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Page 1
A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region.
Vasilyeva TA, Marakhonov AV, Minzhenkova ME, Markova ZG, Petrova NV, Sukhanova NV, Koshkin PA, Pyankov DV, Kanivets IV, Korostelev SA, Krynskaya IA, Shilova NV, Kutsev SI, Kadyshev VV, Zinchenko RA. Vasilyeva TA, et al. Among authors: shilova nv. BMC Med Genomics. 2020 Sep 18;13(Suppl 8):130. doi: 10.1186/s12920-020-00790-1. BMC Med Genomics. 2020. PMID: 32948199 Free PMC article.
[Genetic and clinical characteristics of 22q11.2 deletion syndrome].
Kozlova IuO, Zabnenkova VV, Shilova NV, Min'zhenkova ME, Antonenko VG, Kotlukova NP, Simonova LV, Kazanceva IA, Levchenko EG, Bombardirova TD, Zolotukhina TV, Poliakov AV. Kozlova IuO, et al. Among authors: shilova nv. Genetika. 2014 May;50(5):602-10. Genetika. 2014. PMID: 25715476 Russian.
Induced pluripotent stem cell line, ICAGi001-A, derived from human skin fibroblasts of a patient with 2p25.3 deletion and 2p25.3-p23.3 inverted duplication.
Khabarova AA, Pristyazhnyuk IE, Nikitina TV, Gayner TA, Torkhova NB, Skryabin NA, Kashevarova AA, Babushkina NP, Markova ZG, Minzhenkova ME, Nazarenko LP, Shilova NV, Shorina AR, Lebedev IN, Serov OL. Khabarova AA, et al. Among authors: shilova nv. Stem Cell Res. 2019 Jan;34:101377. doi: 10.1016/j.scr.2018.101377. Epub 2018 Dec 18. Stem Cell Res. 2019. PMID: 30616144 Free article.
A cookbook for DNase Hi-C.
Gridina M, Mozheiko E, Valeev E, Nazarenko LP, Lopatkina ME, Markova ZG, Yablonskaya MI, Voinova VY, Shilova NV, Lebedev IN, Fishman V. Gridina M, et al. Among authors: shilova nv. Epigenetics Chromatin. 2021 Mar 20;14(1):15. doi: 10.1186/s13072-021-00389-5. Epigenetics Chromatin. 2021. PMID: 33743768 Free PMC article.
Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study.
Vasilyeva TA, Marakhonov AV, Voskresenskaya AA, Kadyshev VV, Sukhanova NV, Minzhenkova ME, Shilova NV, Latyshova AA, Ginter EK, Kutsev SI, Zinchenko RA. Vasilyeva TA, et al. Among authors: shilova nv. Genes (Basel). 2023 Nov 4;14(11):2041. doi: 10.3390/genes14112041. Genes (Basel). 2023. PMID: 38002984 Free PMC article.
Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome.
Marakhonov AV, Vasilyeva TA, Minzhenkova ME, Sukhanova NV, Sparber PA, Andreeva NA, Teleshova MV, Baybagisova FK, Shilova NV, Kutsev SI, Zinchenko RA. Marakhonov AV, et al. Among authors: shilova nv. Int J Mol Sci. 2023 Nov 29;24(23):16923. doi: 10.3390/ijms242316923. Int J Mol Sci. 2023. PMID: 38069245 Free PMC article.
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
Marakhonov AV, Efimova IY, Mukhina AA, Zinchenko RA, Balinova NV, Rodina Y, Pershin D, Ryzhkova OP, Orlova AA, Zabnenkova VV, Cherevatova TB, Beskorovainaya TS, Shchagina OA, Polyakov AV, Markova ZG, Minzhenkova ME, Shilova NV, Larin SS, Khadzhieva MB, Dudina ES, Kalinina EV, Mudaeva DA, Saydaeva DH, Matulevich SA, Belyashova EY, Yakubovskiy GI, Tebieva IS, Gabisova YV, Irinina NA, Nurgalieva LR, Saifullina EV, Belyaeva TI, Romanova OS, Voronin SV, Shcherbina A, Kutsev SI. Marakhonov AV, et al. Among authors: shilova nv. J Clin Immunol. 2024 Apr 5;44(4):93. doi: 10.1007/s10875-024-01691-z. J Clin Immunol. 2024. PMID: 38578360
Hidden X chromosomal mosaicism in a 46,XX male.
Chernykh VB, Kurilo LF, Shilova NV, Zolotukhina TV, Ryzhkova OP, Bliznetz EA, Polyakov AV. Chernykh VB, et al. Among authors: shilova nv. Sex Dev. 2009;3(4):183-7. doi: 10.1159/000228718. Epub 2009 Sep 11. Sex Dev. 2009. PMID: 19752597
65 results