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Browsing by Subject medical genetics

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Showing results 1 to 20 of 153  next >
Issue DateTitleAuthor(s)
20202q14 de novo interstitial deletion in a girl with intellectual disabilities and malformationsAlvarez, Y. B.; Garcia, A. G.; Rosales, L. M.; Méndez-Rosado, L. A.
2021A bioisostere of Dimebon/Latrepirdine delays the onset and slows the progression of pathology in FUS transgenic miceChaprov, K.; Rezvykh, A.; Funikov, S.; Ivanova, T. A.; Deykin, A. V.
2020A novel heterozygous variant in exon 32 of the CHD7 gene (c.6923C>T) in a Syrian family with Kallmann syndromeAbdulsamad Wafa, Faten Moassass; Suher Almedani, Thomas Liehr; Kathleen Wilhelm
2023A replication study of genetic variants associated with high-level musical aptitudeKazantseva, A. V.; Enikeeva, R. F.; Toropova, A. V.; Zakharov, I. M.; Ismatullina, V. I.
2022ALS-linked cytoplasmic FUS assemblies are compositionally different from physiological stress granules and sequester hnRNPA3, a novel modifier of FUS toxicityHaiyan An; Gioana Litscher; Naruaki Watanabe; Wenbin Wei; Buchman, V. L.
2015Altered erythrocyte membrane protein composition mirrors pleiotropic effects of hypertension susceptibility genes and disease pathogenesisPolonikov, A. V.; Ushachev, D. V.; Ivanov, V. P.; Churnosov, M. I.; Freidin, M. B.
2022Analysis of associations of polymorphic loci of the LOXL1 gene with the development of primary open-angle glaucoma in women of the Central Chernozem region of RussiaEliseeva, N. V.; Ponomarenko, I.; Churnosov, M.
2014Analysis of Involvement of Cytokine Genetic Polymorphisms in Development of Genital EndometriosisChurnosov, M. I.; Altuchova, O. B.; Demakova, N. A.; Evdokimov, V. I.; Sorokina, I. N.
2020Aplastic anemia, clinical implications and DNA damage in workers with occupational exposure to aromatic hydrocarbons in Rio de JaneiroMelo, K.; Santiago, F.; Lucena, S. B.; Silvestre, R. T.; Bravo, M.
2023APPswe/PS1dE9/Blg Transgenic Mouse Line for Modeling Cerebral Amyloid Angiopathy Associated with Alzheimer’s DiseaseLysikova, E. A.; Kuzubova, E. V.; Radchenko, A. I.; Patrakhanov, E. A.; Chaprov, K. D.; Korokin, M. V.; Deykin, A. V.; Gudyrev, O. S.; Pokrovskii, M. V.
2023Association between HSPA8 Gene Variants and Ischemic Stroke: A Pilot Study Providing Additional Evidence for the Role of Heat Shock Proteins in Disease PathogenesisKobzeva, K. A.; Soldatova, M. O.; Soldatov, V. O.; Deykin, A. V.; Churnosov, M. I.
2023Association between mitochondrial DNA copy number and high viral load in women with high-risk human papillomavirusAbbas H.H. AlBosale, Mashkina; E. V.
2019Association of C3435T (rs1045642) polymorphism of the MDR1 gene with the increased risk of colorectal cancer in russian females from Central RussiaMoskalev, A. S.; Barysheva, E. M.; Soldatov, V. O.; Frolova, O. G.; Churnosov, M. I.
2015Association of genetic polymorphisms rs4374421, rs7759938 and rs466639 with uterine hyperplastic processesPolonikov, A.; Krivoshei, I.; Churnosov, M.
2014Association of Interleukins Genes Polymorphic Markers with Speed of CGN’s AdvanceNekipelova, E. V.; Sirotina, S. S.; Proshchaev, K. I.; Kalmykova, E. V.; Churnosov, M. I.
2020Association of L432V (rs1056836) polymorphism of the CYP1B1 gene with the increased risk of colorectal cancer in the population of Central RussiaMoskalev, A. S.
2015Association of polymorphic markers rs243865 and rs3025058 with the development of arterial hypertensionPolonikov, A.; Moskalenko, M.; Churnosov, M.; Zhernakova, N.; Milanova, S.
2022Association of polymorphism rs10841855 in the glycogen synthase 2 gene with hypercholesterolemia and type 2 diabetes mellitusAzarova, I. E.; Korvyakova, Y. E.; Glotov, A. O.; Ivakin, V. E.; Polonikov, A. V.
2021Association of the functionally significant polymorphisms of the MMP9 gene with H. pylori-positive gastric ulcer in the Caucasian population of Central RussiaDvornyk, V.; Ponomarenko, I.; Minyaylo, O.; Reshetnikov, E.; Churnosov, M.
2015Association study of genetic polymorphisms of vasoactive hormones with the risk of preeclampsiaPolonikov, A.; Elykova, A.; Sorokina, I.; Efremova, O.; Churnosov, M.
Showing results 1 to 20 of 153  next >