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RECONSTRUCTION OF SNP HAPLOTYPES WITH MUTATION C.-23+1G>A IN HUMAN GENE GJB2 (CHROMOSOME 13) IN SOME POPULATIONS OF EURASIA
Solovyev, A.V., Barashkov, N.A., Bady-Khoo, M.S., Zytsar, M.V., Posukh, O.L., Romanov, G.P., Rafailov, A.M., Sazonov, N.N., Alexeev, A.N., Dzhemileva, L.U., Khusnutdinova, E.K., Fedorova, S.A. (2017)
The c.-23+1G>A splice site mutation is one of the most frequent mutations of gene GJB2 (Cx26, 13q11
A NOVEL PATHOGENIC VARIANT C.975G>A (P.TRP325*) IN THE POU3F4 GENE IN YAKUT FAMILY (EASTERN SIBERIA, RUSSIA) WITH THE X-LINKED DEAFNESS-2 (DFNX2)
BARASHKOV, N.A., KLAROV, L.A., TERYUTIN, F.M., SOLOVYEV, A.V., PSHENNIKOVA, V.G., ROMANOV, G.P., TOMSKY, M.I., FEDOROVA, S.A., KONNIKOVA, E.E., TOBOKHOV, A.V., MOROZOV, I.V., BONDAR, A.A., POSUKH, O.L., DZHEMILEVA, L.U., KHUSNUTDINOVA, E.K. (2018)
Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found
OPENING UP NEW HORIZONS FOR PSYCHIATRIC GENETICS IN THE RUSSIAN FEDERATION: MOVING TOWARD A NATIONAL CONSORTIUM
Fedorenko, O.Y., Golimbet, V.E., Ivanova, S.А., Levchenko, А., Gainetdinov, R.R., Semke, A.V., Simutkin, G.G., Gareeva, А.E., Glotov, А.S., Gryaznova, A., Iourov, I.Y., Krupitsky, E.M., Lebedev, I.N., Mazo, G.E., Kaleda, V.G., Abramova, L.I., Oleichik, I.V., Nasykhova, Y.A., Nasyrova, R.F., Nikolishin, A.E., Kasyanov, E.D., Rukavishnikov, G.V., Timerbulatov, I.F., Brodyansky, V.M., Vorsanova, S.G., Yurov, Y.B., Zhilyaeva, T.V., Sergeeva, A.V., Blokhina, E.A., Zvartau, E.E., Blagonravova, A.S., Aftanas, L.I., Bokhan, N.А., Kekelidze, Z.I., Klimenko, T.V., Anokhina, I.P., Khusnutdinova, E.K., Klyushnik, T.P., Neznanov, N.G., Stepanov, V.A., Schulze, T.G., Kibitov, А.О. (2019)
HEARING LOSS OF VOLGA-URAL REGION IN RUSSIA
Khusnutdinova, E.K., Dzhemileva, L.U., Lobov, S.L., Kuznetzov, D.U., Nazirova, A.G., Nurgalina, E.M., Barashkov, N.A., Fedorova, S.A. (2017)
carrier frequency of c.35delG, c.167delT and c.235delC mutations of the GJB2 gene in 17 populations
ANTISOCIAL BEHAVIOR: NATURE VS. NURTURE
Kazantseva, A.V., Yakovleva, D.V., Davydova, Yu. D., Kosareva, A.R., Valinurov, R.G., Khusnutdinova, E.K. (2023)
2279829, REV3L rs458806, XKR6 rs4240671, SORCS3 rs11596214, and BDNF rs6265. Subsequent genotyping
COMPARISON OF PREDICTIVE IN SILICO TOOLS ON MISSENSE VARIANTS IN GJB2, GJB6, AND GJB3 GENES ASSOCIATED WITH AUTOSOMAL RECESSIVE DEAFNESS 1A (DFNB1A)
PSHENNIKOVA, V.G., BARASHKOV, N.A., ROMANOV, G.P., TERYUTIN, F.M., SOLOV'EV, A.V., GOTOVTSEV, N.N., NIKANOROVA, A.A., FEDOROVA, S.A., NAKHODKIN, S.S., SAZONOV, N.N., MOROZOV, I.V., BONDAR, A.A., POSUKH, O.L, DZHEMILEVA, L.U., KHUSNUTDINOVA, E.K. (2019)
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene
Barashkov, N.A., Konovalov, F.A., Borisova, T.V., Teryutin, F.M., Solovyev, A.V., Pshennikova, V.G., Sapojnikova, N.V., Vychuzhina, L.S., Romanov, G.P., Gotovtsev, N.N., Morozov, I.V., Bondar, A.A., Platonov, F.A., Burtseva, T.E., Khusnutdinova, E.K., Posukh, O.L., Fedorova, S.A. (2021)
OPINIONS OF HEARING PARENTS ABOUT THE CAUSES OF HEARING IMPAIRMENT OF THEIR CHILDREN WITH BIALLELIC GJB2 MUTATIONS
Solovyev, A.V., Dzhemileva, L.U., Posukh, O.L., Barashkov, N.A., Bady-Khoo, M.S., Lobov, S.L., Popova, N.Y., Romanov, G.P., Sazonov, N.N., Bondar, A.A., Morozov, I.V., Tomsky, M.I., Fedorova, S.A., Khusnutdinova, E.K. (2017)
GENETIC ASPECTS OF KERATOCONUS DEVELOPMENT
Bikbova, M.M., Usubova, E.L., Oganisyana, K.Kh., Lobov, S.L., Khasanovad, R.R., Dzhemilevab, L.U., Khusnutdinova, E.K. (2017)
ПОИСК АССОЦИАЦИЙ ВАРИАНТОВ C.1492 G>A/MRE11 И C.1480G>A/MRE11 С РИСКОМ РАЗВИТИЯ РАКА ЯИЧНИКОВ У ЖЕНЩИН ИЗ РЕСПУБЛИКИ БАШКОРТОСТАН
SEARCH FOR ASSOCIATIONS OF VARIANTS C.1492 G> A / MRE11 AND C.1480G> A / MRE11 WITH THE RISK OF DEVELOPING OVARIAN CANCER IN WOMEN FROM THE REPUBLIC OF BASHKORTOSTAN
БОГДАНОВА, Н.В., ВАЛОВА, Я.В., ПРОКОФЬЕВА, Д.С., МИНГАЖЕВА, Э.Т., ХУСНУТДИНОВА, Э.К., BOGDANOVA, N.V., VALOVA, Y.V., PROKOFYEVA, D.S., MINGAZHEVA, E.T., KHUSNUTDINOVA, E.K. (2021)
Цель работы заключалась в проведении ассоциативного анализа герминальных вариантов c.1480G>A c.1492

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