Search Results - "трансляционная медицина"

Source: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 65, № 3 (2020); 25-31 ; Российский вестник перинатологии и педиатрии; Том 65, № 3 (2020); 25-31 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2020-65-3

Subject Terms: трансляционная медицина, MECP2 gene, chromosome Х, Xq28 microdeletions, rare (orphan) diseases, translational medicine, ген MECP2, хромосома Х, микроделеции участка Xq28, редкие (орфанные) заболевания

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Relation: https://www.ped-perinatology.ru/jour/article/view/1146/931; Iourov I.Y., Vorsanova S.G., Yurov Y.B., Bertrand T. VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia. Mol Cytogenet 2018; 11: 61. DOI:10.1186/s13039-018-0412-2.; Rett A. On an unusual brain atrophy syndrome in hyperammonemia in childhood (in German). Wien Med Wochenschr 1966; 116(37): 723–726.; Hagberg B., Aicardi J., Dias K. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett’s syndrome: report of 35 cases. Ann Neurol 1983; 14(4): 471–479. DOI:10.1002/ana.410140412; Amir R.E., Van den Veyver I.B., Wan M., Tran C.Q., Francke U., Zoghbi H.Y. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999; 23(2): 185–188. DOI:10.1038/13810; Neul J.L., Kaufmann W.E., Glaze D.G., Christodoulou J., Clarke A.J., Bahi-Buisson N. et al. Consortium RS. Rett syndrome: revised diagnostic criteria and omenclature. Ann Neurol 2010; 68(6): 944–950. DOI:10.1002/ana.22124; Dragich J., Houwink-Manville I., Schanen C. Rett syndrome: a surprising result of mutation in MECP2. Hum Mol Genet 2000; 9(16): 2365–2375. DOI:10.1093/hmg/9.16.2365; Van den Veyver I.B., Zoghbi H.Y. Genetic basis of Rett syndrome. Ment Retard Dev Disabil Res Rev 2002; 8(2): 82–86. DOI:10.1002/mrdd.10025; Huppke P., Held M., Laccone F., Hanefeld F. The spectrum of phenotypes in females with Rett syndrome. Brain and Development 2003; 25(5): 346–351. DOI:10.1016/S0387-7604(03)00018-4; Renieri A., Meloni I., Longo I., Ariani F., Mari F., Pescucci C., Cambi F. Rett syndrome: the complex nature of a monogenic disease. J Mol Med (Berl) 2003; 81(6): 346–354. DOI:10.1007/s00109-003-0444-9; Neul J.L., Zoghbi H.Y. Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist 2004; 10(2): 118–128. DOI:10.1177/1073858403260995; Vorsanova S.G., Iourov I.Y., Yurov Y.B. Neurological, genetic and epigenetic features of Rett syndrome. J Pediatr Neurol 2004; 2(4): 179–190. DOI:10.1055/s-0035-1557218; Villard L. MECP2 mutations in males. J Med Genet 2007; 44(7): 417–423. DOI:10.1136/jmg.2007.049452; Percy A.K. Progress in Rett syndrome: from discovery to clinical trials. Wien Med Wochenschr 2016; 166(11–12): 325–332. DOI:10.1007/s10354-016-0491-9; Leonard H., Cobb S., Downs J. Clinical and biological progress over 50 years in Rett syndrome. Nat Rev Neurol 2017; 13(1): 37–51. DOI:10.1038/nrneurol.2016.186; Lyst M.J., Bird A. Rett syndrome: a complex disorder with simple roots. Nat Rev Genet 2015; 16(5): 261–275. DOI:10.1038/nrg3897; Ip J.P.K., Mellios N., Sur M. Rett syndrome: insights into genetic, molecular and circuit mechanisms. Nat Rev Neurosci 2018; 19(6): 368–382. DOI:10.1038/s41583-018-0006-3; Qiu Z. Deciphering MECP2-associated disorders: disrupted circuits and the hope for repair. Curr Opin Neurobiol 2018; 48: 30–36. DOI:10.1016/j.conb.2017.09.004; Iourov I.Y., Vorsanova S.G., Kurinnaia O.S., Zelenova M.A., Silvanovich A.P., Yurov Y.B. Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies. Mol Cytogenet 2012; 5(1): 46. DOI:10.1186/1755-8166-5-46; Iourov I.Y., Vorsanova S.G., Voinova V.Y., Kurinnaia O.S., Zelenova M.A., Demidova I.A., Yurov Y.B. Xq28 (MECP2) microdeletions are common in mutation negative females with Rett syndrome and cause mild subtypes of the disease. Mol Cytogenet 2013; 6(1): 53. DOI:10.1186/1755-8166-6-53; Vorsanova S.G., Iourov I.Y., Voinova V.Y., Kurinnaia O.S., Zelenova M.A., Demidova I.A. et al. Subchromosomal microdeletion identified by molecular karyotyping using DNA microarrays (array CGH) in Rett syndrome girls negative for MECP2 gene mutations. