Polyakov A - Search Results

1

Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases.

Shchagina O, Fedotov V, Markova T, Shatokhina O, Ryzhkova O, Fedotova T, Polyakov A. Shchagina O, et al. Among authors: polyakov a. Int J Mol Sci. 2022 Aug 24;23(17):9576. doi: 10.3390/ijms23179576. Int J Mol Sci. 2022. PMID: 36076978 Free PMC article.

2

Hidden X chromosomal mosaicism in a 46,XX male.

Chernykh VB, Kurilo LF, Shilova NV, Zolotukhina TV, Ryzhkova OP, Bliznetz EA, Polyakov AV. Chernykh VB, et al. Among authors: polyakov av. Sex Dev. 2009;3(4):183-7. doi: 10.1159/000228718. Epub 2009 Sep 11. Sex Dev. 2009. PMID: 19752597

3

[The results of cochlear implantation in the patient with hereditary and non-hereditary hearing loss].

Tavartkiladze GA, Bakhshinyan VV, Markova TG, Tsygankova ER, Petrova IP, Goykhburg MV, Chibisova SS, Bliznetz EA, Polyakov AV. Tavartkiladze GA, et al. Among authors: polyakov av. Vestn Otorinolaringol. 2016;81(6):17-21. doi: 10.17116/otorino201681617-21. Vestn Otorinolaringol. 2016. PMID: 28091470 Russian.

4

[The clinical definition and etiology of Pendred syndrome (a review of the literature and clinical observations)].

Markova TG, Geptner EN, Lalayants MR, Zelikovich EI, Chugunova TI, Mironovich OL, Bliznetz EA, Polyakov AV, Tavartkiladze GA. Markova TG, et al. Among authors: polyakov av. Vestn Otorinolaringol. 2016;81(6):25-31. doi: 10.17116/otorino201681625-31. Vestn Otorinolaringol. 2016. PMID: 28091472 Russian.

5

[Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders].

Mironovich OL, Bliznetz EA, Markova TG, Geptner EN, Lalayants MR, Zelikovich EI, Tavartkiladze GA, Polyakov AV. Mironovich OL, et al. Among authors: polyakov av. Genetika. 2017 Jan;53(1):88-99. Genetika. 2017. PMID: 29372807 Russian.

6

A new case of infantile-onset hereditary spastic paraplegia with complicated phenotype (SPG61) in a consanguineous Russian family.

Chukhrova AL, Akimova IA, Shchagina OA, Kadnikova VA, Ryzhkova OP, Polyakov AV. Chukhrova AL, et al. Among authors: polyakov av. Eur J Neurol. 2019 May;26(5):e61-e62. doi: 10.1111/ene.13880. Eur J Neurol. 2019. PMID: 30980493 No abstract available.

7

The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.

Kuznetcova I, Gundorova P, Ryzhkova O, Polyakov A. Kuznetcova I, et al. Among authors: polyakov a. Metab Brain Dis. 2019 Dec;34(6):1547-1555. doi: 10.1007/s11011-019-00461-w. Epub 2019 Jul 22. Metab Brain Dis. 2019. PMID: 31332730

8

KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.

Rudenskaya GE, Kadnikova VA, Ryzhkova OP, Bessonova LA, Dadali EL, Guseva DS, Markova TV, Khmelkova DN, Polyakov AV. Rudenskaya GE, et al. Among authors: polyakov av. BMC Neurol. 2020 Aug 3;20(1):290. doi: 10.1186/s12883-020-01872-4. BMC Neurol. 2020. PMID: 32746806 Free PMC article.

9

Specificities of the DMD Gene Mutation Spectrum in Russian Patients.

Zinina E, Bulakh M, Chukhrova A, Ryzhkova O, Sparber P, Shchagina O, Polyakov A, Kutsev S. Zinina E, et al. Among authors: polyakov a. Int J Mol Sci. 2022 Oct 22;23(21):12710. doi: 10.3390/ijms232112710. Int J Mol Sci. 2022. PMID: 36361501 Free PMC article.

10

Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children.

Savostyanov K, Murashkin N, Pushkov A, Zhanin I, Suleymanov E, Akhkiamova M, Shchagina O, Balanovska E, Epishev R, Polyakov A, Fisenko A. Savostyanov K, et al. Among authors: polyakov a. Int J Mol Sci. 2022 Nov 18;23(22):14343. doi: 10.3390/ijms232214343. Int J Mol Sci. 2022. PMID: 36430820 Free PMC article.

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