The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene.
Autorzy:
Ionova SA; Research Centre for Medical Genetics, Moskvorechie str. 1, 115522 Moscow, Russia. Murtazina AF; Research Centre for Medical Genetics, Moskvorechie str. 1, 115522 Moscow, Russia. Tebieva IS; North Ossetian State Medical Academy of the Ministry of Health of the Russian Federation, Pushkinskaya str. 40, 362019 Vladikavkaz, Russia.; Republican Children's Clinical Hospital, Barbashova str. 33, 362003 Vladikavkaz, Russia. Getoeva ZK; Pravoberezhnaya Central District Clinical Hospital, Kominterna str. 12, 363020 Beslan, Russia. DadaliEL; Research Centre for Medical Genetics, Moskvorechie str. 1, 115522 Moscow, Russia. Chausova PA; Research Centre for Medical Genetics, Moskvorechie str. 1, 115522 Moscow, Russia. Shchagina OA; Research Centre for Medical Genetics, Moskvorechie str. 1, 115522 Moscow, Russia. Marakhonov AV; Research Centre for Medical Genetics, Moskvorechie str. 1, 115522 Moscow, Russia. Kutsev SI; Research Centre for Medical Genetics, Moskvorechie str. 1, 115522 Moscow, Russia. Zinchenko RA; Research Centre for Medical Genetics, Moskvorechie str. 1, 115522 Moscow, Russia.; N.A. Semashko National Research Institute of Public Health, Vorontsovo Pole str. 12-1, 105064 Moscow, Russia.
Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.
Autorzy:
Markova TV; Research Centre for Medical Genetics, Moscow, Russia. Kenis V; H.Turner National Medical Research Center for Сhildren's Orthopedics and Trauma Surgery, Pushkin, Russia. Melchenko E; H.Turner National Medical Research Center for Сhildren's Orthopedics and Trauma Surgery, Pushkin, Russia. Guseva D; Research Centre for Medical Genetics, Moscow, Russia. Osipova D; Research Centre for Medical Genetics, Moscow, Russia. Galeeva N; Research Centre for Medical Genetics, Moscow, Russia. Nagornova T; Research Centre for Medical Genetics, Moscow, Russia. DadaliEL; Research Centre for Medical Genetics, Moscow, Russia.
KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.
Autorzy:
Rudenskaya GE; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics' (RCMG), Moscow, Russia. Kadnikova VA; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics' (RCMG), Moscow, Russia. . Ryzhkova OP; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics' (RCMG), Moscow, Russia. Bessonova LA; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics' (RCMG), Moscow, Russia. DadaliEL; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics' (RCMG), Moscow, Russia. Guseva DS; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics' (RCMG), Moscow, Russia. Markova TV; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics' (RCMG), Moscow, Russia. Khmelkova DN; 'Genomed' Ltd, Moscow, Russia. Polyakov AV; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics' (RCMG), Moscow, Russia.
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Źródło:
BMC neurology [BMC Neurol] 2020 Aug 03; Vol. 20 (1), pp. 290. Date of Electronic Publication: 2020 Aug 03.
Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.
Autorzy:
Zinchenko RA; Research Centre for Medical Genetics, 115522 Moscow, Russia.; N.A. Semashko National Research Institute of Public Health, 105064 Moscow, Russia. Makaov AK; Municipal Budgetary Health Care Setting 'Khabez Central District Hospital', 369400 Khabez, Russia. Marakhonov AV; Research Centre for Medical Genetics, 115522 Moscow, Russia. Galkina VA; Research Centre for Medical Genetics, 115522 Moscow, Russia. Kadyshev VV; Research Centre for Medical Genetics, 115522 Moscow, Russia. El'chinova GI; Research Centre for Medical Genetics, 115522 Moscow, Russia. DadaliEL; Research Centre for Medical Genetics, 115522 Moscow, Russia. Mikhailova LK; N.N. Priorov Central Research Institute of Traumatology and Orthopedics, 117997 Moscow, Russia. Petrova NV; Research Centre for Medical Genetics, 115522 Moscow, Russia. Petrina NE; Research Centre for Medical Genetics, 115522 Moscow, Russia. Vasilyeva TA; Research Centre for Medical Genetics, 115522 Moscow, Russia. Gundorova P; Research Centre for Medical Genetics, 115522 Moscow, Russia. Polyakov AV; Research Centre for Medical Genetics, 115522 Moscow, Russia. Alexandrova OY; Moscow Regional Research and Clinical Institute ('MONIKI'), 129110 Moscow, Russia. Kutsev SI; Research Centre for Medical Genetics, 115522 Moscow, Russia. Ginter EK; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.
Autorzy:
Marakhonov AV; Research Centre for Medical Genetics, Moscow, Russia. .; Moscow Institute of Physics and Technology, Dolgoprudny, Russia. .; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moskvorechie St., 1, Moscow, Russian Federation, 115478. . Konovalov FA; Genomed Ltd, Moscow, Russia. Makaov AK; Khabez central district hospital, Khabez, Russia. Vasilyeva TA; Research Centre for Medical Genetics, Moscow, Russia. Kadyshev VV; Research Centre for Medical Genetics, Moscow, Russia. Galkina VA; Research Centre for Medical Genetics, Moscow, Russia. DadaliEL; Research Centre for Medical Genetics, Moscow, Russia. Kutsev SI; Research Centre for Medical Genetics, Moscow, Russia.; Pirogov Russian National Research Medical University, Moscow, Russia.; Moscow State University of Medicine and Dentistry, Moscow, Russia. Zinchenko RA; Research Centre for Medical Genetics, Moscow, Russia.; Pirogov Russian National Research Medical University, Moscow, Russia.; Moscow State University of Medicine and Dentistry, Moscow, Russia.
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Źródło:
BMC medical genomics [BMC Med Genomics] 2018 Feb 13; Vol. 11 (Suppl 1), pp. 8. Date of Electronic Publication: 2018 Feb 13.
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