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Наши публикации в журналах Q1

The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. Rodin, R.E., Dou, Y., Kwon, M. et al. Nat Neurosci 24, 176–185 (2021). https://doi.org/10.1038/s41593-020-00765-6

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Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia. Zhu, X., Zhou, B., Pattni, R. et al. Nat Neurosci 24, 186–196 (2021). https://doi.org/10.1038/s41593-020-00767-4

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Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants. Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group, Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Kidney Int. 2021 Apr 30:S0085-2538(21)00459-2. doi: 10.1016/j.kint.2021.04.019

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Chromosome Instability, Aging and Brain Diseases. Iourov IY, Yurov YB, Vorsanova SG, Kutsev SI. Cells. 2021; 10(5):1256. https://doi.org/10.3390/cells10051256

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Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia. Peter Sparber, Tatiana Krylova, Svetlana Repina, Nina Demina, Galina Rudenskaya, Inna Sharkova, Artem Sharkov, Vitaly Kadyshev, Ilya Kanivets, Sergey Korostelev, Ekaterina Pomerantseva, Vladimir Kaimonov, Svetlana Mikhailova, Ekaterina Zakharova, Mikhail Skoblov. Parkinsonism & Related Disorders. Volume 84, 2021, Pages 98-104, ISSN 1353-8020, https://doi.org/10.1016/j.parkreldis.2021.02.002.

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40-Hz Auditory Steady-State Response (ASSR) as a Biomarker of Genetic Defects in the SHANK3 Gene: A Case Report of 15-Year-Old Girl with a Rare Partial SHANK3 Duplication. Neklyudova AK, Portnova GV, Rebreikina AB, Voinova VYu, Vorsanova SG, Iourov IY, Sysoeva OV. International Journal of Molecular Sciences. 02.2021; 22(4):1898. DOI: 10.3390/ijms22041898

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Heterogeneous Recommendations for School Attendance in Children With Chronic Kidney Diseases During the COVID-19 Pandemic in Europe. Schild R, Hopf L, Loos S, Oh J, Levtchenko E, Prikhodina L. Frontiers in Pediatrics. 03.2021; 9(-):646-595. DOI: 10.3389/fped.2021.646595

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Spectrum of tubular dysfunction in Donnai-Barrow syndrome. Lessons for the clinical nephrologist. Aksenova M, Zaikova N, Lepaeva T. Journal of Nephrology. 01.2021; -(-):-. DOI: 10.1007/s40620-020-00890-2

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Aetiology, course and treatment of acute tubulointerstitial nephritis in paediatric patients: a cross-sectional web-based survey. Wente-Schulz S, Aksenova M, et al; international TIN study group. BMJ Open. 2021 May 28;11(5):e047059. doi: 10.1136/bmjopen-2020-047059

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A cookbook for DNase Hi-C Gridina M., Mozheiko E., Valeev E., Nazarenko L.P., Lopatkina M.E., Markova Z.G., Yablonskaya M.I., Voinova V.Y., Shilova N.V., Lebedev I.N., Fishman V. Epigenetics Chromatin 2021, 14, 1

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Copy number variation underlies complex phenotypes in domestic dog breeds and other canids. Serres-Armero, A., Davis, B. W., Povolotskaya, I. S., Morcillo-Suarez, C., Plassais, J., Juan, D., Ostrander, E. A., Marques-Bonet. Genome research 2021, 31(5), 762–774. https://doi.org/10.1101/gr.266049.120

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De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, Lemke JR, Bernat JA, Bombei HM, Foulds N, Hunt D, Kuechler A, Beygo J, Stöbe P, Bouman A, Palomares-Bralo M, Santos-Simarro F, Garcia-Minaur S, Pacio-Miguez M, Popp B, Vasileiou G, Hebebrand M, Reis A, Schuhmann S, Krumbiegel M, Brown NJ, Sparber P, Melikyan L, Bessonova L, Cherevatova T, Sharkov A, Shcherbakova N, Dabir T, Kini U, Schwaibold EMC, Haack TB, Bertoli M, Hoffjan S, Falb R, Shinawi M, Sticht H, Zweier C. Hum Mol Genet. 2021 Sep 9:ddab265

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Detection of circulating serum microRNA/protein complexes in ASD using functionalized chips for an atomic force

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Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD. Burgmaier K., Kilian S., Arbeiter K., (…) & The ARegPKD Consortium, including Prikhodina L. Sci Rep 11, 21677 (2021). https://doi.org/10.1038/s41598-021-00523-z

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Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases. Semyachkina A.N., Nikolaeva E.A., Galeeva N.Ma., Polyakov A.V., Kurnikova M.A., Belova V.А., Shulyakova I.V., Dantsev I.S., Dzhivanshiryan G.V. F1000Research 2021, 10, 502

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Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries. Selvatici R., Rossi R, Fortunato F.,… Vlodavets D, ….. Ferlini A. Neurol Genet. 2020 Dec 24;7(1):e536.

