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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
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)
somatic mutations
ПОИСК ИЗМЕНЕНИЙ НУКЛЕОТИДНОЙ ПОСЛЕДОВАТЕЛЬНОСТИ ГЕНА РЕМОДЕЛИРОВАНИЯ ХРОМАТИНА PBRM1 У ПАЦИЕНТОВ СО СВЕТЛОКЛЕТОЧНЫМ РАКОМ ПОЧКИ
IDENTIFICATION OF ALTERATIONS IN THE NUCLEOTIDE SEQUENCE OF THE CHROMATIN REMODELING GENE PBRM1 IN CLEAR CELL RENAL CELL CARCINOMA PATIENTS
Klimentova E.A., Gilyazova I.R., Izmailov A.A., Sultanov I.M., Bermisheva M.A., V.N. Pavlov, Khusnutdinova E.K., КЛИМЕНТОВА, Е.А., ГИЛЯЗОВА, И.Р., ИЗМАЙЛОВ, А.А., СУЛТАНОВ, И.М., БЕРМИШЕВА, М.А., В.Н. Павлов, ХУСНУТДИНОВА, Э.К. (2018)
and direct sequencing. In the PBRM1 gene, two somatic mutations were found (c.233G >A (p.D45N) in exon 2, c
Primary open-angle glaucoma combined with concomitant somatic pathology
Zagidullina, AS, Aznabaev, BM (2021)
The goal of the study was to assess the role of concomitant somatic pathology and calculate
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
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

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