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2013; 113(10): 63–68. (in Russ.); Lopes F., Barbosa M., Ameur A., Soares G., de Sá J., Dias A.I. et al. Identification of novel genetic causes of Rett syndrome-like phenotypes. J Med Genet 2016; 53(3): 190–199. DOI:10.1136/jmedgenet-2015-103568; Lucariello M., Vidal E., Vidal S., Saez M., Roa L., Huertas D. et al. Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. Hum Genet 2016; 135(12): 1343–1354. DOI:10.1007/s00439-016-1721-3; Sajan S.A., Jhangiani S.N., Muzny D.M., Gibbs R.A., Lupski J.R., Glaze D.G. et al. Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med 2017; 19(1): 13–19. DOI:10.1038/gim.2016.42; Iourov I.Y., Vorsanova S.G., Yurov Y.B. Somatic cell genomics of brain disorders:a new opportunity to clarify genetic-environmental interactions. Cytogenet Genome Res 2013; 139(3): 181–188. DOI:10.1159/000347053; Ehrhart F., Sangani N.B., Curfs L.M.G. Current developments in the genetics of Rett and Rett-like syndrome. Curr Opin Psychiatry 2018; 31(2): 103–108. DOI:10.1097/YCO.0000000000000389; Srivastava S., Desai S., Cohen J., Smith-Hicks C., Barañano K., Fatemi A., Naidu S. Monogenic disorders that mimic the phenotype of Rett syndrome. Neurogenetics 2018; 19(1): 41–47. DOI:10.1007/s10048-017-0535-3; Iourov I.Y., Vorsanova S.G., Yurov Y.B. In silico molecular cytogenetics: abioinformatic approach to prioritization of candidate genes and copy number variations for basic and clinical genome research. Mol Cytogenet 2014; 7(1): 98. DOI:10.1186/s13039-014-0098-z; Bashina V.M., Simashkova N.V., Gorbachevskaia N.L., Kozhushko L.F., Jakupova L.P. The clinical and neurophysiological aspects of Rett’s syndrome. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 1993; 3(3): 52–56. (in Russ.)]; Vorsanova S.G., Demidova I.A., Ulas V.Y., Soloviev I.V., Kazantzeva L.Z., Yurov Y.B. Cytogenetic and molecular-cytogenetic investigation of Rett syndrome: analysis of 31 cases. NeuroReport 1996; 8(1): 187–189.; Vorsanova S.G., Ulas V. Y., Demidova I.A., Kravets V.S., Yurov Y.B. Contemporary views on Rett’s syndrome: clinical, cytogenetic and molecular studies. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 1999; 99(3): 61–69. (in Russ.); Vorsanova S.G., Demidova I.A., Ulas V.Y., Soloviev I.V., Kravets V.S., Kazantseva L.Z., Yurov Y.B. Cytogenetic and molecular genetic diagnostics of Rett syndrome in children. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 1998; 98(4): 53–56. (in Russ.); Vorsanova S.G., Yurov Y.B., Ulas V.Y., Demidova I.A., Sharonin V.O., Kolotii A.D. et al. Cytogenetic and molecular cytogenetic studies of Rett syndrome (RTT): a retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys). Brain and Development 2001; 23(Suppl 1): S196–201. DOI:10.1016/S0387-7604(01)00347-3; Vorsanova S.G., Ulas V.Y., Yurov Y.B., Giovanucci-Uzielli M.L., Demidova I.A., Gianti L. et al. Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2002; 102(10): 23–29. (in Russ.); Gorbachevskaya N., Bashina V., Gratchev V., Iznak A. Cerebrolysin therapy in Rett syndrome: clinical and EEG mapping study. Brain and Development 2001; 23(Suppl 1): S90–93. DOI:10.1016/S0387-7604(01)00349-7; Gratchev V.V., Bashina V.M., Klushnik T.P., Ulas V.Yu., Gorbachevskaya N.L., Vorsanova S.G. Clinical, neurophysiological and immunological correlations in classical Rett syndrome. Brain and Development 2001; 23(Suppl 1): S108–112. DOI:10.1016/S0387-7604(01)00359-X; Klushnik T.P., Gratchev V.V., Belichenko