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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Johannesen K. M , Liu Y, Koko M , Gjerulfsen C. E., …Dadali E , Sharkov A., Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S. et al, Brain, 2021; awab321

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Impact of COVID-19 pandemic on use of rituximab among children with difficult nephrotic syndrome. Rajiv Sinha, Matko Marlais, Subhankar Sarkar, Varvara Obukhova et al. Pediatric Research (2021). https://doi.org/10.1038/s41390-021-01744-8

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Left Cardiac Sympathetic Denervation for Long QT Syndrome: 50 Years’ Experience Provides Guidance for Management Veronica Dusi, Luigi Pugliese, Gaetano M. De Ferrari, Attilio Odero, Lia Crotti, Federica Dagradi, Silvia Castelletti, Alessandro Vicentini, Roberto Rordorf, Cuilan Li, Maria Shkolnikova, Carla Spazzolini, Peter J. Schwartz JACC: Clinical Electrophysiology 27 October 2021

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Long-term transplantation outcomes in patients with Primary Hyperoxaluria Type 1 included in the European Hyperoxaluria Consortium (OxalEurope) Registry. Metry EL, Garrelfs SF, Hulton S-A, Acquaviva C, Bacchetta J, Beck BB, Collard L, Dwschenes G, Kemper MJ, Lipkin GW, Mandrile G, Mohebbi N, Moochhala SH, OOsterveld MJS, Prikhodina L, Hoppe B, Cochat P, Groothoff JW, OxalEurope Consortium. Kidney International Reports. November 25, 2021. https://doi.org/10.1016/j.ekir.2021.11.006 (ИФ: 4,162 (Q1)).

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Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region Peter J Schwartz, Cristina Moreno, Maria-Christina Kotta, Matteo Pedrazzini, Lia Crotti, Federica Dagradi, Silvia Castelletti, Kristina H Haugaa, Isabelle Denjoy, Maria A Shkolnikova, Paul A Brink, Marshall J Heradien, Sandrine R M Seyen, Roel L H M G Spätjens, Carla Spazzolini, Paul G A Volders European Heart Journal, ehab582, https://doi.org/10.1093/ eurheartj/ehab582 2021 Sep 10; ehab582

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Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go. Dangouloff, T., Vrščaj, E., Servais, L., Osredkar, D., Adoukonou, T,Vlodavets, D., Wanigasinghe, J., Wilmshurst, J., Xiong,H., Zafeiriou, D., Zamba, E. Neuromuscular Disorders, 2021,Jun;31(6):574-582.

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Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA). Sauter, M., Belousova, E., Benedik, M.P. et al. Orphanet J Rare Dis; 2021: 16, 301

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Risdiplam in Type 1 Spinal Muscular Atrophy. Baranello G, Darras BT, Day JW,... Vlodavets D... and Servais L; FIREFISH Working Group. N Engl J Med. 2021 Mar 11;384(10):915-923

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Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls. Darras B.T, Masson R., Mazurkiewicz‑Bełdzińska M. , . RoseK, Xiong H. , ZanoteliE., … Vlodavets D., .. And Servais L. N Engl J Med 2021;385:427-35. 2021;385:427-35.

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Seroprevalence of SARS-CoV-2 antibodies in Saint Petersburg, Russia: a population-based study. Barchuk A., Skougarevskiy,D., Titaev,K., Shirokov,D., Raskina,Y., Novkunkskaya,A., Talantov P., Isaev, A., Pomerantseva E., Zhikrivetskaya S., Barabanova L., & Volkov V. Scientific reports 2021, 11(1), 12930. https://doi.org/10.1038/s41598-021-92206-y

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STXBP1 germline mutation and focal cortical dysplasia. Sharkov A., Dulac O, Gataullina S. Epileptic Disord.; 2021 Feb 1;23(1):143-147

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The Cytogenomic “Theory of Everything”: Chromohelkosis May Underlie Chromosomal Instability and Mosaicism in Disease and Aging. Iourov I.Y., Vorsanova S.G., Yurov Y.B., Zelenova M.A., Kurinnaia O.S., Vasin K.S., Kutsev S.I. International Journal of Molecular Sciences 2020. – V.21, Art.8328. – 13p. (Не вошла в отчет 2020 года)

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Updating the International IgA Nephropathy Prediction Tool for use in children. Barbour SJ., Coppo R., Er L., Russo ML, Liu Z-H, Ding J., Katafuchi R., Yoshikawa N., Xu H., Kagami S., Yuzawa Y., Emma F., Cambier A., Peruzzi L., Wyatt R J., Cattran DC; for the International IgA Nephropathy Network, including Prikhodina L. Kidney International 2021; Vol. 99, Issue 6, p. 1439-1450

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