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MUTATIONAL LANDSCAPE OF PROSTATE TUMORS REVEALED BY WHOLE-EXOME SEQUENCING
Gilyazova, I.R., Yankina, M.A., Kunsbaeva, G.B., Klimentova, E.A., Izmaylov, A.A., V.N. Pavlov, Khusnutdinova, E.K. (2016)
patient. Bioinformatics analysis was conducted and the most significant mutations in prostate cancer
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
TWO NOVEL MUTATIONS IN GENE SPG4 IN PATIENTS WITH AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA
Akhmetgaleyevaa, A.F., Khidiyatovaa, I.M., Saifullinac, E.V., Idrisovad, R.F., Magzhanov, R.V., Khusnutdinovaa, E.K. (2016)
in Europeans is HSP associated with mutations in the spastin gene (SPG4). Analysis of the gene SPG4 was carried
LYNCH SYNDROME GERMLINE MUTATIONS IN BREAST CANCER: NEXT GENERATION SEQUENCING CASE-CONTROL STUDY OF 1,263 PARTICIPANTS
NIKITIN, A.G., CHUDAKOVA, D.A., ENIKEEV, R.F., GORDIEV, M.G., SAKAEVA, D., DRUZHKOV, M., SHIGAPOVA, L.H., BROVKINA, O.I., SHAGIMARDANOVA, E.I., GUSEV, O.A. (2020)
Genome instability—the increased tendency of acquiring mutations in the genome and ability of a
Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)
Nadyrshina, D., Zaripova, A., Tyurin, A., Minniakhmetov, I., Zakharova, E., Khusainova, R. (2022)
in patients from Bashkortostan Republic, Russia. In total, 16 mutations in COL1A1, 11 mutations in COL1A2
Whole Exome Sequencing Study Suggests an Impact of FANCA, CDH1 and VEGFA Genes on Diffuse Gastric Cancer Development
Nurgalieva, A., Galliamova, L., Ekomasova, N., Yankina, M., Sakaeva, D., Valiev, R., Prokofyeva, D., Dzhaubermezov, M., Fedorova, Y., Khusnutdinov, S., Khusnutdinova, E. (2023)
germline mutations
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Coignard, J., Lush, M., Beesley, J., O’Mara, T.A., Dennis, J, Tyrer, J.P., Barnes, D.R., McGuffog, L., Leslie, G., Bolla, M.K., Adank, M.A., Kiiski, J.I., Nevanlinna, H., team of authors (2021)
Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial
МАЖОРНАЯ МУТАЦИЯ В ГЕНЕ SPAST У ПАЦИЕНТОВ С АУТОСОМНО-ДОМИНАНТНОЙ СПАСТИЧЕСКОЙ ПАРАПЛЕГИЕЙ ИЗ РЕСПУБЛИКИ БАШКОРТОСТАН
MAJOR MUTATION IN THE SPAST GENE IN PATIENTS WITH AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA FROM THE REPUBLIC OF BASHKORTOSTAN
KHIDIYATOVA, I.M., AKHMETGALEYEVA, A.F., YANKINA, M.A., KHUSNUTDINOVA, E.K., SHAVALIEVA, V.V., SAIFULLINA, E.V., MAGZHANOV, R.V., IDRISOVA, R.F., ХИДИЯТОВА И.М., АХМЕТГАЛЕЕВА А.Ф., САЙФУЛЛИНА Е.В., ИДРИСОВА Р.Ф., ЯНКИНА М.А., ШАВАЛИЕВА В.В., МАГЖАНОВ Р.В., ХУСНУТДИНОВА Э.К. (2019)
lesion of the pyramidal tract. To date, mutations responsible for the disease have been identified
LONG-QT SYNDROME-ASSOCIATED CAVEOLIN-3 MUTATIONS DIFFERENTIALLY REGULATE THE HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE GATED CHANNEL 4
Motloch, L.J., Larbig, R., Darabi, T., Reda, S., Motloch, K.A., Wernly, B., Lichtenauer, M., Gebing, T., Schwaiger, A., Zagidullin, N., Wolny, M., Hoppe, U.C. (2017)
Background Caveolin-3 (cav-3) mutations are linked to the long-QT syndrome (LQTS) causing distinct
MOLECULAR AND BIOCHEMICAL STUDY OF GLUTARIC ACIDURIA TYPE 1 IN 49 RUSSIAN FAMILIES: NINE NOVEL MUTATIONS IN THE GCDH GENE
KURKINA, M.V., MIHAYLOVA, S.V., BAIDAKOVA, G.V., SAIFULLINA, E.V., KOROSTELEV, S.A., PYANKOV, D.V., KANIVETS, I.V., YUNIN, M.A., PECHATNIKOVA, N.L., ZAKHAROVA, E.YU (2020)
) (ICD-10 code: E72.3; MIM 231670) is an autosomal recessive disease caused by mutations in the gene

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