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Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.
Clin Genet. 2020 Sep;98(3):231-239. doi: 10.1111/cge.13789. Epub 2020 Jun 17.
Clin Genet. 2020.
PMID: 32441320
ATM mutation spectrum in Russian children with ataxia-telangiectasia.
Suspitsin E, Sokolenko A, Bizin I, Tumakova A, Guseva M, Sokolova N, Vakhlyarskaya S, Kondratenko I, Imyanitov E.
Suspitsin E, et al.
Eur J Med Genet. 2020 Jan;63(1):103630. doi: 10.1016/j.ejmg.2019.02.003. Epub 2019 Feb 14.
Eur J Med Genet. 2020.
PMID: 30772474
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Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders.
Kostik MM, Suspitsin EN, Guseva MN, Levina AS, Kazantseva AY, Sokolenko AP, Imyanitov EN.
Kostik MM, et al. Among authors: guseva mn.
Rheumatol Int. 2018 May;38(5):887-893. doi: 10.1007/s00296-018-4002-8. Epub 2018 Mar 2.
Rheumatol Int. 2018.
PMID: 29500522
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The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
Sharapova SO, Skomska-Pawliszak M, Rodina YA, Wolska-Kuśnierz B, Dabrowska-Leonik N, Mikołuć B, Pashchenko OE, Pasic S, Freiberger T, Milota T, Formánková R, Szaflarska A, Siedlar M, Avčin T, Markelj G, Ciznar P, Kalwak K, Kołtan S, Jackowska T, Drabko K, Gagro A, Pac M, Naumova E, Kandilarova S, Babol-Pokora K, Varabyou DS, Barendregt BH, Raykina EV, Varlamova TV, Pavlova AV, Grombirikova H, Debeljak M, Mersiyanova IV, Bondarenko AV, Chernyshova LI, Kostyuchenko LV, Guseva MN, Rascon J, Muleviciene A, Preiksaitiene E, Geier CB, Leiss-Piller A, Yamazaki Y, Kawai T, Walter JE, Kondratenko IV, Šedivá A, van der Burg M, Kuzmenko NB, Notarangelo LD, Bernatowska E, Aleinikova OV.
Sharapova SO, et al. Among authors: guseva mn.
Front Immunol. 2020 Jun 10;11:900. doi: 10.3389/fimmu.2020.00900. eCollection 2020.
Front Immunol. 2020.
PMID: 32655540
Free PMC article.
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Primary Immunodeficiencies in Russia: Data From the National Registry.
Mukhina AA, Kuzmenko NB, Rodina YA, Kondratenko IV, Bologov AA, Latysheva TV, Prodeus AP, Pampura AN, Balashov DN, Ilyina NI, Latysheva EA, Deordieva EA, Shvets OA, Deripapa EV, Abramova IN, Pashenko OE, Vahlyarskaya SS, Zinovyeva NV, Zimin SB, Skorobogatova EV, Machneva EB, Fomina DS, Ipatova MG, Barycheva LY, Khachirova LS, Tuzankina IA, Bolkov MA, Shakhova NV, Kamaltynova EM, Sibgatullina FI, Guseva MN, Kuznetsova RN, Milichkina AM, Totolian AA, Kalinina NM, Goltsman EA, Sulima EI, Kutlyanceva AY, Moiseeva AA, Khoreva AL, Nesterenko Z, Tymofeeva EV, Ermakova A, Proligina DD, Kalmetieva LR, Davletbaieva GA, Mirsayapova IA, Richkova OA, Kuzmicheva KP, Grakhova MA, Yudina NB, Orlova EA, Selezneva OS, Piskunova SG, Samofalova TV, Bukina TV, Pechkurova AD, Migacheva N, Zhestkov A, Barmina EV, Parfenova NA, Isakova SN, Averina EV, Sazonova IV, Starikova SY, Shilova TV, Asekretova TV, Suprun RN, Kleshchenko EI, Lebedev VV, Demikhova EV, Demikhov VG, Kalinkina VA, Gorenkova AV, Duryagina SN, Pavlova TB, Shinkareva VM, Smoleva IV, Aleksandrova TP, Bambaeva ZV, Philippova MA, Gracheva EM, Tcyvkina GI, Efremenkov AV, Mashkovskaya D, Yarovaya IV, Alekseenko VA, Fisyun IV, Molokova G…
See abstract for full author list ➔
Mukhina AA, et al. Among authors: guseva mn.
Front Immunol. 2020 Aug 6;11:1491. doi: 10.3389/fimmu.2020.01491. eCollection 2020.
Front Immunol. 2020.
PMID: 32849507
Free PMC article.
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Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study.
Tóth B, Volokha A, Mihas A, Pac M, Bernatowska E, Kondratenko I, Polyakov A, Erdos M, Pasic S, Bataneant M, Szaflarska A, Mironska K, Richter D, Stavrik K, Avcin T, Márton G, Nagy K, Dérfalvi B, Szolnoky M, Kalmár A, Belevtsev M, Guseva M, Rugina A, Kriván G, Timár L, Nyul Z, Mosdósi B, Kareva L, Peova S, Chernyshova L, Gherghina I, Serban M, Conley ME, Notarangelo LD, Smith CI, van Dongen J, van der Burg M, Maródi L.
Tóth B, et al.
Mol Immunol. 2009 Jun;46(10):2140-6. doi: 10.1016/j.molimm.2009.03.012. Epub 2009 May 5.
Mol Immunol. 2009.
PMID: 19419768
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The Konya Declaration for Patients with Primary Immunodeficiencies.
Maródi L; J Project Study Group.
Maródi L, et al.
J Clin Immunol. 2020 Jul;40(5):770-773. doi: 10.1007/s10875-020-00797-4. Epub 2020 Jun 15.
J Clin Immunol. 2020.
PMID: 32556974
No abstract available.
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Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations.
Thalhammer J, Kindle G, Nieters A, Rusch S, Seppänen MRJ, Fischer A, Grimbacher B, Edgar D, Buckland M, Mahlaoui N, Ehl S; European Society for Immunodeficiencies Registry Working Party.
Thalhammer J, et al.
J Allergy Clin Immunol. 2021 Nov;148(5):1332-1341.e5. doi: 10.1016/j.jaci.2021.04.015. Epub 2021 Apr 23.
J Allergy Clin Immunol. 2021.
PMID: 33895260
Free article.
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