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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
Bioinformatics Analysis Screening and Identification of Key Biomarkers and Drug Targets in Human Glioblastoma
Wang, Chunlei, Beylerli, Ozal, Gu, Yan, Xu, Shancai, Ji, Zhiyong, Ilyasova, Tatiana, Gareev, Ilgiz, Chekhonin, Vladimir (2024)
led to a significant advancement in gene expression analysis platforms. Microarray analysis has gained
GENOME-WIDE ASSOCIATION AND TRANSCRIPTOME STUDIES IDENTIFY TARGET GENES AND RISK LOCI FOR BREAST CANCER
Ferreira, M.A., Gamazon, E.R., Al-Ejeh, F., Aittomäki, K., Andrulis, I.L., Anton-Culver, H., Arason, A., Arndt, V., Aronson, K.J., Arun, B.K., Asseryanis, E., Azzollini, J., Balmaña, J., Barnes, D.R., Barrowdale, D., Beckmann, M.W., Behrens, S., Benitez, J., Bermisheva, M., Białkowska, K., Blomqvist, C., Bogdanova, N.V., Bojesen, S.E., Bolla, M.K., Borg, A., Brauch, H., Brenner, H., Broeks, A., Burwinkel, B., Caldés, T., Caligo, M.A., Campa, D., Campbell, I., Canzian, F., Carter, J., Carter, B.D., Castelao, J.E., Chang-Claude, J., Chanock, S.J., Christiansen, H., Chung, W.K., Claes, K.B.M., Clarke, C.L., Adlard, J., Ahmed, M., Barwell, J., Henderson, A., Hodgson, S., Izatt, L., Kennedy, M.J., Lalloo, F., Miller, C., Morrison, P.J., Ong, K.-R., Perkins, J., Porteous, M.E., Rogers, M.T., Side, L.E., Snape, K., Walker, L., Harrington, P.A., Arnold, N., Auber, B., Bogdanova-Markov, N., Borde, J., Caliebe, A., Ditsch, N., Dworniczak, B., Engert, S., Faust, U. (2019)
QTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast
ATYPICAL CLINICAL MANIFESTATIONS AND GENOTYPE-PHENOTYPE CORRELATIONS OF NEUROFIBROMATOSIS TYPE 1
Мустафин, Р.Н., Mustafin, R.N. (2022)
by specific mutations in the NF1 gene (causing substitutions of amino acids in neurofibromin: p.Arg1038, p
АНАЛИЗ АССОЦИАЦИЙ ПОЛИМОРФНЫХ ВАРИАНТОВ ГЕНА ГЛЮКОКОРТИКОИДНОГО РЕЦЕПТОРА (NR3C1) И ГЕНА КОРТИКОТРОПИН-РИЛИЗИНГ-ГОРМОНА (CRHR1) НА РАЗВИТИЕ И ТЕЧЕНИЕ БРОНХИАЛЬНОЙ АСТМЫ
ANALYSIS OF ASSOCIATIONS OF POLYMORPHISMS OF THE GLUCOCORTICOID RECEPTOR GENE (NR3C1) AND THE CORTICOTROPIN RELEASING HORMONE GENE (CRHR1) ON THE DEVELOPMENT AND COURSE OF BRONCHIAL ASTHMA
Савельева, О.Н., Карунас, А.С., Федорова, Ю.Ю., Мухтарова, Л.А., Загидуллин, Ш.З., Хуснутдинова, Э.К., Savelieva, O.N., Karunas, A.S., Fedorova, Yu.Yu., Mukhtarova, L.A, Zagidullin, Sh. Z., Khusnutdinova, E.K. (2020)
ANALYSIS OF ASSOCIATIONS OF POLYMORPHISMS OF THE GLUCOCORTICOID RECEPTOR GENE (NR3C1
ИССЛЕДОВАНИЕ ПОЛИМОРФНЫХ ВАРИАНТОВ И УРОВНЯ МЕТИЛИРОВАНИЯ ГЕНОВ, УЧАСТВУЮЩИХ В МЕТАБОЛИЗМЕ ГЛЮКОКОРТИКОСТЕРОИДОВ, У БОЛЬНЫХ БРОНХИАЛЬНОЙ АСТМОЙ И ЗДОРОВЫХ ИНДИВИДОВ
STUDY OF POLYMORPHISMS AND THE METHYLATION STATUS OF GENES INVOLVED IN GLUCOCORTICOSTEROID METABOLISM IN PATIENTS WITH ASTHMA AND HEALTHY INDIVIDUALS
ФЕДОРОВА, Ю.Ю., КАРУНАС, А.С., САВЕЛЬЕВА, О.Н., ГИМАЛОВА, Г.Ф., МУРЗИНА, Р.Р., ГАТИЯТУЛЛИН, Р.Ф., ЭТКИНА, Э.И., ХУСНУТДИНОВА, Э.К., FEDOROVA, YU.YU., KARUNAS, A.S., SAVELIEVA, O.N., GIMALOVA, G.F., MURZINA, R.R., GATIYATULLIN, R.F., ETKINA, E.I., KHUSNUTDINOVA, E.K. (2020)
STUDY OF POLYMORPHISMS AND THE METHYLATION STATUS OF GENES INVOLVED IN GLUCOCORTICOSTEROID
ОСОБЕННОСТИ ПОЛИМОРФИЗМА ГЕНОВ РЕНИН-АНГИОТЕНЗИНОВОЙ СИСТЕМЫ У НЕДОНОШЕННЫХ НОВОРОЖДЕННЫХ
FEATURES OF GENE POLYMORPHISM OF THE RENIN-ANGIOTENSIN SYSTEM IN PREMATURE NEWBORNS
Миронов, П.И., Амирова, В.Р., Грешилов, А.А., Потехина, Т.А., Рахимова, Р.Ф., Mironov, P.I., Amirova, V.R., Greshilov, A.A., Potekhina, T.A., Rahimova, P.F. (2022)
FEATURES OF GENE POLYMORPHISM OF THE RENIN-ANGIOTENSIN SYSTEM IN PREMATURE NEWBORNS
The role of pathogenic germline mutations of BRCA1/2, NBS1, and CHEK2 genes in gastric cancer development within the Volga-Ural region of Russia
Nurgalieva, A.Kh., Petrova, Sabina G., Gallyamova, Lilia F., Ekomasova, Natalia V., Sakaeva, Dina D., Fedorova, Yulia Yu, Dzhaubermezov, Murat A., Abdeev, Rustem R., Rakhimov, Radmir R., Khusnutdinova, Elza K., Prokofyeva, Darya S. (2025)
.115+1G>A) and NBS1 (c.657_661delGTTTT) genes in patients with GC and healthy donors from the Volga
Evaluation of VDR and PAI allelic genes in patients with avascular necrosis of the femoral head
Volkov, E.E., Goloshchapov, A.P., Mustafin, R.N. (2021)
11568820 and rs1544410 of the VDR gene, as well as rs1799889 of the PAI‑1 gene in AVNFH patients
Association of inflammation gene polymorphism with increased risk of metabolic syndrome in tatar ethnic group
Kochetova, Olga V., Avzaletdinova, Diana S., Korytina, Gulnaz F. (2022)
of polymorphic variants of inflammation genes with MetS and serum levels of high-sensitivity C-reactive protein

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