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Page 1
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
Kiseleva AV, Klimushina MV, Sotnikova EA, Divashuk MG, Ershova AI, Skirko OP, Kurilova OV, Zharikova AA, Khlebus EY, Efimova IA, Pokrovskaya MS, Slominsky PA, Shalnova SA, Meshkov AN, Drapkina OM. Kiseleva AV, et al. Among authors: zharikova aa. J Pers Med. 2020 Sep 22;10(3):140. doi: 10.3390/jpm10030140. J Pers Med. 2020. PMID: 32971794 Free PMC article.
Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect.
Marakhonov AV, Brodehl A, Myasnikov RP, Sparber PA, Kiseleva AV, Kulikova OV, Meshkov AN, Zharikova AA, Koretsky SN, Kharlap MS, Stanasiuk C, Mershina EA, Sinitsyn VE, Shevchenko AO, Mozheyko NP, Drapkina OM, Boytsov SA, Milting H, Skoblov MY. Marakhonov AV, et al. Among authors: zharikova aa. Hum Mutat. 2019 Jun;40(6):734-741. doi: 10.1002/humu.23747. Epub 2019 Apr 3. Hum Mutat. 2019. PMID: 30908796
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A, Ershova A, Kiseleva A, Zotova E, Sotnikova E, Petukhova A, Zharikova A, Malyshev P, Rozhkova T, Blokhina A, Limonova A, Ramensky V, Divashuk M, Khasanova Z, Bukaeva A, Kurilova O, Skirko O, Pokrovskaya M, Mikova V, Snigir E, Akinshina A, Mitrofanov S, Kashtanova D, Makarov V, Kukharchuk V, Boytsov S, Yudin S, Drapkina O. Meshkov A, et al. Genes (Basel). 2021 Jan 6;12(1):66. doi: 10.3390/genes12010066. Genes (Basel). 2021. PMID: 33418990 Free PMC article.
Cystic Fibrosis Polymorphic Variants in a Russian Population.
Kiseleva A, Klimushina M, Sotnikova E, Skirko O, Divashuk M, Kurilova O, Ershova A, Khlebus E, Zharikova A, Efimova I, Pokrovskaya M, Slominsky PA, Shalnova S, Meshkov A, Drapkina O. Kiseleva A, et al. Pharmgenomics Pers Med. 2020 Dec 1;13:679-686. doi: 10.2147/PGPM.S278806. eCollection 2020. Pharmgenomics Pers Med. 2020. PMID: 33623413 Free PMC article.
Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset.
Brodehl A, Meshkov A, Myasnikov R, Kiseleva A, Kulikova O, Klauke B, Sotnikova E, Stanasiuk C, Divashuk M, Pohl GM, Kudryavtseva M, Klingel K, Gerull B, Zharikova A, Gummert J, Koretskiy S, Schubert S, Mershina E, Gärtner A, Pilus P, Laser KT, Sinitsyn V, Boytsov S, Drapkina O, Milting H. Brodehl A, et al. Int J Mol Sci. 2021 Apr 6;22(7):3786. doi: 10.3390/ijms22073786. Int J Mol Sci. 2021. PMID: 33917638 Free PMC article.
The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report.
Myasnikov R, Brodehl A, Meshkov A, Kulikova O, Kiseleva A, Pohl GM, Sotnikova E, Divashuk M, Klimushina M, Zharikova A, Pokrovskaya M, Koretskiy S, Kharlap M, Mershina E, Sinitsyn V, Basargina E, Gandaeva L, Barskiy V, Boytsov S, Milting H, Drapkina O. Myasnikov R, et al. Int J Mol Sci. 2021 Jun 24;22(13):6775. doi: 10.3390/ijms22136775. Int J Mol Sci. 2021. PMID: 34202524 Free PMC article.
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE, Ershova AI, Zaicenoka M, Kiseleva AV, Zharikova AA, Vyatkin YV, Sotnikova EA, Efimova IA, Divashuk MG, Kurilova OV, Skirko OP, Muromtseva GA, Belova OA, Rachkova SA, Pokrovskaya MS, Shalnova SA, Meshkov AN, Drapkina OM. Ramensky VE, et al. Among authors: zharikova aa. Front Genet. 2021 Oct 7;12:709419. doi: 10.3389/fgene.2021.709419. eCollection 2021. Front Genet. 2021. PMID: 34691145 Free PMC article.
Personalized approach in arrhythmology by genetic-based data: a case report.
Blokhina AV, Ershova AI, Zyatenkova EV, Meshkov AN, Kiseleva AV, Klimushina MV, Sotnikova EA, Skirko OP, Zharikova AA, Doludin YV, Kharlap MS, Drapkina OM. Blokhina AV, et al. Among authors: zharikova aa. Per Med. 2022 Mar;19(2):83-91. doi: 10.2217/pme-2021-0090. Epub 2022 Jan 21. Per Med. 2022. PMID: 35060774
A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene.
Myasnikov R, Bukaeva A, Kulikova O, Meshkov A, Kiseleva A, Ershova A, Petukhova A, Divashuk M, Zotova E, Sotnikova E, Kharlap M, Zharikova A, Vyatkin Y, Ramensky V, Abisheva A, Muraveva A, Koretskiy S, Kudryavtseva M, Popov S, Utkina M, Mershina E, Sinitsyn V, Kogan E, Blagova O, Drapkina O. Myasnikov R, et al. Genes (Basel). 2022 Feb 7;13(2):309. doi: 10.3390/genes13020309. Genes (Basel). 2022. PMID: 35205353 Free PMC article.
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
Sotnikova EA, Kiseleva AV, Kutsenko VA, Zharikova AA, Ramensky VE, Divashuk MG, Vyatkin YV, Klimushina MV, Ershova AI, Revazyan KZ, Skirko OP, Zaicenoka M, Efimova IA, Pokrovskaya MS, Kopylova OV, Glechan AM, Shalnova SA, Meshkov AN, Drapkina OM. Sotnikova EA, et al. Among authors: zharikova aa. J Pers Med. 2022 Jul 12;12(7):1132. doi: 10.3390/jpm12071132. J Pers Med. 2022. PMID: 35887629 Free PMC article.
28 results