Ginter EK - Search Results

1

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.

Bliznetz EA, Tverskaya SM, Zinchenko RA, Abrukova AV, Savaskina EN, Nikulin MV, Kirillov AG, Ginter EK, Polyakov AV. Bliznetz EA, et al. Among authors: ginter ek. Eur J Hum Genet. 2009 May;17(5):664-72. doi: 10.1038/ejhg.2008.234. Epub 2009 Jan 28. Eur J Hum Genet. 2009. PMID: 19172990 Free PMC article.

2

Genetic services in Russia.

Baranov VS, Ginter EK. Baranov VS, et al. Among authors: ginter ek. Eur J Hum Genet. 1997;5 Suppl 2:148-53. Eur J Hum Genet. 1997. PMID: 9450214 No abstract available.

3

On the origin and frequency of the 35delG allele in GJB2-linked deafness in Europe.

Anichkina A, Kulenich T, Zinchenko S, Shagina I, Polyakov A, Ginter E, Evgrafov O, Viktorova T, Khusnitdonova E. Anichkina A, et al. Eur J Hum Genet. 2001 Feb;9(2):151. doi: 10.1038/sj.ejhg.5200596. Eur J Hum Genet. 2001. PMID: 11313751 No abstract available.

4

Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH.

Kazantseva A, Goltsov A, Zinchenko R, Grigorenko AP, Abrukova AV, Moliaka YK, Kirillov AG, Guo Z, Lyle S, Ginter EK, Rogaev EI. Kazantseva A, et al. Among authors: ginter ek. Science. 2006 Nov 10;314(5801):982-5. doi: 10.1126/science.1133276. Science. 2006. PMID: 17095700

5

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

6

Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients.

Petrova NV, Kashirskaya NY, Krasovskiy SA, Amelina EL, Kondratyeva EI, Marakhonov AV, Vasilyeva TA, Voronkova AY, Sherman VD, Ginter EK, Kutsev SI, Zinchenko RA. Petrova NV, et al. Among authors: ginter ek. Genes (Basel). 2020 Sep 27;11(10):1137. doi: 10.3390/genes11101137. Genes (Basel). 2020. PMID: 32992607 Free PMC article.

7

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania.

Petrova N, Tebieva I, Kadyshev V, Getoeva Z, Balinova N, Marakhonov A, Vasilyeva T, Ginter E, Kutsev S, Zinchenko R. Petrova N, et al. PeerJ. 2023 Jan 30;11:e14514. doi: 10.7717/peerj.14514. eCollection 2023. PeerJ. 2023. PMID: 36743950 Free PMC article.

8

Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia-Alania, Case Series Report.

Vasilyeva TA, Marakhonov AV, Tebieva IS, Kadyshev VV, Borovikov AO, Markova ZG, Chukhrova AL, Ginter EK, Kutsev SI, Zinchenko RA. Vasilyeva TA, et al. Among authors: ginter ek. Int J Mol Sci. 2023 Feb 24;24(5):4515. doi: 10.3390/ijms24054515. Int J Mol Sci. 2023. PMID: 36901946 Free PMC article.

9

Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study.

Vasilyeva TA, Marakhonov AV, Voskresenskaya AA, Kadyshev VV, Sukhanova NV, Minzhenkova ME, Shilova NV, Latyshova AA, Ginter EK, Kutsev SI, Zinchenko RA. Vasilyeva TA, et al. Among authors: ginter ek. Genes (Basel). 2023 Nov 4;14(11):2041. doi: 10.3390/genes14112041. Genes (Basel). 2023. PMID: 38002984 Free PMC article.

10

Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.

Tebieva IS, Mishakova PV, Gabisova YV, Khokhova AV, Kaloeva TG, Marakhonov AV, Shchagina OA, Polyakov AV, Ginter EK, Kutsev SI, Zinchenko RA. Tebieva IS, et al. Among authors: ginter ek. Int J Mol Sci. 2024 Apr 23;25(9):4598. doi: 10.3390/ijms25094598. Int J Mol Sci. 2024. PMID: 38731816 Free PMC article.

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