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Наши публикации в журналах с импакт-фактором больше 1 за 2018 год

A novel MF9D8 mutation in a russian patient with neuronal ceroid lipo-fuscinicistype 7 a case report. Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova,Anna Yurievna Krasnenko, Kirill Yurievich Tsukanov, Olesya Igorevna Klimchuk, Olga Borisovna Kondakova,Anna Nikolaevna Larionova, Tatyana Timofeevna Batysheva, Ekaterina Ivanovna Surkova,Peter Alekseevich Shatalov and Valery Vladimirovich Ilinsky. BMC Medical Genetics 2018:19:150-155

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A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy. Goemans N., Mercuri E., Belousova E, Komaki H. , Dubrovsky D., McDonald C.M., Kraus J.E, Lourbakos A., Lin Z., Campion G, Wang S.X., Campbell C. for the DEMAND III study group. Neuromuscular Disorders Т. 28. № 1. С. 4-15.

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ANGIOMYOLIPOMA REBOUND TUMOR GROWTH AFTER DISCONTINUATION OF EVEROLIMUS IN PATIENTS WITH TUBEROUS SCLEROSIS COMPLEX OR SPORADIC LYMPHANGIOLEIOMYOMATOSIS Bissler J.J., Nonomura N., Budde K., Zonnenberg B.A., Fischereder M., Voi M., Louveau A.L., Herbst F., Bebin E.M., Curatolo P., Zonta A., Belousova E. PLoS ONE. 2018. Т. 13. № 9. С. e0201005.

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Clinical and Molecular Characteristics of Russian Patients with Homocystinuria due to Cystathionine Beta-Synthase Deficiency. Semyachkina A., Voskoboeva E., Yablonskya M., Nikolaeva E. J Neurol Neurophysiol 2018; 9: 458. DOI: 10.4172/2155-9562.1000458

De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features. Ekaterina R. Lozier, Fedor A. Konovalov, Ilya V. Kanivets,Denis V. Pyankov, Philip A. Koshkin, Larisa S. Baleva, Alla E. Sipyagina, Elena N. Yakusheva, Anastasiya E. Kuchina, Sergey A. Korostelev. Journal of Human Genetics. Published on line 14 May 2018.

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De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. F. Tran Mau-Them, L. Guibaud, L. Duplomb...A. Sharkov...A. Vitobello. Genetics in Medicine; 2018

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Effect of everolimus on skin lesions in patients treated for subependymal giant cell astrocytoma and renal angiomyolipoma: final 4-year results from the randomized 1 EXIST-1 and EXIST-2 studies D.N. Franz, K. Budde, J.C. Kingswood, E. Belousova et al Journal of the European Academy of Dermatology and Venereology 2018; DOI: 10.1111/jdv.14964

Expert consensus guidelines for the genetic diagnosis of Alport syndrome Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J,Garosi G,Storey H. Pediatric Nephrology. 07.2018; DOI: doi: 10.1007/s00467-018-3985-4.

Genetically encodable bioluminescent system from fungi. Kotlobay AA, Sarkisyan KS, Mokrushina YA, Marcet-Houben M, Serebrovskaya EO, Markina NM, Gonzalez Somermeyer L, Gorokhovatsky AY, Vvedensky A, Purtov KV, Petushkov VN, Rodionova NS, Chepurnyh TV, Fakhranurova LI, Guglya EB, Ziganshin R, Tsarkova AS, Kaskova ZM, Shender V, Abakumov M, Abakumova TO, Povolotskaya IS, Eroshkin FM, Zaraisky AG, Mishin AS, Dolgov SV, Mitiouchkina TY, Kopantzev EP, Waldenmaier HE, Oliveira AG, Oba Y, Barsova E, Bogdanova EA, Gabaldón T, Stevani CV, Lukyanov S, Smirnov IV, Gitelson JI, Kondrashov FA, Yampolsky IV. Proc Natl Acad Sci U S A. 2018 Dec 11;115(50):12728-12732. doi: 10.1073/pnas.1803615115. Epub 2018 Nov 26.

