Zinchenko RA - Search Results

1

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: zinchenko ra. 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.

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: zinchenko ra. 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

Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles.

Zernov NV, Skoblov MY, Marakhonov AV, Shimomura Y, Vasilyeva TA, Konovalov FA, Abrukova AV, Zinchenko RA. Zernov NV, et al. Among authors: zinchenko ra. J Invest Dermatol. 2016 Jun;136(6):1097-1105. doi: 10.1016/j.jid.2016.01.037. Epub 2016 Feb 20. J Invest Dermatol. 2016. PMID: 26902920 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. Among authors: zinchenko ra. Clin Genet. 2017 Dec;92(6):639-644. doi: 10.1111/cge.13019. Epub 2017 Aug 2. Clin Genet. 2017. PMID: 28321846

5

Clinical and morphological manifestations of aniridia-associated keratopathy on anterior segment optical coherence tomography and in vivo confocal microscopy.

Voskresenskaya A, Pozdeyeva N, Vasilyeva T, Batkov Y, Shipunov A, Gagloev B, Zinchenko R. Voskresenskaya A, et al. Ocul Surf. 2017 Oct;15(4):759-769. doi: 10.1016/j.jtos.2017.07.001. Epub 2017 Jul 8. Ocul Surf. 2017. PMID: 28698011

6

[Diagnostic capabilities of optical coherence tomography and confocal laser scanning microscopy in studying manifestations of aniridia-associated keratopathy].

Voskresenskaya AA, Pozdeeva NA, Vasil'eva TA, Gagloev BV, Shipunov AA, Zinchenko RA. Voskresenskaya AA, et al. Among authors: zinchenko ra. Vestn Oftalmol. 2017;133(6):30-44. doi: 10.17116/oftalma2017133630-44. Vestn Oftalmol. 2017. PMID: 29319667 Russian.

7

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.

Marakhonov AV, Konovalov FA, Makaov AK, Vasilyeva TA, Kadyshev VV, Galkina VA, Dadali EL, Kutsev SI, Zinchenko RA. Marakhonov AV, et al. Among authors: zinchenko ra. BMC Med Genomics. 2018 Feb 13;11(Suppl 1):8. doi: 10.1186/s12920-018-0326-1. BMC Med Genomics. 2018. PMID: 29504900 Free PMC article.

8

Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic.

Zinchenko RA, Kadyshev VV, El'chinova GI, Marakhonov AV, Galkina VA, Dadali EL, Khlebnikova OV, Mikhailova LK, Petrova NV, Petrina NE, Vasilyeva TA, Gundorova P, Tanas AS, Strelnikov VV, Polyakov AV, Ginter EK. Zinchenko RA, et al. Int J Mol Epidemiol Genet. 2018 Aug 20;9(4):34-42. eCollection 2018. Int J Mol Epidemiol Genet. 2018. PMID: 30245780 Free PMC article.

9

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: zinchenko ra. 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.

10

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: zinchenko ra. Clin Genet. 2019 Mar;95(3):444-447. doi: 10.1111/cge.13477. Epub 2018 Dec 12. Clin Genet. 2019. PMID: 30548586

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