Ionova SA - Search Results

1

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.

Bobreshova AM, Ionova SA, Kadyshev VV, Sukhanova NV, Viakhireva IV, Filatova AY, Zhurkova NV, Sparber PA, Marakhonov AV, Vasilyeva TA, Shchagina OA, Kutsev SI, Zinchenko RA. Bobreshova AM, et al. Among authors: ionova sa. Int J Mol Sci. 2024 Oct 19;25(20):11260. doi: 10.3390/ijms252011260. Int J Mol Sci. 2024. PMID: 39457042 Free PMC article.

2

The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene.

Ionova SA, Murtazina AF, Tebieva IS, Getoeva ZK, Dadali EL, Chausova PA, Shchagina OA, Marakhonov AV, Kutsev SI, Zinchenko RA. Ionova SA, et al. Int J Mol Sci. 2022 Oct 12;23(20):12127. doi: 10.3390/ijms232012127. Int J Mol Sci. 2022. PMID: 36292982 Free PMC article.

3

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. 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.

4

Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies.

Sharova M, Markova T, Sumina M, Petukhova M, Bulakh M, Ryzhkova O, Nagornova T, Ionova S, Marakhonov A, Dadali E, Kutsev S. Sharova M, et al. Genes (Basel). 2023 Jul 28;14(8):1553. doi: 10.3390/genes14081553. Genes (Basel). 2023. PMID: 37628605 Free PMC article.

5

The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania.

Ionova SA, Murtazina AF, Marakhonov AA, Shchagina OA, Ryadninskaya NV, Tebieva IS, Kadyshev VV, Borovikov AO, Ginter EK, Kutsev SI, Zinchenko RA. Ionova SA, et al. Int J Mol Sci. 2024 Sep 9;25(17):9734. doi: 10.3390/ijms25179734. Int J Mol Sci. 2024. PMID: 39273681 Free PMC article.

6

Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report.

Vasilyeva T, Kadyshev V, Khalanskaya O, Kuznetsova S, Ionova S, Marakhonov A, Zinchenko R. Vasilyeva T, et al. Genes (Basel). 2024 Oct 1;15(10):1295. doi: 10.3390/genes15101295. Genes (Basel). 2024. PMID: 39457419 Free PMC article.

7

Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.

Shchagina O, Stepanova A, Mishakova P, Kadyshev V, Demina N, Bessonova L, Ionova S, Guseva D, Marakhonov A, Zinchenko R, Kutsev S, Polyakov A. Shchagina O, et al. Biomedicines. 2024 Oct 1;12(10):2234. doi: 10.3390/biomedicines12102234. Biomedicines. 2024. PMID: 39457547 Free PMC article.

8

The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin.

Subbotin D, Ionova S, Marakhonov A, Saifullina E, Borovikov A, Akhmadeeva L, Chausova P, Ryzhkova O, Zinchenko R, Kutsev S, Murtazina A. Subbotin D, et al. Front Genet. 2024 Dec 11;15:1511304. doi: 10.3389/fgene.2024.1511304. eCollection 2024. Front Genet. 2024. PMID: 39722797 Free PMC article.

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