021. PMID: 34681012 Free PMC article.

9

[The third case report a patient with primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome de novo variant mutations in the CACNA1D gene].

Semenova NA, Ryzhkova OR, Strokova TV, Taran NN. Semenova NA, et al. Zh Nevrol Psikhiatr Im S S Korsakova. 2018;118(12):49-52. doi: 10.17116/jnevro201811812149. Zh Nevrol Psikhiatr Im S S Korsakova. 2018. PMID: 30698561 Russian.

10

A Clinical Case of a Homozygous Deletion in the APOA5 Gene with Severe Hypertriglyceridemia.

Vasiluev PA, Ivanova ON, Semenova NA, Strokova TV, Taran NN, Chubykina UV, Ezhov MV, Zakharova EY, Dadli EL, Kutsev SI. Vasiluev PA, et al. Among authors: semenova na. Genes (Basel). 2022 Jun 14;13(6):1062. doi: 10.3390/genes13061062. Genes (Basel). 2022. PMID: 35741823 Free PMC article.

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