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Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.

Autor: Marakhonov AV; Research Centre for Medical Genetics, Moscow, Russia. marakhonov@generesearch.ru., Efimova IY; Research Centre for Medical Genetics, Moscow, Russia., Mukhina AA; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Zinchenko RA; Research Centre for Medical Genetics, Moscow, Russia., Balinova NV; Research Centre for Medical Genetics, Moscow, Russia., Rodina Y; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Pershin D; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Ryzhkova OP; Research Centre for Medical Genetics, Moscow, Russia., Orlova AA; Research Centre for Medical Genetics, Moscow, Russia., Zabnenkova VV; Research Centre for Medical Genetics, Moscow, Russia., Cherevatova TB; Research Centre for Medical Genetics, Moscow, Russia., Beskorovainaya TS; Research Centre for Medical Genetics, Moscow, Russia., Shchagina OA; Research Centre for Medical Genetics, Moscow, Russia., Polyakov AV; Research Centre for Medical Genetics, Moscow, Russia., Markova ZG; Research Centre for Medical Genetics, Moscow, Russia., Minzhenkova ME; Research Centre for Medical Genetics, Moscow, Russia., Shilova NV; Research Centre for Medical Genetics, Moscow, Russia., Larin SS; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Khadzhieva MB; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Dudina ES; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Kalinina EV; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Mudaeva DA; Republican Perinatal Center, Grozny, Russia., Saydaeva DH; State Budgetary Institution 'Maternity Hospital' of the Ministry of Healthcare of the Chechen Republic, Grozny, Russia., Matulevich SA; S.V. Ochapovsky Regional Clinical Hospital №1, Krasnodar, Russia., Belyashova EY; Orenburg Regional Clinical Hospital No. 2, Orenburg, Russia., Yakubovskiy GI; Ryazan Regional Clinical Perinatal Center, Ryazan, Russia., Tebieva IS; North-Ossetian State Medical Academy, Vladikavkaz, Russia.; Republican Childrens Clinical Hospital of the Republic of North Ossetia-Alania, Vladikavkaz, Russia., Gabisova YV; Republican Childrens Clinical Hospital of the Republic of North Ossetia-Alania, Vladikavkaz, Russia., Irinina NA; State Budgetary Healthcare Institution of the Vladimir Region 'Regional Clinical Hospital', Vladimir, Russia., Nurgalieva LR; Republican Center for Medical Genetics, Ufa, Russia., Saifullina EV; Bashkir State Medical University, Ufa, Russia., Belyaeva TI; Clinical Diagnostic Center 'Maternal and Child Health', Yekaterinburg, Russia., Romanova OS; Clinical Diagnostic Center 'Maternal and Child Health', Yekaterinburg, Russia., Voronin SV; Research Centre for Medical Genetics, Moscow, Russia., Shcherbina A; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Kutsev SI; Research Centre for Medical Genetics, Moscow, Russia.

Publikováno v: Journal of clinical immunology [J Clin Immunol] 2024 Apr 05; Vol. 44 (4), pp. 93. Date of Electronic Publication: 2024 Apr 05.

The Technology of Homogeneous Scar Tissue Creating as a Result of Ablation of the Atrial Wall with a Radiofrequency Bipolar Clamp: an Experimental and Clinical Study.

Autor: Vachev SA; Federal Research and Clinical Center of Specialized Medical Care and Medical Technologies Department of Cardiac Surgery Moskva Russia Department of Cardiac Surgery, Federal Research and Clinical Center of Specialized Medical Care and Medical Technologies, Federal Medical and Biological Agency of the Russian Federation, Moskva, Russia., Zabozlaev FG; Federal Research and Clinical Center of Specialized Medical Care and Medical Technologies Department of Pathological Anatomy Moskva Russia Department of Pathological Anatomy, Federal Research and Clinical Center of Specialized Medical Care and Medical Technologies, Federal Medical and Biological Agency of the Russian Federation, Moskva, Russia., Voronin SV; Federal Research and Clinical Center of Specialized Medical Care and Medical Technologies Department of Anesthesiology Moskva Russia Department of Anesthesiology, Federal Research and Clinical Center of Specialized Medical Care and Medical Technologies, Federal Medical and Biological Agency of the Russian Federation, Moskva, Russia., Chernavina EA; Federal Research and Clinical Center of Specialized Medical Care and Medical Technologies Department of Pathological Anatomy Moskva Russia Department of Pathological Anatomy, Federal Research and Clinical Center of Specialized Medical Care and Medical Technologies, Federal Medical and Biological Agency of the Russian Federation, Moskva, Russia., Troitskii AV; Federal Research and Clinical Center of Specialized Medical Care and Medical Technologies Department of Cardiac Surgery Moskva Russia Department of Cardiac Surgery, Federal Research and Clinical Center of Specialized Medical Care and Medical Technologies, Federal Medical and Biological Agency of the Russian Federation, Moskva, Russia.

Publikováno v: Brazilian journal of cardiovascular surgery [Braz J Cardiovasc Surg] 2023 May 04; Vol. 38 (3), pp. 360-366. Date of Electronic Publication: 2023 May 04.

Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.

Autor: Bliznetz EA; The Federal Agency for Scientific Organizations, Federal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, Russia., Lalayants MR; Federal Medical and Biological Agency, Federal State-Funded Institution of Science, National Research Center for Audiology and Hearing Rehabilitation, Moscow, Russia., Markova TG; Federal Medical and Biological Agency, Federal State-Funded Institution of Science, National Research Center for Audiology and Hearing Rehabilitation, Moscow, Russia., Balanovsky OP; The Federal Agency for Scientific Organizations, Federal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, Russia.; The Russian Academy of Sciences, Federal State-Funded Institution of Science, Vavilov Institute of General Genetics, Moscow, Russia., Balanovska EV; The Federal Agency for Scientific Organizations, Federal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, Russia., Skhalyakho RA; The Federal Agency for Scientific Organizations, Federal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, Russia.; The Russian Academy of Sciences, Federal State-Funded Institution of Science, Vavilov Institute of General Genetics, Moscow, Russia., Pocheshkhova EA; The Ministry of Health, Federal State-Funded Educational Institution of Higher Education, Kuban State Medical University, Krasnodar, Russia., Nikitina NV; The Ministry of Health, State Budgetary Healthcare Institution, Clinical-Diagnostic Center of Mother and Child Health Protection, Yekaterinburg, Russia., Voronin SV; State Autonomous Healthcare Institution, Regional Clinical Center of Specialized Medical Care, Vladivostok, Russia., Kudryashova EK; The Ministry of Health, State Budgetary Healthcare Institution, Leningrad Regional Clinical Hospital, Saint Petersburg, Russia., Glotov OS; Federal State Budgetary Educational Institution of Higher Education, Saint Petersburg University, Saint Petersburg, Russia., Polyakov AV; The Federal Agency for Scientific Organizations, Federal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, Russia.

Publikováno v: Journal of human genetics [J Hum Genet] 2017 Aug; Vol. 62 (8), pp. 789-795. Date of Electronic Publication: 2017 Apr 13.