Shchagina O - Search Results

1

Clinical and Genetic Analysis of Digenic Muscular Dystrophy due to SRPK3 and TTN Variants in Two Siblings.

Sharkova I, Borovikov A, Konovalov F, Nefedova M, Shchagina O, Kutsev S, Murtazina A. Sharkova I, et al. Among authors: shchagina o. Clin Genet. 2024 Dec 12. doi: 10.1111/cge.14673. Online ahead of print. Clin Genet. 2024. PMID: 39667923

2

[Clinical-genetic correlations in the hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene].

Milovidova TB, Dadali EL, Fedotov VP, Shchagina OA, Poliakov AV. Milovidova TB, et al. Among authors: shchagina oa. Zh Nevrol Psikhiatr Im S S Korsakova. 2011;111(12):48-55. Zh Nevrol Psikhiatr Im S S Korsakova. 2011. PMID: 22433810 Russian.

3

Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families.

Rudenskaya GE, Marakhonov AV, Shchagina OA, Lozier ER, Dadali EL, Akimova IA, Petrova NV, Konovalov FA. Rudenskaya GE, et al. J Pediatr Genet. 2019 Jun;8(2):58-62. doi: 10.1055/s-0039-1684008. Epub 2019 Mar 27. J Pediatr Genet. 2019. PMID: 31061747 Free PMC article.

4

[Ataxia-telangiectasia with rare phenotype and unusual pedigree].

Rudenskaya GE, Shchagina OA, Ampleeva MA, Konovalov FA. Rudenskaya GE, et al. Among authors: shchagina oa. Zh Nevrol Psikhiatr Im S S Korsakova. 2019;119(6):101-106. doi: 10.17116/jnevro2019119061101. Zh Nevrol Psikhiatr Im S S Korsakova. 2019. PMID: 31407689 Russian.

5

HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients.

Shchagina OA, Milovidova TB, Murtazina AF, Rudenskaya GE, Nikitin SS, Dadali EL, Polyakov AV. Shchagina OA, et al. Mol Biol Rep. 2020 Feb;47(2):1331-1337. doi: 10.1007/s11033-019-05238-z. Epub 2019 Dec 17. Mol Biol Rep. 2020. PMID: 31848916

6

Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome.

Beskorovainaya T, Konovalov F, Demina N, Shchagina O, Pashchenko M, Kanivets I, Pyankov D, Ryzhkova O, Polyakov A. Beskorovainaya T, et al. Among authors: shchagina o. J Autism Dev Disord. 2021 Jun;51(6):2159-2163. doi: 10.1007/s10803-020-04668-0. J Autism Dev Disord. 2021. PMID: 32816169 No abstract available.

7

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report.

Marakhonov AV, Mishina IA, Kadyshev VV, Repina SA, Shurygina MF, Shchagina OA, Vasserman NN, Vasilyeva TA, Kutsev SI, Zinchenko RA. Marakhonov AV, et al. BMC Med Genet. 2020 Oct 22;21(Suppl 1):156. doi: 10.1186/s12881-020-01093-z. BMC Med Genet. 2020. PMID: 33092543 Free PMC article.

8

A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy.

Chausova PA, Ryzhkova OP, Rudenskaya GE, Chernykh VB, Shchagina OA, Polyakov AV. Chausova PA, et al. Among authors: shchagina oa. Front Genet. 2021 Oct 29;12:686800. doi: 10.3389/fgene.2021.686800. eCollection 2021. Front Genet. 2021. PMID: 34777456 Free PMC article.

9

Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome.

Zabnenkova V, Shchagina O, Makienko O, Matyushchenko G, Ryzhkova O. Zabnenkova V, et al. Among authors: shchagina o. Appl Clin Genet. 2022 Jan 6;15:1-10. doi: 10.2147/TACG.S342804. eCollection 2022. Appl Clin Genet. 2022. PMID: 35023948 Free PMC article.

10

The First Russian Patient with Native American Myopathy.

Murtazina A, Demina N, Chausova P, Shchagina O, Borovikov A, Dadali E. Murtazina A, et al. Among authors: shchagina o. Genes (Basel). 2022 Feb 13;13(2):341. doi: 10.3390/genes13020341. Genes (Basel). 2022. PMID: 35205385 Free PMC article.

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