Skoblov MY - Search Results

1

The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency.

Bychkov IO, Kamenets EA, Filatova AY, Skoblov MY, Mikhaylova SV, Strokova TV, Gundobina OS, Zakharova EY. Bychkov IO, et al. Among authors: skoblov my. Mol Genet Metab. 2019 Jul;127(3):212-215. doi: 10.1016/j.ymgme.2019.06.005. Epub 2019 Jun 15. Mol Genet Metab. 2019. PMID: 31230978

2

Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay.

Filatova AY, Vasilyeva TA, Marakhonov AV, Voskresenskaya AA, Zinchenko RA, Skoblov MY. Filatova AY, et al. Among authors: skoblov my. Eur J Hum Genet. 2019 Mar;27(3):488-493. doi: 10.1038/s41431-018-0288-y. Epub 2018 Oct 12. Eur J Hum Genet. 2019. PMID: 30315214 Free PMC article.

3

Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing.

Sparber P, Marakhonov A, Filatova A, Sharkova I, Skoblov M. Sparber P, et al. Neurogenetics. 2018 Dec;19(4):257-260. doi: 10.1007/s10048-018-0558-4. Epub 2018 Nov 3. Neurogenetics. 2018. PMID: 30392167

4

Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome.

Filatova A, Freire V, Lozier E, Konovalov F, Bessonova L, Iudina E, Gnetetskaya V, Kanivets I, Korostelev S, Skoblov M. Filatova A, et al. Clin Genet. 2019 Mar;95(3):440-441. doi: 10.1111/cge.13472. Epub 2018 Nov 28. Clin Genet. 2019. PMID: 30485398 Free article. No abstract available.

5

Common pathogenic mechanism in patients with dropped head syndrome caused by different mutations in the MYH7 gene.

Surikova Y, Filatova A, Polyak M, Skoblov M, Zaklyazminskaya E. Surikova Y, et al. Gene. 2019 May 20;697:159-164. doi: 10.1016/j.gene.2019.02.011. Epub 2019 Feb 19. Gene. 2019. PMID: 30794915

6

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.

7

X-linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation.

Milovidova TB, Schagina OA, Freire MV, Demina NA, Filatova AY, Skoblov MY, Stepanova AA, Chuhrova AL, Polyakov AV. Milovidova TB, et al. Among authors: skoblov my. J Eur Acad Dermatol Venereol. 2019 Dec;33(12):e468-e470. doi: 10.1111/jdv.15798. Epub 2019 Jul 30. J Eur Acad Dermatol Venereol. 2019. PMID: 31306530 Free article. No abstract available.

8

CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report.

Papizh S, Serzhanova V, Filatova A, Skoblov M, Tabakov V, van den Heuvel L, Levtchenko E, Prikhodina L. Papizh S, et al. BMC Nephrol. 2019 Oct 31;20(1):400. doi: 10.1186/s12882-019-1589-2. BMC Nephrol. 2019. PMID: 31672123 Free PMC article.

9

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.

10

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.

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