Výsledky vyhledávání - "Korostelev SA"

Akademický článek

[Molecular genetics in diagnosis of Coats disease: combination of oligogenic variants associated with different forms of hereditary retinal dystrophy].

Autor: Vasilyeva TA; Research Centre for Medical Genetics, Moscow, Russia., Kadyshev VV; Research Centre for Medical Genetics, Moscow, Russia., Marakhonov AV; Research Centre for Medical Genetics, Moscow, Russia., Kanivets IV; Russian Medical Academy of Continuous Professional Education, Moscow, Russia.; OOO Genomed, Moscow, Russia., Korostelev SA; OOO Genomed, Moscow, Russia.; I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia., Koshkin PA; OOO Genomed, Moscow, Russia., Pyankov DV; OOO Genomed, Moscow, Russia., Petrova NV; Research Centre for Medical Genetics, Moscow, Russia., Kutsev SI; Research Centre for Medical Genetics, Moscow, Russia., Zinchenko RA; Research Centre for Medical Genetics, Moscow, Russia.; N.A. Semashko National Research Institute of Public Health, Moscow, Russia.

Publikováno v: Vestnik oftalmologii [Vestn Oftalmol] 2023; Vol. 139 (1), pp. 69-74.

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Akademický článek

SNP-Based Chromosomal Microarray Analysis for Detecting DNA Copy Number Variations in Fetuses with a Thickened Nuchal Fold.

Autor: Kievskaya JK; Geneticist; Genomed Ltd., 8, Bldg 5 Podolskoe Shosse, Moscow, 115093, Russia., Shilova NV; Head of the Laboratory of Molecular Cytogenetics; Research Centre for Medical Genetics, 1 Moskvorechye St., Moscow, 115522, Russia., Kanivets IV; Geneticist; Genomed Ltd., 8, Bldg 5 Podolskoe Shosse, Moscow, 115093, Russia; Associate Professor, Department of Medical Genetics; Russian Medical Academy of Continuous Professional Education, 2/1, Bldg 1 Barricadnaya St., Moscow, 125993, Russia., Kudryavtseva EV; Associate Professor, Department of Obstetrics and Gynecology; Ural State Medical University, 3 Repina St., Ekaterinburg, 620028, Russia., Pyankov DV; Head of the Laboratory, Geneticist; Genomed Ltd., 8, Bldg 5 Podolskoe Shosse, Moscow, 115093, Russia., Korostelev SA; Professor, General Director; Genomed Ltd., 8, Bldg 5 Podolskoe Shosse, Moscow, 115093, Russia.

Publikováno v: Sovremennye tekhnologii v meditsine [Sovrem Tekhnologii Med] 2021; Vol. 13 (6), pp. 72-76. Date of Electronic Publication: 2021 Dec 28.

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Akademický článek

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region.

Autor: Vasilyeva TA; Research Centre for Medical Genetics, Moscow, Russian Federation. vasilyeva_debrie@mail.ru., Marakhonov AV; Research Centre for Medical Genetics, Moscow, Russian Federation. marakhonov@generesearch.ru., Minzhenkova ME; Research Centre for Medical Genetics, Moscow, Russian Federation., Markova ZG; Research Centre for Medical Genetics, Moscow, Russian Federation., Petrova NV; Research Centre for Medical Genetics, Moscow, Russian Federation., Sukhanova NV; Central Clinical Hospital of the Russian Academy of Sciences, Moscow, Russian Federation., Koshkin PA; Genomed Ltd., Moscow, Russian Federation., Pyankov DV; Genomed Ltd., Moscow, Russian Federation., Kanivets IV; Genomed Ltd., Moscow, Russian Federation., Korostelev SA; I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation., Krynskaya IA; Research Centre for Medical Genetics, Moscow, Russian Federation., Shilova NV; Research Centre for Medical Genetics, Moscow, Russian Federation., Kutsev SI; Research Centre for Medical Genetics, Moscow, Russian Federation., Kadyshev VV; Research Centre for Medical Genetics, Moscow, Russian Federation., Zinchenko RA; Research Centre for Medical Genetics, Moscow, Russian Federation.; N.A. Semashko National Research Institute of Public Health, Moscow, Russian Federation.

Publikováno v: BMC medical genomics [BMC Med Genomics] 2020 Sep 18; Vol. 13 (Suppl 8), pp. 130. Date of Electronic Publication: 2020 Sep 18.

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Akademický článek

Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene.

Autor: Kurkina MV; Federal State Budgetary Scientific Institution, Research Centre for Medical Genetics (FSBI, RCMG), Moskvorechie 1, Moscow, 115522, Russia. kurkina_marina87@mail.ru., Mihaylova SV; Russian Children's Clinical Hospital of the Federal Autonomous Educational Institute of Higher Education, Russian National Medical Research University named after N.I. Pyrogov, Ministry of Health of the Russian Federation, Moscow, Russia., Baydakova GV; Federal State Budgetary Scientific Institution, Research Centre for Medical Genetics (FSBI, RCMG), Moskvorechie 1, Moscow, 115522, Russia., Saifullina EV; Bashkir State Medical University, Ufa, Russia., Korostelev SA; Federal State Autonomous Educational Institution of Higher Education, I.M. Sechenov First Moscow State Medical University of the Ministry of Healthcare of the Russian Federation (Sechenovskiy University), Moscow, Russia., Pyankov DV; Ministry of Health of the Russian Federation, Genomed ltd, Moscow, Russia., Kanivets IV; Ministry of Health of the Russian Federation, Genomed ltd, Moscow, Russia.; Russian Medical Academy of Continuous Professional Education, Moscow, Russia., Yunin MA; Federal State Budgetary Scientific Institution, Research Centre for Medical Genetics (FSBI, RCMG), Moskvorechie 1, Moscow, 115522, Russia., Pechatnikova NL; Morozov Children's City Clinical Hospital, Moscow, Russia., Zakharova EY; Federal State Budgetary Scientific Institution, Research Centre for Medical Genetics (FSBI, RCMG), Moskvorechie 1, Moscow, 115522, Russia.

