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Page 1
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: mersiyanova iv. Front Immunol. 2020 Jun 10;11:900. doi: 10.3389/fimmu.2020.00900. eCollection 2020. Front Immunol. 2020. PMID: 32655540 Free PMC article.
Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.
Chen L, Mamutova A, Kozlova A, Latysheva E, Evgeny F, Latysheva T, Savostyanov K, Pushkov A, Zhanin I, Raykina E, Kurnikova M, Mersiyanova I, Platt CD, Jee H, Brodeur K, Du Y, Liu M, Weiss A, Schulert GS, Rodriguez-Smith J, Hershfield MS, Aksentijevich I, Zhou Q, Nigrovic PA, Shcherbina A, Alexeeva E, Lee PY. Chen L, et al. J Allergy Clin Immunol. 2023 Sep;152(3):771-782. doi: 10.1016/j.jaci.2023.04.014. Epub 2023 May 5. J Allergy Clin Immunol. 2023. PMID: 37150360
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
Le Voyer T, Sakata S, Tsumura M, Khan T, Esteve-Sole A, Al-Saud BK, Gungor HE, Taur P, Jeanne-Julien V, Christiansen M, Köhler LM, ElGhazali GE, Rosain J, Nishimura S, Sakura F, Bouaziz M, Oleaga-Quintas C, Nieto-Patlán A, Deyà-Martinez À, Altuner Torun Y, Neehus AL, Roynard M, Bozdemir SE, Al Kaabi N, Al Hassani M, Mersiyanova I, Rozenberg F, Speckmann C, Hainmann I, Hauck F, Alzahrani MH, Alhajjar SH, Al-Muhsen S, Cole T, Fuleihan R, Arkwright PD, Badolato R, Alsina L, Abel L, Desai M, Al-Mousa H, Shcherbina A, Marr N, Boisson-Dupuis S, Casanova JL, Okada S, Bustamante J. Le Voyer T, et al. J Immunol. 2021 Jul 1;207(1):133-152. doi: 10.4049/jimmunol.2001451. Epub 2021 Jun 28. J Immunol. 2021. PMID: 34183371 Free PMC article.
Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome.
Polokhov D, Fedorova D, Ignatova A, Ponomarenko E, Rashevskaya E, Martyanov A, Podoplelova N, Aleksenko M, Mersiyanova I, Seregina E, Poletaev A, Truchina E, Raykina E, Plyasunova S, Novichkova G, Zharkov P, Panteleev M. Polokhov D, et al. Orphanet J Rare Dis. 2023 Apr 11;18(1):74. doi: 10.1186/s13023-023-02675-9. Orphanet J Rare Dis. 2023. PMID: 37041648 Free PMC article.
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.
Smetanina NS, Mersiyanova IV, Kurnikova MA, Ovsyannikova GS, Hachatryan LA, Bobrynina VO, Maschan MA, Novichkova GA, Lipton JM, Maschan AA. Smetanina NS, et al. Among authors: mersiyanova iv. Pediatr Blood Cancer. 2015 Sep;62(9):1597-600. doi: 10.1002/pbc.25534. Epub 2015 May 6. Pediatr Blood Cancer. 2015. PMID: 25946618 Free PMC article.
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battaloglu E, Polyakov AV, Timmerman V, Schröder JM, Vance JM. Züchner S, et al. Among authors: mersiyanova iv. Nat Genet. 2004 May;36(5):449-51. doi: 10.1038/ng1341. Epub 2004 Apr 4. Nat Genet. 2004. PMID: 15064763 No abstract available.
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