Polyakov AV - Search Results

1

Rudenskaya GE, Polyakov AV, Tverskaya SM, Zaklyazminskaya EV, Chukhrova AL, Groznova OE, Ginter EK. Rudenskaya GE, et al. Among authors: polyakov av. Clin Genet. 2008 Aug;74(2):127-33. doi: 10.1111/j.1399-0004.2008.01045.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18564364

2

Unique mosaic X/Y translocation/insertion in infant 45,X male.

Chernykh VB, Vyatkina SV, Antonenko VG, Shilova NV, Zolotukhina TV, Kurilo LF, Chukhrova AL, Polyakov AV. Chernykh VB, et al. Among authors: polyakov av. Am J Med Genet A. 2008 Dec 15;146A(24):3195-7. doi: 10.1002/ajmg.a.32578. Am J Med Genet A. 2008. PMID: 19012335

3

[Molecular genetic diagnosis of Stargardt disease].

Sheremet NL, Zhorzholadze NV, Ronzina IA, Grushke IG, Kurbatov SA, Chukhrova AL, Loginova AN, Shcherbakova PO, Tanas AS, Polyakov AV, Strel'nikov VV. Sheremet NL, et al. Among authors: polyakov av. Vestn Oftalmol. 2017;133(4):4-11. doi: 10.17116/oftalma201713344-11. Vestn Oftalmol. 2017. PMID: 28980559 Free article. Russian.

4

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: polyakov 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.

5

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.

6

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.

7

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. Int J Mol Sci. 2022 Oct 22;23(21):12710. doi: 10.3390/ijms232112710. Int J Mol Sci. 2022. PMID: 36361501 Free PMC article.

8

Functional Characterization of Two Novel Intron 4 SERPING1 Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema.

Shchagina O, Gracheva E, Chukhrova A, Bliznets E, Bychkov I, Kutsev S, Polyakov A. Shchagina O, et al. Biomedicines. 2023 Dec 28;12(1):72. doi: 10.3390/biomedicines12010072. Biomedicines. 2023. PMID: 38255179 Free PMC article.

9

Spectrum of Mutations in PTPN11 in Russian Cohort.

Orlova A, Guseva D, Demina N, Polyakov A, Ryzhkova O. Orlova A, et al. Genes (Basel). 2024 Mar 7;15(3):345. doi: 10.3390/genes15030345. Genes (Basel). 2024. PMID: 38540404 Free PMC article.

10

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

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