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По вашему запросу найдено документов: 23

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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

GENOME-WIDE ASSOCIATION STUDY IDENTIFIES 32 NOVEL BREAST CANCER SUSCEPTIBILITY LOCI FROM OVERALL AND SUBTYPE-SPECIFIC ANALYSES

cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer

THE FANCM:P.ARG658* TRUNCATING VARIANT IS ASSOCIATED WITH RISK OF TRIPLE-NEGATIVE BREAST CANCER

Bogliolo, M., Catucci, I., Caleca, L., Lasheras, S.V., Pujol, R., Kiiski, J.I., Muranen, T.A., Barnes, D.R., Dennis, J., Michailidou, K., Bolla, M.K., Leslie, G., Figlioli, G. (2019)

variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk

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

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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