Publikováno v: Metabolic brain disease [Metab Brain Dis] 2020 Aug; Vol. 35 (6), pp. 1009-1016. Date of Electronic Publication: 2020 Apr 02.

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Akademický článek

[Epigenomic variations manifesting as a loss of heterozygosity affecting imprinted genes represent a molecular mechanism of autism spectrum disorders and intellectual disability in children].

Autor: Iourov IY; Mental Health Research Center, Moscow, Russia; Veltishchev Research Clinical Institute of Pediatric of Pirogov Russian National Research Medical University, Moscow, Russia; Russian Medical Academy for Postgraduate Continuing Education, Moscow, Russia., Vorsanova SG; Mental Health Research Center, Moscow, Russia; Veltishchev Research Clinical Institute of Pediatric of Pirogov Russian National Research Medical University, Moscow, Russia., Zelenova MA; Mental Health Research Center, Moscow, Russia; Veltishchev Research Clinical Institute of Pediatric of Pirogov Russian National Research Medical University, Moscow, Russia., Vasin KS; Mental Health Research Center, Moscow, Russia; Veltishchev Research Clinical Institute of Pediatric of Pirogov Russian National Research Medical University, Moscow, Russia., Kurinnaia OS; Mental Health Research Center, Moscow, Russia; Veltishchev Research Clinical Institute of Pediatric of Pirogov Russian National Research Medical University, Moscow, Russia., Korostelev SA; Sechenov First Moscow State Medical University, Moscow, Russia., Yurov YB; Mental Health Research Center, Moscow, Russia; Veltishchev Research Clinical Institute of Pediatric of Pirogov Russian National Research Medical University, Moscow, Russia.

Publikováno v: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova [Zh Nevrol Psikhiatr Im S S Korsakova] 2019; Vol. 119 (5), pp. 91-97.

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Akademický článek

De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features.

Autor: Lozier ER; Genomed Ltd, Moscow, Russia. ekaterina.lozier@gmail.com., Konovalov FA; Genomed Ltd, Moscow, Russia., Kanivets IV; Genomed Ltd, Moscow, Russia., Pyankov DV; Genomed Ltd, Moscow, Russia., Koshkin PA; Genomed Ltd, Moscow, Russia., Baleva LS; Scientific Clinical Institute of Pirogov Pediatric Russian National Medical University, Moscow, Russia., Sipyagina AE; Scientific Clinical Institute of Pirogov Pediatric Russian National Medical University, Moscow, Russia., Yakusheva EN; Scientific Clinical Institute of Pirogov Pediatric Russian National Medical University, Moscow, Russia., Kuchina AE; Scientific Clinical Institute of Pirogov Pediatric Russian National Medical University, Moscow, Russia., Korostelev SA; Genomed Ltd, Moscow, Russia.; Sechenov University, Moscow, Russia.

Publikováno v: Journal of human genetics [J Hum Genet] 2018 Jul; Vol. 63 (8), pp. 919-922. Date of Electronic Publication: 2018 May 14.

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Akademický článek

[BRAF-positive paucicellular variant of anaplastic carcinoma in the presence of tall cell variant papillary thyroid cancer].

Autor: Dolzhansky OV; Academician B.V. Petrovsky Russian Surgery Research Center, Moscow, Russia., Paltseva EM; Academician B.V. Petrovsky Russian Surgery Research Center, Moscow, Russia., Khmelkova DN; OOO 'Genomed', Moscow, Russia., Konovalov FA; OOO 'Genomed', Moscow, Russia; Research Center of Medical Genetics, Moscow, Russia., Kanivets IV; OOO 'Genomed', Moscow, Russia; Research Center of Medical Genetics, Moscow, Russia., Lavrov AV; Research Center of Medical Genetics, Moscow, Russia., Pyankov DV; OOO 'Genomed', Moscow, Russia; Research Center of Medical Genetics, Moscow, Russia., Korostelev SA; OOO 'Genomed', Moscow, Russia; Research Center of Medical Genetics, Moscow, Russia., Levendyuk OA; City Clinical Hospital Fifty-Seven, Moscow Healthcare Department, Moscow, Russia., Pominalnaya VM; City Clinical Hospital Fifty-Seven, Moscow Healthcare Department, Moscow, Russia., Fedorov DN; Academician B.V. Petrovsky Russian Surgery Research Center, Moscow, Russia.

Publikováno v: Arkhiv patologii [Arkh Patol] 2017; Vol. 79 (3), pp. 27-33.

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