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Akademický článek

Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Autor: Miroshnikova VV; Laboratory of Human Molecular Genetics, Molecular and Radiation Biophysics Department, Petersburg Nuclear Physics Institute, National Research Center 'Kurchatov Institute', Gatchina 188300, Russian Federation., Romanova OV; Genetic Laboratory of City Hospital No. 40, Saint-Petersburg, 197706, Russian Federation.; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology and Reproduction, Saint-Petersburg 199034, Russian Federation., Ivanova ON; Laboratory of Hereditary Metabolic Diseases and Counselling Unit of Federal State Budgetary Institution 'Research Centre for Medical Genetics', Moscow 115522, Russian Federation., Fedyakov MA; Genetic Laboratory of City Hospital No. 40, Saint-Petersburg, 197706, Russian Federation., Panteleeva AA; Laboratory of Human Molecular Genetics, Molecular and Radiation Biophysics Department, Petersburg Nuclear Physics Institute, National Research Center 'Kurchatov Institute', Gatchina 188300, Russian Federation.; Kurchatov Complex of NBICS Nature-Like Technologies of National Research Center 'Kurchatov Institute', Moscow 123182, Russian Federation.; Molecular-Genetic and Nanobiological Technology Department of Scientific Research Center, Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg 197022, Russian Federation.; Bioinformatics Institute, Saint-Petersburg 197342, Russian Federation., Barbitoff YA; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology and Reproduction, Saint-Petersburg 199034, Russian Federation.; Bioinformatics Institute, Saint-Petersburg 197342, Russian Federation., Muzalevskaya MV; Department for Atherosclerosis and Lipid Disorders of North-Western District Scientific and Clinical Center Named After L.G. Sokolov FMBA, Saint-Petersburg 194291, Russian Federation.; Medical Faculty of Saint-Petersburg State University, Saint-Petersburg 199034, Russian Federation., Urazgildeeva SA; Department for Atherosclerosis and Lipid Disorders of North-Western District Scientific and Clinical Center Named After L.G. Sokolov FMBA, Saint-Petersburg 194291, Russian Federation.; Medical Faculty of Saint-Petersburg State University, Saint-Petersburg 199034, Russian Federation., Gurevich VS; Department for Atherosclerosis and Lipid Disorders of North-Western District Scientific and Clinical Center Named After L.G. Sokolov FMBA, Saint-Petersburg 194291, Russian Federation.; Medical Faculty of Saint-Petersburg State University, Saint-Petersburg 199034, Russian Federation., Urazov SP; Genetic Laboratory of City Hospital No. 40, Saint-Petersburg, 197706, Russian Federation., Scherbak SG; Genetic Laboratory of City Hospital No. 40, Saint-Petersburg, 197706, Russian Federation., Sarana AM; Medical Faculty of Saint-Petersburg State University, Saint-Petersburg 199034, Russian Federation., Semenova NA; Laboratory of Hereditary Metabolic Diseases and Counselling Unit of Federal State Budgetary Institution 'Research Centre for Medical Genetics', Moscow 115522, Russian Federation., Anisimova IV; Laboratory of Hereditary Metabolic Diseases and Counselling Unit of Federal State Budgetary Institution 'Research Centre for Medical Genetics', Moscow 115522, Russian Federation., Guseva DM; Laboratory of Hereditary Metabolic Diseases and Counselling Unit of Federal State Budgetary Institution 'Research Centre for Medical Genetics', Moscow 115522, Russian Federation., Pchelina SN; Laboratory of Human Molecular Genetics, Molecular and Radiation Biophysics Department, Petersburg Nuclear Physics Institute, National Research Center 'Kurchatov Institute', Gatchina 188300, Russian Federation.; Kurchatov Complex of NBICS Nature-Like Technologies of National Research Center 'Kurchatov Institute', Moscow 123182, Russian Federation.; Molecular-Genetic and Nanobiological Technology Department of Scientific Research Center, Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg 197022, Russian Federation., Glotov AS; Genetic Laboratory of City Hospital No. 40, Saint-Petersburg, 197706, Russian Federation.; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology and Reproduction, Saint-Petersburg 199034, Russian Federation., Zakharova EY; Laboratory of Hereditary Metabolic Diseases and Counselling Unit of Federal State Budgetary Institution 'Research Centre for Medical Genetics', Moscow 115522, Russian Federation., Glotov OS; Genetic Laboratory of City Hospital No. 40, Saint-Petersburg, 197706, Russian Federation.; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology and Reproduction, Saint-Petersburg 199034, Russian Federation.

Publikováno v: Biomedical reports [Biomed Rep] 2021 Jan; Vol. 14 (1), pp. 15. Date of Electronic Publication: 2020 Nov 17.

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Akademický článek

Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome.

Autor: Shikov AE; Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia.; Saint Petersburg State University, Saint Petersburg, Russia., Barbitoff YA; Saint Petersburg State University, Saint Petersburg, Russia.; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint Petersburg, Russia.; Bioinformatics Institute, Saint Petersburg, Russia., Glotov AS; Saint Petersburg State University, Saint Petersburg, Russia.; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint Petersburg, Russia., Danilova MM; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint Petersburg, Russia., Tonyan ZN; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint Petersburg, Russia., Nasykhova YA; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint Petersburg, Russia., Mikhailova AA; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint Petersburg, Russia., Bespalova ON; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint Petersburg, Russia., Kalinin RS; Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia., Mirzorustamova AM; Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia., Kogan IY; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint Petersburg, Russia., Baranov VS; Saint Petersburg State University, Saint Petersburg, Russia.; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint Petersburg, Russia., Chernov AN; Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia., Pavlovich DM; Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia., Azarenko SV; Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia., Fedyakov MA; Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia., Tsay VV; Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia., Eismont YA; Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia., Romanova OV; Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia., Hobotnikov DN; Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia., Vologzhanin DA; Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia., Mosenko SV; Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia., Ponomareva TA; Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia., Talts YA; Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia., Anisenkova AU; Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia., Lisovets DG; Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia., Sarana AM; Saint Petersburg State University, Saint Petersburg, Russia., Urazov SP; Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia., Scherbak SG; Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia.; Saint Petersburg State University, Saint Petersburg, Russia., Glotov OS; Genetics Laboratory, City Hospital No. 40, Saint Petersburg, Russia.; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint Petersburg, Russia.

Publikováno v: Frontiers in genetics [Front Genet] 2020 Sep 29; Vol. 11, pp. 551220. Date of Electronic Publication: 2020 Sep 29 (Print Publication: 2020).

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