Markova T - Search Results

1

Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss.

Markova T, Alekseeva N, Lalayants M, Ryzhkova O, Shatokhina O, Galeeva N, Bliznetz E, Belov O, Chibisova S, Polyakov A, Tavartkiladze G. Markova T, et al. J Pers Med. 2022 Nov 4;12(11):1843. doi: 10.3390/jpm12111843. J Pers Med. 2022. PMID: 36579563 Free PMC article.

2

KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.

Rudenskaya GE, Kadnikova VA, Ryzhkova OP, Bessonova LA, Dadali EL, Guseva DS, Markova TV, Khmelkova DN, Polyakov AV. Rudenskaya GE, et al. Among authors: markova tv. BMC Neurol. 2020 Aug 3;20(1):290. doi: 10.1186/s12883-020-01872-4. BMC Neurol. 2020. PMID: 32746806 Free PMC article.

3

Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.

Markova TV, Kenis V, Melchenko E, Guseva D, Osipova D, Galeeva N, Nagornova T, Dadali EL. Markova TV, et al. Mol Genet Genomic Med. 2022 May;10(5):e1904. doi: 10.1002/mgg3.1904. Epub 2022 Mar 21. Mol Genet Genomic Med. 2022. PMID: 35315254 Free PMC article.

4

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. Among authors: markova t. Int J Mol Sci. 2022 Jul 14;23(14):7764. doi: 10.3390/ijms23147764. Int J Mol Sci. 2022. PMID: 35887114 Free PMC article.

5

Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases.

Shchagina O, Fedotov V, Markova T, Shatokhina O, Ryzhkova O, Fedotova T, Polyakov A. Shchagina O, et al. Among authors: markova t. Int J Mol Sci. 2022 Aug 24;23(17):9576. doi: 10.3390/ijms23179576. Int J Mol Sci. 2022. PMID: 36076978 Free PMC article.

6

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.

Markova T, Kenis V, Melchenko E, Alieva A, Nagornova T, Orlova A, Ogorodova N, Shchagina O, Polyakov A, Dadali E, Kutsev S. Markova T, et al. Genes (Basel). 2022 Aug 24;13(9):1512. doi: 10.3390/genes13091512. Genes (Basel). 2022. PMID: 36140680 Free PMC article.

7

Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.

Shatokhina O, Galeeva N, Stepanova A, Markova T, Lalayants M, Alekseeva N, Tavarkiladze G, Markova T, Bessonova L, Petukhova M, Guseva D, Anisimova I, Polyakov A, Ryzhkova O, Bliznetz E. Shatokhina O, et al. Among authors: markova t. Int J Mol Sci. 2022 Dec 12;23(24):15748. doi: 10.3390/ijms232415748. Int J Mol Sci. 2022. PMID: 36555390 Free PMC article.

8

The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity.

Viakhireva I, Bychkov I, Markova T, Shatokhina O, Karandasheva K, Udalova V, Bekhtereva Y, Ryzhkova O, Skoblov M. Viakhireva I, et al. Among authors: markova t. Bone. 2024 Apr;181:117013. doi: 10.1016/j.bone.2024.117013. Epub 2024 Jan 19. Bone. 2024. PMID: 38246255

9

Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.

Markova T, Sparber P, Borovikov A, Nagornova T, Dadali E. Markova T, et al. Mol Genet Genomic Med. 2021 Mar;9(3):e1620. doi: 10.1002/mgg3.1620. Epub 2021 Feb 11. Mol Genet Genomic Med. 2021. PMID: 33570243 Free PMC article.

10

Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24.32: a case report.

Akimova D, Markova T, Ampleeva M, Skoblov M. Akimova D, et al. Among authors: markova t. Front Genet. 2024 Jan 5;14:1303807. doi: 10.3389/fgene.2023.1303807. eCollection 2023. Front Genet. 2024. PMID: 38250576 Free PMC article.

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