P.V. Brain-directed autoantibodies levelsin the serum of Rett syndrome patients. Brain and Development 2001; 23(Suppl 1): S113–117. DOI:10.1016/S0387-7604(01)00353-9; Yurov Y.B., Vostrikov V.M., Vorsanova S.G., Monakhov V.V., Iourov I.Y. Multicolor fluorescent in situ hybridization on post-mortem brain in schizophrenia as an approach for identification of low-level chromosomal aneuploidy in neuropsychiatric diseases. Brain and Development 2001; 23(Suppl 1): S186–190. DOI:10.1016/S0387-7604(01)00363-1; Vorsanova S.G., Yurov Y.B., Kolotii A.D., Soloviev I.V. FISH analysis of replication and transcription of chromosome X loci: new approach for genetic analysis of Rett syndrome. Brain and Development 2001; 23(Suppl 1): S191–195. DOI:10.1016/S0387-7604(01)00364-3; Yurov Y.B., Vorsanova S.G., Kolotii A.D., Iourov I.Y. Molecular-cytogenetic investigation of skewed chromosome X inactivation in Rett syndrome. Brain and Development 2001; 23(Suppl 1): S214–217. DOI:10.1016/S0387-7604(01)00370-9; Iourov I.Y., Vorsanova S.G., Voinova-Ulas V. Y., Villard L., Demidova I.A., Gianti L. et al. Epigenetic study of Rett’s syndrome as an adequate model for autistic disorders. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2005; 105(7):4–11. (in Russ.); Iourov I.Y., Vorsanova S.G., Yurov Y.B. Nervous and mental diseases in boys and mutations in MECP2 gene. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2004; 104(10): 73–80. (in Russ.); Lombardi L.M., Baker S.A., Zoghbi H.Y. MECP2 disorders: from the clinic tomice and back. J Clin Invest 2015; 125(8): 2914–2923. DOI:10.1172/JCI78167; Lim Z., Downs J., Wong K., Ellaway C., Leonard H. Expanding the clinical picture of the MECP2 duplication syndrome. Clin Genet 2017; 91(4): 557–563. DOI:10.1111/cge.12814; Voinova V.Y., Vorsanova S.G., Yurov Y.B., Kolotii A.D., Davidova Y.I., Demidova I.A. et al. Clinical and genetic characteristics of the X chromosome distal long arm microduplications encompassing the MECP2 gene. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2015; 115(10):10–16. (in Russ.) DOI:10.17116/jnevro201511510110-16; Iourov I.Y., Vorsanova S.G., Voinova V.Y., Yurov Y.B. 3p22.1p21.31 microdeletion identifies CCK as Asperger syndrome candidate gene andshows the way for therapeutic strategies in chromosome imbalances. Mol Cytogenet 2015; 8: 82. DOI:10.1186/s13039-015-0185-9; Percy A. Rett syndrome: coming to terms with treatment. Adv Neurosci 2014; 2014: 345270. DOI:10.1155/2014/345270; Iourov I.Y., Vorsanova S.G., Voinova-Ulas V.Y., Novikov P.V., Yurov Y.B. Integrated clinical and genetic approach for diagnosis of Rett syndrome in children. Voprosy sovremennoi pediatrii 2007; 6(4): 38–42. (in Russ.); Townend G.S., Ehrhart F., van Kranen H.J., Wilkinson M., Jacobsen A., Roos M. et al. MECP2 variation in Rett syndrome – An overview of current coverage of genetic and phenotype data within existing databases. Hum Mutat 2018; 39(7): 914–924. DOI:10.1002/humu.23542; Gogliotti R.G., Niswender C.M. A coordinated attack: Rett syndrome therapeutic development. Trends Pharmacol Sci 2019; 40(4): 233–236. DOI:10.1016/j.tips.2019.02.007; Iourov I.Y., Vorsanova S.G., Yurov Y.B. Pathway-based classification of genetic diseases. Mol Cytogenet 2019; 12: 4. DOI:10.1186/s13039-019-0418-4; Miller R.A., Ehrhart F., Eijssen L.M.T., Slenter D.N., Curfs L.M.G., Evelo C.T. et al. Beyond pathway analysis: identification of active subnetworksin Rett syndrome. Front Genet 2019; 10: 59. DOI:10.3389/fgene.2019.00059; Banerjee A., Miller M.T., Li K., Sur M., Kaufmann W.E. Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder. Brain 2019; 142(2): 239–248. DOI:10.1093/brain/awy323; Iourov I.Y., Vorsanova S.G. Yurov Y.B. (1951–2017). Mol Cytogenet 2018; 11: 36. DOI:10.1186/s13039-018-0383-3

