Marakhonov AV - 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. Among authors: marakhonov av. 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

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: marakhonov av. 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: marakhonov av. 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: marakhonov av. Clin Genet. 2017 Dec;92(6):639-644. doi: 10.1111/cge.13019. Epub 2017 Aug 2. Clin Genet. 2017. PMID: 28321846

5

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. 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.

6

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. Among authors: marakhonov av. 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.

7

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: marakhonov av. 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.

8

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

9

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: marakhonov av. 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.

10

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. Hum Mol Genet. 2019 Oct 1;28(19):3323-3326. doi: 10.1093/hmg/ddz168. Hum Mol Genet. 2019. PMID: 31304537

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