Marakhonov AV - Search Results

1

A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder.

Semenova NA, Kurkina MV, Marakhonov AV, Dadali EL, Taran NN, Strokova TV. Semenova NA, et al. Among authors: marakhonov av. Mol Genet Metab Rep. 2021 Apr 12;27:100754. doi: 10.1016/j.ymgmr.2021.100754. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33912394 Free PMC article.

2

Decreased TREC and KREC levels in newborns with trisomy 21.

Marakhonov A, Mukhina A, Vlasova E, Efimova I, Balinova N, Rodina Y, Pershin D, Markova Z, Minzhenkova M, Shilova N, Mudaeva D, Saydaeva D, Irbaieva T, Matulevich S, Belyashova E, Yakubovskiy G, Tebieva I, Gabisova Y, Ikaev M, Irinina N, Nurgalieva L, Saifullina E, Belyaeva T, Romanova O, Voronin S, Zinchenko R, Shcherbina A, Kutsev S. Marakhonov A, et al. Front Pediatr. 2024 Oct 17;12:1468635. doi: 10.3389/fped.2024.1468635. eCollection 2024. Front Pediatr. 2024. PMID: 39483532 Free PMC article.

3

Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns.

Efimova IY, Zinchenko RA, Marakhonov AV, Balinova NV, Mikhalchuk KA, Shchagina OA, Polyakov AV, Mudaeva DA, Saydaeva DH, Matulevich SA, Parshintseva PD, Belyashova EY, Yakubovskiy GI, Tebieva IS, Gabisova YV, Irinina NA, Jamschikova AV, Nurgalieva LR, Saifullina EV, Nevmerzhitskaya KS, Belyaeva TI, Romanova OS, Voronin SV, Kutsev SI. Efimova IY, et al. Among authors: marakhonov av. Pediatr Neurol. 2024 Jul;156:147-154. doi: 10.1016/j.pediatrneurol.2024.04.015. Epub 2024 Apr 24. Pediatr Neurol. 2024. PMID: 38781723

4

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.

5

Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.

Marakhonov AV, Tabakov VY, Zernov NV, Dadali EL, Sharkova IV, Skoblov MY. Marakhonov AV, et al. Gene. 2018 Sep 25;672:165-171. doi: 10.1016/j.gene.2018.06.026. Epub 2018 Jun 9. Gene. 2018. PMID: 29894794

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

Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families.

Rudenskaya GE, Marakhonov AV, Shchagina OA, Lozier ER, Dadali EL, Akimova IA, Petrova NV, Konovalov FA. Rudenskaya GE, et al. Among authors: marakhonov av. J Pediatr Genet. 2019 Jun;8(2):58-62. doi: 10.1055/s-0039-1684008. Epub 2019 Mar 27. J Pediatr Genet. 2019. PMID: 31061747 Free PMC article.

8

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.

Zinchenko RA, Makaov AK, Marakhonov AV, Galkina VA, Kadyshev VV, El'chinova GI, Dadali EL, Mikhailova LK, Petrova NV, Petrina NE, Vasilyeva TA, Gundorova P, Polyakov AV, Alexandrova OY, Kutsev SI, Ginter EK. Zinchenko RA, et al. Among authors: marakhonov av. Int J Mol Sci. 2020 Jan 3;21(1):325. doi: 10.3390/ijms21010325. Int J Mol Sci. 2020. PMID: 31947737 Free PMC article.

9

Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia.

Marakhonov AV, Přechová M, Konovalov FA, Filatova AY, Zamkova MA, Kanivets IV, Solonichenko VG, Semenova NA, Zinchenko RA, Treisman R, Skoblov MY. Marakhonov AV, et al. Clin Genet. 2021 May;99(5):673-683. doi: 10.1111/cge.13926. Epub 2021 Jan 27. Clin Genet. 2021. PMID: 33463715 Free PMC article.

10

The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene.

Ionova SA, Murtazina AF, Tebieva IS, Getoeva ZK, Dadali EL, Chausova PA, Shchagina OA, Marakhonov AV, Kutsev SI, Zinchenko RA. Ionova SA, et al. Among authors: marakhonov av. Int J Mol Sci. 2022 Oct 12;23(20):12127. doi: 10.3390/ijms232012127. Int J Mol Sci. 2022. PMID: 36292982 Free PMC article.

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