Genetic Landscape of Nephropathic Cystinosis in Russian Children
Savostyanov, K V, Pushkov, A A, Shchagina, O A, Maltseva, V V, Suleymanov, E A, Zhanin, I S, Mazanova, N N, Fisenko, A P, Mishakova, P S, Polyakov, A V, Balanovska, E V, Zinchenko, R A, Tsygin, A N
Published in Frontiers in genetics (28.04.2022)
Published in Frontiers in genetics (28.04.2022)
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Journal Article
Polymorphic Gene Markers of Lipid Metabolism Are Associated with Diabetic Nephropathy in Patients with Type 1 Diabetes Mellitus
Yakunina, N. Yu, Shestakova, M. V., Voron’ko, O. E., Vikulova, O. K., Savost’yanov, K. V., Chugunova, L. A., Shamkhalova, M. Sh, Dedov, I. I., Nosikov, V. V.
Published in Russian journal of genetics (01.07.2005)
Published in Russian journal of genetics (01.07.2005)
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Journal Article
The C1167T polymorphism of the catalase gene and polymorphic markers D11S907 and D11S2008 located in its vicinity are associated with diabetes mellitus type 2
Chistyakov, D. A., Savost’yanov, K. V., Turakulov, R. I., Scherbacheva, L. N., Mamaeva, G. G., Balabolkin, M. I., Nosikov, V. V.
Published in Molecular biology (New York) (01.09.2000)
Published in Molecular biology (New York) (01.09.2000)
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Journal Article
Association of Polymorphic Markers of the Antioxidant Enzyme Genes with Diabetic Polyneuropathy in Type 1 Diabetes Mellitus
Zotova, E V, Savost'yanov, K V, Chistyakov, DA, Bursa, T R, Galeev, I V, Strokov, IA, Nosikov, V V
Published in Molecular biology (New York) (01.03.2004)
Published in Molecular biology (New York) (01.03.2004)
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Journal Article
CASE OF NON-SEVERE CONGENITAL NEPHROTIC SYNDROME
Kostushina, I. S., Margieva, T. V., Gusarova, T. N., Yakhyaeva, G. T., Namazova-Baranova, L. S., Pushkov, A. A., Savost'yanov, K. V.
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (01.11.2014)
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (01.11.2014)
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Journal Article
Identification of the Locus Associated with Diabetic Nephropathy in Type 1 Diabetes Mellitus
Savost'yanov, K V, Chistyakov, D A, Shestakova, M V, Voron'ko, O E, Chugunova, L A, Shamkhalova, M Sh, Dedov, I I, Nosikov, V V
Published in Molecular biology (New York) (01.11.2002)
Published in Molecular biology (New York) (01.11.2002)
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Journal Article
Delayed motor, mental and speech development and congenital brain malformations: the first description of Zhu–Tokita–Takenouchi–Kim syndrome in Russia
Kondakova, O. B., Gudkova, A. P., Demyanov, S. V., Davydova, Yu. I., Lyalina, A. A., Grebenkin, D. I., Bakovich, E. A., Kanivets, I. V., Demyanov, D. S., Zhanin, I. S., Pushkov, A. A., Savostyanov, K. V.
Published in Nervno-myshechnye bolezni (24.05.2024)
Published in Nervno-myshechnye bolezni (24.05.2024)
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Journal Article
Prospects of etiopathogenetic treatment of Huntington’s disease
Kondakova, O. B., Demyanov, S. V., Krasivskaya, A. V., Demyanov, G. V., Grebenkin, D. I., Davydova, Yu. I., Lyalina, A. A., Radkevich, E. R., Savostyanov, K. V.
Published in Nervno-myshechnye bolezni (25.03.2023)
Published in Nervno-myshechnye bolezni (25.03.2023)
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Journal Article
Family case of aromatic L-amino acid decarboxylase deficiency
Kondakova, O. B., Kazakova, K. A., Lyalina, A. A., Lapshina, N. V., Pushkov, A. A., Mazanova, N. N., Davydova, Yu. I., Grebenkin, D. I., Kanivets, I. V., Savostyanov, K. V.
Published in Nervno-myshechnye bolezni (13.12.2022)
Published in Nervno-myshechnye bolezni (13.12.2022)
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P360 The study of hemostasis system and polymorphism in the genes of coagulation in patients with mucopolysaccharidosis type ii
ND, Vashakmadze, OB, Gordeeva, VV, Botvinyeva, LS, Namazova-Baranova, AK, Gevorkyan, LM, Kuzenkova, TV, Podkletnova, KV, Savostyanov, AA, Pushkov
Published in Archives of disease in childhood (01.06.2017)
Published in Archives of disease in childhood (01.06.2017)
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Journal Article
94 Clinical and Genetic Spectrum of Dystroglycanopathy Due to POMGNT1 Mutations in Russian Patients
Kondakova, OB, Savostyanov, KV, Kazakova, KA, Pushkov, AA, Lyalina, AA, Davidova, YI, Kuprianova, OS, Grebenkin, DI
Published in Archives of disease in childhood (11.10.2021)
Published in Archives of disease in childhood (11.10.2021)
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Journal Article
175 Very rare case of Noonan syndrome, type 2
Gandaeva, LA, Zhurkova, NV, Basargina, EN, Pushkov, AA, Degtayreva, TD, Miroshnichenko, VP, Kondakova, OB, Savostyanov, KV
Published in Archives of disease in childhood (11.10.2021)
Published in Archives of disease in childhood (11.10.2021)
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Journal Article
423 Genetic predictors of a new form of bronchopulmonary dysplasia
Bondar, VA, Davydova, IV, Basargina, MA, Savostyanov, KV, Pushkov, AA, Zhanin, IS, Nikitin, AG
Published in Archives of disease in childhood (11.10.2021)
Published in Archives of disease in childhood (11.10.2021)
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Journal Article
Molecular genetic features of the development of restrictive cardiomyopathy in Russian children
Savostyanov, K. V., Basargina, E. N., Ryabova, E. E., Pushkov, A. A., Zhanin, I. S., Basargina, E. Yu, Alekseeva, A. Yu, Muraveva, L. V., Gandaeva, L. A., Fisenko, A. P.
Published in Rossiĭskiĭ kardiologicheskiĭ zhurnal (22.11.2021)
Published in Rossiĭskiĭ kardiologicheskiĭ zhurnal (22.11.2021)
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Journal Article
Laboratory studies and Pompe disease: from suspicion to therapy monitoring
Savost’yanov, K. V., Nikitin, S. S., Karpacheva, K. E.
Published in Nervno-myshechnye bolezni (29.03.2016)
Published in Nervno-myshechnye bolezni (29.03.2016)
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Journal Article
P79 Clinical case of rare chromosome pathology: combined deletion 7p21.1-p15.2 and deletion 22q12.1 in patient with mental retardation
Namazova-Baranova, LS, Savostyanov, KV, Vashkamadze, ND, Zhurkova, NV, Pushkov, AA, Polunina, TA
Published in Archives of disease in childhood (01.06.2017)
Published in Archives of disease in childhood (01.06.2017)
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Journal Article
P77 1P36 deletion syndrome in children with cardiomyopathy: two clinical cases
Zhurkova, NV, Pushkov, AA, Savostyanov, KV, Basargina, EN, Pakhomov, AV, Ermolenko, VS, Derevianina, YV
Published in Archives of disease in childhood (01.06.2017)
Published in Archives of disease in childhood (01.06.2017)
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