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Levels of Growth Factors and IgA in the Colostrum of Women from Burundi and Italy Daniel Munblit, Priya Abrol ,Shreya Sheth ,Li Yan Chow ,Ekaterina Khaleva, Alan Asmanov, Silvana Lauriola, Ezio M. Padovani, Pasquale Comberiati, Attilio L. Boner, John O. Warner, Robert J. Boyle, Diego G. Peroni. Nutrients 2018, 10(9), 1216; doi:10.3390/nu10091216

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Molecular cyto(post)genomics. Yurov Y.B., Iourov I.Y. // Current Genomics. - 2018. - Vol.19,N 3. - P.157

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OBITUARY Yuri B. Yurov (1951-2017). Iourov I.Y., Vorsanova S.G. Molecular сytogenetics. 2018. - 11:36. - 9p.

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Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis. Suspitsin E.N., Yanus G.A., Dorofeeva M.Y.,Ledashcheva T.A., Nikitina N.V., Buyanova G.V., Saifullina E.V., Sokolenko A.P., Imyanitov E.N. Journal of Human Genetics; 2018

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PREVALENCE OF HYPERTENSION IN CHILDREN WITH EARLY-STAGE ADPKD. Laura Massella, Djalila Mekahli, Dusan Paripovic, Larisa Prikhodina, Svetlana Papizh, et al. Clin J Am Soc Nephrol 13: ccc–ccc, 2018. Published online: April 19, 2018.

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Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness. Kingswood JC1, Belousova E2, Benedik MP3, Carter T4, Cottin V5, Curatolo P6, Dahlin M7, D' Amato L8, d'Augères GB9, de Vries PJ10, Ferreira JC11, Feucht M12, Fladrowski C13,14, Hertzberg C15, Jozwiak S16,17, Lawson JA18, Macaya A19, Marques R8,20, Nabbout R21, O'Callaghan F22, Qin J23, Sander V24, Sauter M25, Shah S26, Takahashi Y27, Touraine R28, Youroukos S29, Zonnenberg B30,de Jansen AC31. Nephrol Dial Transplant. 2018 Apr 25.

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RISK FACTORS FOR EARLY DIALYSIS DEPENDENCY IN AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE. Kathrin Burgmaier, Kevin Kunzmann, Gema Ariceta, Carsten Bergmann, Anja Katrin Buescher, Larisa Prikhodina, Svetlana Papizh, ESCAPE Study Group, GPN Study Group, et al. The Journal of Pediatrics. Published online: May 9, 2018

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The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma. Bissler, JJ ; Franz, DN ]; Frost, MD, Belousova E, Bebin, EM; Sparagana, S ; Berkowitz, N ; Ridolfi, A; Kingswood, JC. Pediatric Nephrology; 2018; 33(1): 101-109

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TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study. de Vries, PJ., Belousova E.D., Benedik M.P., Curatolo, P., Dahlin, M., D'Amato L., d'Augeres G.B., Ferreira J.C., Vries P.J., // ORPHANET JOURNAL OF RARE DISEASES. - 2018. - V.13. https://doi.org/10.1186/s13023-018-0901-8

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АУТОИММУННЫЙ ГЕПАТИТ У ДЕТЕЙ: СОВРЕМЕННОЕ СОСТОЯНИЕ ПРОБЛЕМЫ Волынец Г.В., Хавкин А.И., Скворцова Т.А., Маткаш В.В. Российский журнал гастроэнтерологии, гепатологии, колопроктологии. 2018. Т. 28. № 5. С. 18-34.

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Современная стратегия терапии легочной гипертензии у детей. Миклашевич И.М., Школьникова М.А., Горбачевский С.В., Шмальц А.А., Грознова О.С., Садыкова Д.И., Яковлева Л.В., Дегтярев Д.Н., Буров А.А., Овсянников Д.Ю., Волков А.В. Кардиоваскулярная терапия и профилактика. 2018; 17 (2)

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