Skoblov M - Search Results

1

A comparative analysis of relative occurrence of transcription factor binding sites in vertebrate genomes and gene promoter areas.

Stepanova M, Tiazhelova T, Skoblov M, Baranova A. Stepanova M, et al. Among authors: skoblov m. Bioinformatics. 2005 May 1;21(9):1789-96. doi: 10.1093/bioinformatics/bti307. Epub 2005 Feb 4. Bioinformatics. 2005. PMID: 15699025

2

Potential regulatory SNPs in promoters of human genes: a systematic approach.

Stepanova M, Tiazhelova T, Skoblov M, Baranova A. Stepanova M, et al. Among authors: skoblov m. Mol Cell Probes. 2006 Dec;20(6):348-58. doi: 10.1016/j.mcp.2006.03.007. Epub 2006 May 6. Mol Cell Probes. 2006. PMID: 16806810

3

[Cloning and expression of the IGA-specific endopeptidase genes from Neisseria meningitidis].

Khomenkov VG, Kazeeva TN, Shevelev BI, Bargrasser VP, Skoblov MIu, Shevelev AB. Khomenkov VG, et al. Among authors: skoblov miu. Mol Gen Mikrobiol Virusol. 2007;(1):30-5. Mol Gen Mikrobiol Virusol. 2007. PMID: 17354606 Russian.

4

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. Among authors: skoblov m. 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

5

Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia.

Sparber P, Krylova T, Repina S, Demina N, Rudenskaya G, Sharkova I, Sharkov A, Kadyshev V, Kanivets I, Korostelev S, Pomerantseva E, Kaimonov V, Mikhailova S, Zakharova E, Skoblov M. Sparber P, et al. Among authors: skoblov m. Parkinsonism Relat Disord. 2021 Mar;84:98-104. doi: 10.1016/j.parkreldis.2021.02.002. Epub 2021 Feb 9. Parkinsonism Relat Disord. 2021. PMID: 33607528

6

Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia.

Marakhonov AV, Přechová M, Konovalov FA, Filatova AY, Zamkova MA, Kanivets IV, Solonichenko VG, Semenova NA, Zinchenko RA, Treisman R, Skoblov MY. Marakhonov AV, et al. Among authors: skoblov my. Clin Genet. 2021 May;99(5):673-683. doi: 10.1111/cge.13926. Epub 2021 Jan 27. Clin Genet. 2021. PMID: 33463715

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. Among authors: skoblov m. 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

Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome.

Sparber P, Filatova A, Anisimova I, Markova T, Voinova V, Chuhrova A, Tabakov V, Skoblov M. Sparber P, et al. Among authors: skoblov m. Eur J Med Genet. 2020 Dec;63(12):104088. doi: 10.1016/j.ejmg.2020.104088. Epub 2020 Oct 15. Eur J Med Genet. 2020. PMID: 33069932

9

Analysis of candidate genes expected to be essential for melanoma surviving.

Krivosheeva IA, Filatova AY, Moshkovskii SA, Baranova AV, Skoblov MY. Krivosheeva IA, et al. Among authors: skoblov my. Cancer Cell Int. 2020 Oct 7;20:488. doi: 10.1186/s12935-020-01584-2. eCollection 2020. Cancer Cell Int. 2020. PMID: 33041669 Free PMC article.

10

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.

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