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Наши публикации в журналах Q1

Toward personalization of asthma treatment according to trigger factors. Niespodziana K, Borochova K, Pazderova P, Schlederer T, Astafyeva N, Baranovskaya T, Barbouche MR, Beltyukov E, Berger A, Borzova E, Bousquet J, Bumbacea RS, Bychkovskaya S, Caraballo L, Chung KF, Custovic A, Docena G, Eiwegger T, Evsegneeva I, Emelyanov, O'Byrne PM, Osier F, Pampura AN,. J Allergy Clin Immunol. 06.2020; 145(6):1529-1534.

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Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Dervla M Connaughton, Rufeng Dai, Danielle J Owen, ..., Inna S Povolotskaya, Natalia Scherbakova, Victoria Voinova..et al. American Journal of Human Genetics VOLUME 107, ISSUE 4, P727-742

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Updating the International IgA Nephropathy Prediction Tool for use in children. Sean J. Barbour, Rosanna Coppo, Lee Er, Larisa Prikhodina, Ulla Berg, Rezan Topaloglu, Malgorzata Mizerska-Wasiak, Aikaterini Papagianni, Shubha S. Bellur, Ian Roberts. Kidney International, 2020, ISSN 0085-2538, https://doi.org/10.1016/j.kint.2020.10.033

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Primary Immunodeficiencies in Russia: Data From the National Registry. Mukhina A.A, Kuzmenko N.B., Rodina Y.A., Kondratenko I.V., Bologov A.A., Latysheva T.V., Prodeus A.P., Pampura A.N. et al. Front Immunol 2020, 6;11:1491.doi: 10.3389/fimmu.2020.01491

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Pregabalin Adjunctive Therapy for Focal Onset Seizures in Children 1 Month to 4 Years of Age: A Double-Blind, Placebo-Controlled, Video-Electroencephalographic Trial Donald Mann , Jeremias Antinew , Lloyd Knapp , Mary Almas , Jing Liu , Joseph Scavone , Ruoyong Yang , Margaret Modequillo , Iryna Makedonska , Marilyn Ortiz , Alla Kyrychenko , Douglas Nordli , Viktor Farkas , Mark Kristof Farkas, Belousova E, Tomasovic J. Epilepsia. 02.2020; 61(4):617-626. DOI: 10.1111/epi.16466.

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Copy Number Variants and Fixed Duplications Among 198 Rhesus Macaques (Macaca Mulatta). Marina Brasó-Vives, Inna SPovolotskaya, Diego AHartasánchez, Xavier Farré, Marcos Fernandez-Callejo, Muthuswamy Raveendran, RAlan Harris, Douglas LRosene, Belen Lorente-Galdos, Arcadi Navarro, Tomas Marques-Bonet. PLoS Genetics. 05.2020; 16(5):1-35. https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1008742

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Quality of life associated with maternal anxiety disorder in Russian children and adolescents with food allergy. DunnGalvin A., Munblit D., Treneva M., Pampura A., Grebenko A., Makatsori M. Pediatric Allergy and Immunology. 2020. Т. 31. № 1. С. 78-84

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Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy. H K Robinson 1, E Zaklyazminskaya 2 3, I Povolotskaya 3, Y Surikova 2, L Mallin 1, C Armstrong 4, D Mabin 5, P J Benke 6 7, M R Chrisant 6, M McDonald 8, C C Marboe 9, K E Agre 10, D R Deyle 10, K McWalter 11, G Douglas 11, M S Balashova 3 12, V Kaimonov 3, N Shirokova 3, E Pomerantseva 3, C L Turner 13, S Ellard 1 14 Clinical Genetics 98(4):331-340

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Treatment and long-term outcome in primary nephrogenic diabetes insipidus. Lopez-Garcia SC, Downie ML, Kim JS, Boyer O, Walsh SB, Nijenhuis T, Papizh S, et al. Nephrol Dial Transplant. 2020 Dec 26:gfaa243. doi: 10.1093/ndt/gfaa243. Epub ahead of print. PMID: 33367818

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Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD). Burgmaie, K., Ariceta G., Bald M., (…), the ARegPKD consortium, в т.ч. Prikhodina L. Scientific Reports 2020, 10, 16025 (2020). https://doi.org/10.1038/s41598-020-71956-1

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Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project. de Vries, P.J., Belousova, E., Benedik, M.P. et al J Neurodevelop Disord 2020; 12 (24 ) https://doi.org/10.1186/s11689-020-09327-0

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Professor Maya S. Ignatova (1929–2019). Prikhodina L, Dlin V. Pediatric Nephrology. 03.2020; 35(6):1139-1140

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Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature Anna Khoreva,1 Ekaterina Pomerantseva,2 Natalia Belova,3 Inna Povolotskaya,2,4 Fedor Konovalov,5 Vladimir Kaimonov,2 Alena Gavrina,3 Sergey Zimin,6 Dmitrii Pershin,1 Nataliia Davydova,6 Vasilii Burlakov,1 Ekaterina Viktorova,1 Anna Roppelt,1 Ekaterina Kalinina,1 Galina Novichkova,1 and Anna Shcherbina1,* Frontiers in Pediatrics 8: 577

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Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome. Voinova V.Y. European Journal of Medical Genetics, https://www.sciencedirect.com/science/article/pii/S1769721220307989

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Serious Hemorrhagic Complications After Successful Treatment of Hematopoietic Stem Cell Transplantation-Associated Thrombotic Microangiopathy With Defibrotide in Pediatric Patient With Myelodysplastic Syndrome. Laberko Alexandra, Aksenova Marina, Shipitsina Irina, Khamin Igor, Shcherbina Anna, Balashov Dmitry, Maschan Alexei. Frontiers in Pediatrics. 05.2020; -(8):155-158. DOI: 10.3389/fped.2020.00155

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