Skoblov MY - Search Results

1

Genome scale analysis of pathogenic variants targetable for single base editing.

Lavrov AV, Varenikov GG, Skoblov MY. Lavrov AV, et al. Among authors: skoblov my. BMC Med Genomics. 2020 Sep 18;13(Suppl 8):80. doi: 10.1186/s12920-020-00735-8. BMC Med Genomics. 2020. PMID: 32948190 Free PMC article.

2

Publisher Correction: Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape.

Bychkov I, Kuznetsova A, Baydakova G, Gorobets L, Kenis V, Dimitrieva A, Filatova A, Tabakov V, Skoblov M, Zakharova E. Bychkov I, et al. NPJ Genom Med. 2022 Nov 14;7(1):66. doi: 10.1038/s41525-022-00337-6. NPJ Genom Med. 2022. PMID: 36376332 Free PMC article. No abstract available.

3

Pathways of aging: comparative analysis of gene signatures in replicative senescence and stress induced premature senescence.

Kural KC, Tandon N, Skoblov M, Kel-Margoulis OV, Baranova AV. Kural KC, et al. BMC Genomics. 2016 Dec 28;17(Suppl 14):1030. doi: 10.1186/s12864-016-3352-4. BMC Genomics. 2016. PMID: 28105936 Free PMC article.

4

Genotype-phenotype correlations in FSHD.

Zernov N, Skoblov M. Zernov N, et al. BMC Med Genomics. 2019 Mar 13;12(Suppl 2):43. doi: 10.1186/s12920-019-0488-5. BMC Med Genomics. 2019. PMID: 30871534 Free PMC article. Review.

5

The role of long non-coding RNAs in the pathogenesis of hereditary diseases.

Sparber P, Filatova A, Khantemirova M, Skoblov M. Sparber P, et al. BMC Med Genomics. 2019 Mar 13;12(Suppl 2):42. doi: 10.1186/s12920-019-0487-6. BMC Med Genomics. 2019. PMID: 30871545 Free PMC article. Review.

6

LINC01420 RNA structure and influence on cell physiology.

Konina DO, Filatova AY, Skoblov MY. Konina DO, et al. Among authors: skoblov my. BMC Genomics. 2019 May 8;20(Suppl 3):298. doi: 10.1186/s12864-019-5538-z. BMC Genomics. 2019. PMID: 32039714 Free PMC article.

7

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report.

Sparber P, Sharova M, Filatova A, Shchagina O, Ivanova E, Dadali E, Skoblov M. Sparber P, et al. BMC Med Genet. 2020 Oct 22;21(Suppl 1):197. doi: 10.1186/s12881-020-01128-5. BMC Med Genet. 2020. PMID: 33092578 Free PMC article.

8

The mammalian pannexin family is homologous to the invertebrate innexin gap junction proteins.

Baranova A, Ivanov D, Petrash N, Pestova A, Skoblov M, Kelmanson I, Shagin D, Nazarenko S, Geraymovych E, Litvin O, Tiunova A, Born TL, Usman N, Staroverov D, Lukyanov S, Panchin Y. Baranova A, et al. Genomics. 2004 Apr;83(4):706-16. doi: 10.1016/j.ygeno.2003.09.025. Genomics. 2004. PMID: 15028292

9

Medical genetics studies at BGRS conference series.

Baranova AV, Skoblov MY, Voropaeva EN, Shanmughavel P, Orlov YL. Baranova AV, et al. Among authors: skoblov my. BMC Med Genet. 2019 Apr 9;20(Suppl 1):50. doi: 10.1186/s12881-019-0769-z. BMC Med Genet. 2019. PMID: 30967129 Free PMC article. No abstract available.

10

Alkaptonuria in Russia: mutational spectrum and novel variants.

Bychkov I, Kamenets E, Kurkina M, Rychkov G, Ilyushkina A, Filatova A, Guseva D, Baydakova G, Nekrasov A, Cheblokov A, Skoblov M, Zakharova E. Bychkov I, et al. Eur J Med Genet. 2021 Apr;64(4):104165. doi: 10.1016/j.ejmg.2021.104165. Epub 2021 Feb 20. Eur J Med Genet. 2021. PMID: 33621656

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