Skoblov M - Search Results

1

Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant.

Kondratyeva E, Bukharova T, Efremova A, Melyanovskaya Y, Bulatenko N, Davydenko K, Filatova A, Skoblov M, Krasovsky S, Petrova N, Polyakov A, Adyan T, Amelina E, Shadrina V, Zhekaite E, Zodbinova A, Chernyak A, Zinchenko R, Kutsev S, Goldshtein D. Kondratyeva E, et al. Among authors: skoblov m. Genes (Basel). 2021 May 28;12(6):837. doi: 10.3390/genes12060837. Genes (Basel). 2021. PMID: 34071719 Free PMC article.

2

Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles.

Zernov NV, Skoblov MY, Marakhonov AV, Shimomura Y, Vasilyeva TA, Konovalov FA, Abrukova AV, Zinchenko RA. Zernov NV, et al. J Invest Dermatol. 2016 Jun;136(6):1097-1105. doi: 10.1016/j.jid.2016.01.037. Epub 2016 Feb 20. J Invest Dermatol. 2016. PMID: 26902920 Free article.

3

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. 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.

4

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. Among authors: skoblov m. Neurogenetics. 2018 Dec;19(4):257-260. doi: 10.1007/s10048-018-0558-4. Epub 2018 Nov 3. Neurogenetics. 2018. PMID: 30392167

5

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. Among authors: skoblov m. 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.

6

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. Among authors: skoblov m. Gene. 2019 May 20;697:159-164. doi: 10.1016/j.gene.2019.02.011. Epub 2019 Feb 19. Gene. 2019. PMID: 30794915

7

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. Among authors: skoblov m. 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.

8

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

9

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.

10

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. Among authors: skoblov m. BMC Nephrol. 2019 Oct 31;20(1):400. doi: 10.1186/s12882-019-1589-2. BMC Nephrol. 2019. PMID: 31672123 Free PMC article.

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