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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. Among authors: drapkina o. Genes (Basel). 2022 Feb 7;13(2):309. doi: 10.3390/genes13020309. Genes (Basel). 2022. PMID: 35205353 Free PMC article.
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. J Pers Med. 2020 Sep 22;10(3):140. doi: 10.3390/jpm10030140. J Pers Med. 2020. PMID: 32971794 Free PMC article.
National Association of Biobanks and Biobanking Specialists: New Community for Promoting Biobanking Ideas and Projects in Russia.
Anisimov SV, Meshkov AN, Glotov AS, Borisova AL, Balanovsky OP, Belyaev VE, Granstrem OK, Grivtsova LY, Efimenko AY, Pokrovskaya MS, Semenenko TA, Sukhorukov VS, Kaprin AD, Drapkina OM. Anisimov SV, et al. Biopreserv Biobank. 2021 Feb;19(1):73-82. doi: 10.1089/bio.2020.0049. Epub 2020 Oct 15. Biopreserv Biobank. 2021. PMID: 33058731
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. Among authors: drapkina o. Genes (Basel). 2021 Jan 6;12(1):66. doi: 10.3390/genes12010066. Genes (Basel). 2021. PMID: 33418990 Free PMC article.
The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy.
Kulikova O, Brodehl A, Kiseleva A, Myasnikov R, Meshkov A, Stanasiuk C, Gärtner A, Divashuk M, Sotnikova E, Koretskiy S, Kharlap M, Kozlova V, Mershina E, Pilus P, Sinitsyn V, Milting H, Boytsov S, Drapkina O. Kulikova O, et al. Among authors: drapkina o. Genes (Basel). 2021 Jan 19;12(1):121. doi: 10.3390/genes12010121. Genes (Basel). 2021. PMID: 33478057 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. Among authors: drapkina o. 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. Among authors: drapkina o. 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. Among authors: drapkina o. Int J Mol Sci. 2021 Jun 24;22(13):6775. doi: 10.3390/ijms22136775. Int J Mol Sci. 2021. PMID: 34202524 Free PMC article.
181 results