Availability: https://www.ped-perinatology.ru/jour/article/view/1146
https://doi.org/10.21508/1027-4065-2020-65-3-25-31

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6

Academic Journal

PERSONIFYED MEDICINE AS A GLOBAL OBJECTIVE TO DEVELOP INSURANCE AND SYSTEM MEDICINE ; ПЕРСОНИФИЦИРОВАННАЯ МЕДИЦИНА КАК ГЛОБАЛЬНАЯ ОБЪЕДИНЯЮЩАЯ ЦЕЛЬ РАЗВИТИЯ СТРАХОВОЙ И СИСТЕМНОЙ МЕДИЦИНЫ ; ПЕРСОНІФІКОВАНА МЕДИЦИНА ЯК ГЛОБАЛЬНА ОБ'ЄДНУЮЧА МЕТА РОЗВИТКУ СТРАХОВОЇ ТА СИСТЕМНОЇ МЕДИЦИНИ

Authors: Mintser, O.P., Gorshkov, Ye. V., Tverdokhlib, O. I., Popova, M. A., Hanynets, P. P., Sarkanych, O. V.

Source: Medical Informatics and Engineering; No 2 (2019); 38-44 ; Медицинская информатика и инженерия; № 2 (2019); 38-44 ; Медична інформатика та інженерія; № 2 (2019); 38-44 ; 1997-7468 ; 1996-1960 ; 10.11603/mie.1996-1960.2019.2

Subject Terms: personified medicine, insurance medicine, translational medicine, system medicine, ontology of knowledge, principle of cost sharing, moral hazard, персонифицированная медицина, страховая медицина, трансляционная медицина, системная медицина, онтологии знаний, принцип разделения затрат, моральный риск, персоніфікована медицина, страхова медицина, трансляційна медицина, системна медицина, онтології знань, принцип поділу витрат, моральний ризик

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Relation: https://ojs.tdmu.edu.ua/index.php/here/article/view/10317/9901; https://ojs.tdmu.edu.ua/index.php/here/article/view/10317; https://repository.tdmu.edu.ua//handle/123456789/11371

Availability: https://repository.tdmu.edu.ua//handle/123456789/11371
https://ojs.tdmu.edu.ua/index.php/here/article/view/10317
https://doi.org/10.11603/mie.1996-1960.2019.2.10317

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7

Academic Journal

Personalized Medicine ; Персонализированная медицина

Authors: Dedov I.I.

