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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. Among authors: voskresenskaya aa. 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
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: voskresenskaya aa. 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.
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. Among authors: voskresenskaya aa. Genes (Basel). 2023 Nov 4;14(11):2041. doi: 10.3390/genes14112041. Genes (Basel). 2023. PMID: 38002984 Free PMC article.