Vasilyeva TA - Search Results

1

An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280.4:c.341A>G, p.(Asn114Ser).

Vasilyeva TA, Sukhanova NV, Khalanskaya OV, Marakhonov AV, Prokhorov NS, Kadyshev VV, Skryabin NA, Kutsev SI, Zinchenko RA. Vasilyeva TA, et al. Curr Issues Mol Biol. 2023 Dec 22;46(1):96-105. doi: 10.3390/cimb46010008. Curr Issues Mol Biol. 2023. PMID: 38248310 Free PMC article.

2

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient.

Vasilyeva TA, Sukhanova NV, Marakhonov AV, Kuzina NY, Shilova NV, Kadyshev VV, Kutsev SI, Zinchenko RA. Vasilyeva TA, et al. Int J Mol Sci. 2023 Oct 24;24(21):15527. doi: 10.3390/ijms242115527. Int J Mol Sci. 2023. PMID: 37958513 Free PMC article.

3

LMO2 gene deletions significantly worsen the prognosis of Wilms' tumor development in patients with WAGR syndrome.

Marakhonov AV, Vasilyeva TA, Voskresenskaya AA, Sukhanova NV, Kadyshev VV, Kutsev SI, Zinchenko RA. Marakhonov AV, et al. Among authors: vasilyeva ta. Hum Mol Genet. 2019 Oct 1;28(19):3323-3326. doi: 10.1093/hmg/ddz168. Hum Mol Genet. 2019. PMID: 31304537

4

Analysis of genotype-phenotype correlations in PAX6-associated aniridia.

Vasilyeva TA, Marakhonov AV, Voskresenskaya AA, Kadyshev VV, Käsmann-Kellner B, Sukhanova NV, Katargina LA, Kutsev SI, Zinchenko RA. Vasilyeva TA, et al. J Med Genet. 2021 Apr;58(4):270-274. doi: 10.1136/jmedgenet-2019-106172. Epub 2020 May 28. J Med Genet. 2021. PMID: 32467297

5

Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome.

Vasilyeva TA, Marakhonov AV, Sukhanova NV, Kutsev SI, Zinchenko RA. Vasilyeva TA, et al. Genes (Basel). 2020 Jul 17;11(7):812. doi: 10.3390/genes11070812. Genes (Basel). 2020. PMID: 32708836 Free PMC article.

6

Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.

Marakhonov AV, Voskresenskaya AA, Ballesta MJ, Konovalov FA, Vasilyeva TA, Blanco-Kelly F, Pozdeyeva NA, Kadyshev VV, López-González V, Guillen E, Ayuso C, Zinchenko RA, Corton M. Marakhonov AV, et al. Among authors: vasilyeva ta. Orphanet J Rare Dis. 2020 Aug 13;15(1):207. doi: 10.1186/s13023-020-01484-8. Orphanet J Rare Dis. 2020. PMID: 32791987 Free PMC article.

7

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report.

Marakhonov AV, Mishina IA, Kadyshev VV, Repina SA, Shurygina MF, Shchagina OA, Vasserman NN, Vasilyeva TA, Kutsev SI, Zinchenko RA. Marakhonov AV, et al. Among authors: vasilyeva ta. BMC Med Genet. 2020 Oct 22;21(Suppl 1):156. doi: 10.1186/s12881-020-01093-z. BMC Med Genet. 2020. PMID: 33092543 Free PMC article.

8

Upstream ORF frameshift variants in the PAX6 5'UTR cause congenital aniridia.

Filatova AY, Vasilyeva TA, Marakhonov AV, Sukhanova NV, Voskresenskaya AA, Zinchenko RA, Skoblov MY. Filatova AY, et al. Among authors: vasilyeva ta. Hum Mutat. 2021 Aug;42(8):1053-1065. doi: 10.1002/humu.24248. Epub 2021 Jul 5. Hum Mutat. 2021. PMID: 34174135

9

Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World's Population and the Human Genome.

Vasilyeva TA, Marakhonov AV, Kutsev SI, Zinchenko RA. Vasilyeva TA, et al. Int J Mol Sci. 2022 Jun 15;23(12):6690. doi: 10.3390/ijms23126690. Int J Mol Sci. 2022. PMID: 35743132 Free PMC article. Review.

10

Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study.

Vasilyeva TA, Marakhonov AV, Voskresenskaya AA, Kadyshev VV, Sukhanova NV, Minzhenkova ME, Shilova NV, Latyshova AA, Ginter EK, Kutsev SI, Zinchenko RA. Vasilyeva TA, et al. Genes (Basel). 2023 Nov 4;14(11):2041. doi: 10.3390/genes14112041. Genes (Basel). 2023. PMID: 38002984 Free PMC article.

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