Source: Annals of the Russian academy of medical sciences; Vol 74, No 1 (2019); 61-70 ; Вестник Российской академии медицинских наук; Vol 74, No 1 (2019); 61-70 ; 2414-3545 ; 0869-6047 ; 10.15690/vramn741

Subject Terms: personalized medicine, translational medicine, evidence based medicine, healthcare, socially significant diseases, endocrinology, персонализированная медицина, трансляционная медицина, доказательная медицина, здравоохранение, социально-значимые заболевания, эндокринология

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Relation: https://vestnikramn.spr-journal.ru/jour/article/view/1108/1073

Availability: https://vestnikramn.spr-journal.ru/jour/article/view/1108
https://doi.org/10.15690/vramn1108

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8

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ORIGINS, ESTABLISHMENT AND TRADITION OF THE RESEARCH WORK IN LESGAFT NATIONAL STATE UNIVERSITY OF PHYSICAL EDUCATION, SPORT AND HEALTH

Authors: Sergey M. Ashkinazi

Source: Высшее образование в России, Vol 0, Iss 11, Pp 125-134 (2016)

Subject Terms: университет имени п.ф. лесгафта, научно-исследовательская работа, научно-педагогические школы, интеграция, кластер «трансляционная медицина», p.f. lesgaft university, research, scientific and pedagogical schools, integration, cluster «translational medicine», Education

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Relation: https://vovr.elpub.ru/jour/article/view/890; https://doaj.org/toc/0869-3617; https://doaj.org/toc/2072-0459

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9

Academic Journal

A dialogue with the cell: diagnostic real-time technology based on laser interferometry ; Диалог с клеткой: диагностическая real-time технология на основе лазерной интерферометрии

Authors: Vasilenko I.A., Metelin V.B., Ignat'ev P.S., Kardashova Z.Z., Lifenko R.A.

Source: Almanac of Clinical Medicine; Vol 46, No 8 (2018); 748-757 ; Альманах клинической медицины; Vol 46, No 8 (2018); 748-757 ; 2587-9294 ; 2072-0505 ; 10.18786/2072-0505-2018-46-8

Subject Terms: translational medicine, diagnostics, laser interference microscopy, platelets, morphofunctional state, oncology, трансляционная медицина, диагностика, лазерная интерференционная микроскопия, тромбоциты, морфофункциональное состояние, онкология

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Relation: https://almclinmed.ru/jour/article/view/935/943; https://almclinmed.ru/jour/article/downloadSuppFile/935/385; https://almclinmed.ru/jour/article/downloadSuppFile/935/386; https://almclinmed.ru/jour/article/downloadSuppFile/935/387; https://almclinmed.ru/jour/article/downloadSuppFile/935/388; https://almclinmed.ru/jour/article/view/935

Availability: https://almclinmed.ru/jour/article/view/935
https://doi.org/10.18786/2072-0505-2018-46-8-748-757

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10

Academic Journal

ИСТОКИ, СТАНОВЛЕНИЕ И ТРАДИЦИИ НАУЧНО-ИССЛЕДОВАТЕЛЬСКОЙ РАБОТЫ В НГУ ИМЕНИ П.Ф. ЛЕСГАФТА

Authors: АШКИНАЗИ СЕРГЕЙ МАКСИМОВИЧ

Subject Terms: УНИВЕРСИТЕТ ИМЕНИ П.Ф. ЛЕСГАФТА,НАУЧНО-ИССЛЕДОВАТЕЛЬСКАЯ РАБОТА,НАУЧНО-ПЕДАГОГИЧЕСКИЕ ШКОЛЫ,ИНТЕГРАЦИЯ,КЛАСТЕР "ТРАНСЛЯЦИОННАЯ МЕДИЦИНА",P.F. LESGAFT UNIVERSITY,RESEARCH,SCIENTIFIC AND PEDAGOGICAL SCHOOLS,INTEGRATION,CLUSTER "TRANSLATIONAL MEDICINE"

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11

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