Vasilyeva TA - Search Results

1

Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay.

Filatova AY, Vasilyeva TA, Marakhonov AV, Voskresenskaya AA, Zinchenko RA, Skoblov MY. Filatova AY, et al. Among authors: vasilyeva ta. Eur J Hum Genet. 2019 Mar;27(3):488-493. doi: 10.1038/s41431-018-0288-y. Epub 2018 Oct 12. Eur J Hum Genet. 2019. PMID: 30315214 Free PMC article.

2

A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

Meshcheryakova TI, Zinchenko RA, Vasilyeva TA, Marakhonov AV, Zhylina SS, Petrova NV, Kozhanova TV, Belenikin MS, Petrin AN, Mutovin GR. Meshcheryakova TI, et al. Among authors: vasilyeva ta. Ann Hum Genet. 2015 Mar;79(2):148-52. doi: 10.1111/ahg.12098. Epub 2015 Jan 15. Ann Hum Genet. 2015. PMID: 25590586

3

High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia.

Petrova NV, Kashirskaya NY, Vasilyeva TA, Timkovskaya EE, Voronkova AY, Shabalova LA, Kondratyeva EI, Sherman VD, Novoselova OG, Kapranov NI, Zinchenko RA, Ginter EK, Makaov AKh, Kerem B. Petrova NV, et al. Among authors: vasilyeva ta. J Cyst Fibros. 2016 May;15(3):e28-32. doi: 10.1016/j.jcf.2016.02.003. J Cyst Fibros. 2016. PMID: 26948992 Free article.

4

Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.

Vasilyeva TA, Voskresenskaya AA, Käsmann-Kellner B, Khlebnikova OV, Pozdeyeva NA, Bayazutdinova GM, Kutsev SI, Ginter EK, Semina EV, Marakhonov AV, Zinchenko RA. Vasilyeva TA, et al. Clin Genet. 2017 Dec;92(6):639-644. doi: 10.1111/cge.13019. Epub 2017 Aug 2. Clin Genet. 2017. PMID: 28321846

5

Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.

Petrova NV, Marakhonov AV, Vasilyeva TA, Kashirskaya NY, Ginter EK, Kutsev SI, Zinchenko RA. Petrova NV, et al. Among authors: vasilyeva ta. Clin Genet. 2019 Mar;95(3):444-447. doi: 10.1111/cge.13477. Epub 2018 Dec 12. Clin Genet. 2019. PMID: 30548586

6

Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.

Petrova NV, Kashirskaya NY, Saydaeva DK, Polyakov AV, Adyan TA, Simonova OI, Gorinova YV, Kondratyeva EI, Sherman VD, Novoselova OG, Vasilyeva TA, Marakhonov AV, Macek M Jr, Ginter EK, Zinchenko RA. Petrova NV, et al. Among authors: vasilyeva ta. BMC Med Genet. 2019 Mar 21;20(1):44. doi: 10.1186/s12881-019-0785-z. BMC Med Genet. 2019. PMID: 30898088 Free PMC article.

7

[Molecular genetics in diagnosis of Coats disease: combination of oligogenic variants associated with different forms of hereditary retinal dystrophy].

Vasilyeva TA, Kadyshev VV, Marakhonov AV, Kanivets IV, Korostelev SA, Koshkin PA, Pyankov DV, Petrova NV, Kutsev SI, Zinchenko RA. Vasilyeva TA, et al. Vestn Oftalmol. 2023;139(1):69-74. doi: 10.17116/oftalma202313901169. Vestn Oftalmol. 2023. PMID: 36924516 Russian.

8

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.

9

Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome.

Marakhonov AV, Vasilyeva TA, Minzhenkova ME, Sukhanova NV, Sparber PA, Andreeva NA, Teleshova MV, Baybagisova FK, Shilova NV, Kutsev SI, Zinchenko RA. Marakhonov AV, et al. Among authors: vasilyeva ta. Int J Mol Sci. 2023 Nov 29;24(23):16923. doi: 10.3390/ijms242316923. Int J Mol Sci. 2023. PMID: 38069245 Free PMC article.

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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