Tatyana Vasilyeva
Overview
Explore the profile of Tatyana Vasilyeva including associated specialties, affiliations and a list of published articles.
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6
Citations
29
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Recent Articles
1.
Vasilyeva T, Kadyshev V, Khalanskaya O, Kuznetsova S, Ionova S, Marakhonov A, et al.
Genes (Basel)
. 2024 Oct;
15(10).
PMID: 39457419
Background/objectives: Knobloch syndrome 1 (KS) is an autosomal recessive inherited ocular syndrome characterized by a combination of high myopia, vitreoretinal degeneration, and occipital encephalocele. KS is caused by biallelic pathogenic...
2.
Marakhonov A, Serebryakova E, Mukhina A, Vechkasova A, Prokhorov N, Efimova I, et al.
Int J Mol Sci
. 2024 Oct;
25(19).
PMID: 39409174
The expanded newborn screening (NBS) program in the Russian Federation was initiated in 2023, among which severe combined immunodeficiency (SCID) is screened using TREC/KREC assays. Here, we report a rare...
3.
Petrova N, Tebieva I, Kadyshev V, Getoeva Z, Balinova N, Marakhonov A, et al.
PeerJ
. 2023 Feb;
11:e14514.
PMID: 36743950
More than 50% of congenital hearing loss is hereditary, in which the majority form is non-syndromic. In this study we estimate the most prevalent pathogenic genetic changes in an Ossetian...
4.
Petrova N, Balinova N, Marakhonov A, Vasilyeva T, Kashirskaya N, Galkina V, et al.
Front Genet
. 2021 Jul;
12:678374.
PMID: 34220950
Cystic fibrosis (CF) is a common monogenic disease caused by pathogenic variants in the gene. The distribution and frequency of variants vary in different countries and ethnic groups. The spectrum...
5.
Voskresenskaya A, Pozdeyeva N, Batkov Y, Vasilyeva T, Marakhonov A, West R, et al.
Exp Eye Res
. 2020 Nov;
203:108371.
PMID: 33248069
Congenital aniridia is caused by heterozygous mutations in the PAX6 gene. In this disease, congenital iris and foveal hypoplasia is associated with juvenile onset cataract, glaucoma, and corneal keratopathy. In...
6.
Voskresenskaya A, Pozdeyeva N, Vasilyeva T, Batkov Y, Shipunov A, Gagloev B, et al.
Ocul Surf
. 2017 Jul;
15(4):759-769.
PMID: 28698011
Purpose: The study aimed to evaluate clinical and morphological changes in the limbal palisades of Vogt (POV) at different stages of aniridia-associated keratopathy (AAK) and to assess possible utility of...