Ginter EK - Search Results

1

The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania.

Ionova SA, Murtazina AF, Marakhonov AA, Shchagina OA, Ryadninskaya NV, Tebieva IS, Kadyshev VV, Borovikov AO, Ginter EK, Kutsev SI, Zinchenko RA. Ionova SA, et al. Among authors: ginter ek. Int J Mol Sci. 2024 Sep 9;25(17):9734. doi: 10.3390/ijms25179734. Int J Mol Sci. 2024. PMID: 39273681 Free PMC article.

2

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.

3

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.

4

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.

5

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.

6

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.

7

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

8

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.

9

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

10

Extracellular GC-rich DNA activates TLR9- and NF-kB-dependent signaling pathways in human adipose-derived mesenchymal stem cells (haMSCs).

Kostjuk S, Loseva P, Chvartatskaya O, Ershova E, Smirnova T, Malinovskaya E, Roginko O, Kuzmin V, Izhevskaia V, Baranova A, Ginter E, Veiko N. Kostjuk S, et al. Expert Opin Biol Ther. 2012 Jun;12 Suppl 1:S99-111. doi: 10.1517/14712598.2012.690028. Epub 2012 May 18. Expert Opin Biol Ther. 2012. PMID: 22594608

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

171 results

Search Page

Filters