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Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
Published in:
Journal of Personalized Medicine, 2022, v. 12, n. 7, p. 1132, doi. 10.3390/jpm12071132
By:
- Sotnikova, Evgeniia A.;
- Kiseleva, Anna V.;
- Kutsenko, Vladimir A.;
- Zharikova, Anastasia A.;
- Ramensky, Vasily E.;
- Divashuk, Mikhail G.;
- Vyatkin, Yuri V.;
- Klimushina, Marina V.;
- Ershova, Alexandra I.;
- Revazyan, Karina Z.;
- Skirko, Olga P.;
- Zaicenoka, Marija;
- Efimova, Irina A.;
- Pokrovskaya, Maria S.;
- Kopylova, Oksana V.;
- Glechan, Anush M.;
- Shalnova, Svetlana A.;
- Meshkov, Alexey N.;
- Drapkina, Oxana M.
Publication type:
Article
The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study.
Published in:
Journal of Personalized Medicine, 2021, v. 11, n. 6, p. 464, doi. 10.3390/jpm11060464
By:
- Meshkov, Alexey N.;
- Ershova, Alexandra I.;
- Kiseleva, Anna V.;
- Shalnova, Svetlana A.;
- Drapkina, Oxana M.;
- Boytsov, Sergey A.
Publication type:
Article
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
Published in:
Journal of Personalized Medicine, 2020, v. 10, n. 3, p. 140, doi. 10.3390/jpm10030140
By:
- Kiseleva, Anna V.;
- Klimushina, Marina V.;
- Sotnikova, Evgeniia A.;
- Divashuk, Mikhail G.;
- Ershova, Alexandra I.;
- Skirko, Olga P.;
- Kurilova, Olga V.;
- Zharikova, Anastasia A.;
- Khlebus, Eleonora Yu.;
- Efimova, Irina A.;
- Pokrovskaya, Maria S.;
- Slominsky, Petr A.;
- Shalnova, Svetlana A.;
- Meshkov, Alexey N.;
- Drapkina, Oxana M.
Publication type:
Article
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Published in:
Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.709419
By:
- Ramensky, Vasily E.;
- Ershova, Alexandra I.;
- Zaicenoka, Marija;
- Kiseleva, Anna V.;
- Zharikova, Anastasia A.;
- Vyatkin, Yuri V.;
- Sotnikova, Evgeniia A.;
- Efimova, Irina A.;
- Divashuk, Mikhail G.;
- Kurilova, Olga V.;
- Skirko, Olga P.;
- Muromtseva, Galina A.;
- Belova, Olga A.;
- Rachkova, Svetlana A.;
- Pokrovskaya, Maria S.;
- Shalnova, Svetlana A.;
- Meshkov, Alexey N.;
- Drapkina, Oxana M.
Publication type:
Article
Levels of nitric oxide metabolites, adiponectin and endothelin are associated with SNPs of the adiponectin and endothelin genes.
Published in:
Biomedical Reports, 2019, v. 11, n. 4, p. 154, doi. 10.3892/br.2019.1238
By:
- Gumanova, Nadezhda G.;
- Klimushina, Marina V.;
- Smetnev, Stepan A.;
- Kiseleva, Anna V.;
- Skirko, Olga P.;
- Meshkov, Alexey N.;
- Shanoyan, Artem S.;
- Kots, Alexander Y.;
- Metelskaya, Victoria A.
Publication type:
Article
Variation in Copy Number of Ty3/Gypsy Centromeric Retrotransposons in the Genomes of Thinopyrum intermedium and Its Diploid Progenitors.
Published in:
PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0154241
By:
- Divashuk, Mikhail G.;
- Khuat, Thi Mai L.;
- Kroupin, Pavel Yu.;
- Kirov, Ilya V.;
- Romanov, Dmitry V.;
- Kiseleva, Anna V.;
- Khrustaleva, Ludmila I.;
- Alexeev, Dmitry G.;
- Zelenin, Alexandr S.;
- Klimushina, Marina V.;
- Razumova, Olga V.;
- Karlov, Gennady I.
Publication type:
Article
Back Cover, Volume 40, Issue 6.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. ii, doi. 10.1002/humu.23796
By:
- Marakhonov, Andrey V.;
- Brodehl, Andreas;
- Myasnikov, Roman P.;
- Sparber, Peter A.;
- Kiseleva, Anna V.;
- Kulikova, Olga V.;
- Meshkov, Alexey N.;
- Zharikova, Anastasia A.;
- Koretsky, Serguey N.;
- Kharlap, Maria S.;
- Stanasiuk, Caroline;
- Mershina, Elena A.;
- Sinitsyn, Valentin E.;
- Shevchenko, Alexey O.;
- Mozheyko, Natalia P.;
- Drapkina, Oksana M.;
- Boytsov, Sergey A.;
- Milting, Hendrik;
- Skoblov, Mikhail Yu.
Publication type:
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.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 734, doi. 10.1002/humu.23747
By:
- Marakhonov, Andrey V.;
- Brodehl, Andreas;
- Myasnikov, Roman P.;
- Sparber, Peter A.;
- Kiseleva, Anna V.;
- Kulikova, Olga V.;
- Meshkov, Alexey N.;
- Zharikova, Anastasia A.;
- Koretsky, Serguey N.;
- Kharlap, Maria S.;
- Stanasiuk, Caroline;
- Mershina, Elena A.;
- Sinitsyn, Valentin E.;
- Shevchenko, Alexey O.;
- Mozheyko, Natalia P.;
- Drapkina, Oksana M.;
- Boytsov, Sergey A.;
- Milting, Hendrik;
- Skoblov, Mikhail Yu.
Publication type:
Article
A Splice Variant of the MYH7 Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy.
Published in:
Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101750
By:
- Myasnikov, Roman P.;
- Kulikova, Olga V.;
- Meshkov, Alexey N.;
- Bukaeva, Anna A.;
- Kiseleva, Anna V.;
- Ershova, Alexandra I.;
- Petukhova, Anna V.;
- Divashuk, Mikhail G.;
- Zotova, Evgenia D.;
- Sotnikova, Evgeniia A.;
- Abisheva, Alexandra A.;
- Muraveva, Alisa V.;
- Koretskiy, Sergey N.;
- Popov, Sergey V.;
- Utkina, Marina V.;
- Snigir, Ekaterina A.;
- Mitrofanov, Sergey I.;
- Konureeva, Ksenia D.;
- Mershina, Elena A.;
- Sinitsyn, Valentin E.
Publication type:
Article
Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 17, p. 13159, doi. 10.3390/ijms241713159
By:
- Blokhina, Anastasia V.;
- Ershova, Alexandra I.;
- Kiseleva, Anna V.;
- Sotnikova, Evgeniia A.;
- Zharikova, Anastasia A.;
- Zaicenoka, Marija;
- Vyatkin, Yuri V.;
- Ramensky, Vasily E.;
- Kutsenko, Vladimir A.;
- Shalnova, Svetlana A.;
- Meshkov, Alexey N.;
- Drapkina, Oxana M.
Publication type:
Article

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