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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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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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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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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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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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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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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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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Molecular and Genetic Basis of Hereditary Connective-Tissue Diseases Accompanied by Frequent Fractures
Yakhyaeva, G. T., Namazova-Baranova, L. S., Margieva, T. V., Zhurkova, N. V., Pushkov, A. A., Savostyanov, K. V.
Published in Voprosy sovremennoĭ pediatrii (01.06.2016)
Published in Voprosy sovremennoĭ pediatrii (01.06.2016)
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Clinical Cases of Leukoencephalopathy with Predominant Lesion of the Brain Stem, Spinal Cord and High Blood Lactate in the MR Spectroscopy (Mitochondrial Aspartyl-tRNASynthetase Deficiency)
Kolesnikova, Ye. P., Kuzenkova, L. M., Savostyanov, K. V., Globa, O. V., Podkletnova, T. V.
Published in Voprosy sovremennoĭ pediatrii (31.01.2016)
Published in Voprosy sovremennoĭ pediatrii (31.01.2016)
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Treating TRAPS Syndrome with a Previously Undescribed TNF α Gene Receptor Mutation Successfully with Canakinumab
T. V. Sleptsova, E. I. Alexeeva, K. V. Savostyanov, A. A. Pushkov, T. M. Bzarova, K. B. Isaeva, R. V. Denisova
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (15.11.2016)
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (15.11.2016)
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Demographic, Clinical and Genetic Characteristics of Child Gaucher Disease Patients in Russia: Pediatric Register Data
G. B. Movsisyan, O. S. Gundobina, L. S. Namazova-Baranova, K. V. Savostyanov, A. N. Pushkov, V. V. Chernikov, N. N. Mazanova, A. M. Romanyuk, V. I. Smirnov
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (15.11.2016)
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (15.11.2016)
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Managing Children with Gaucher Disease: Modern Clinical Recommendations
A. A. Baranov, L. S. Namazova-Baranova, O. S. Gundobina, E. A. Lukina, A. K. Gevorkyan, K. V. Savostyanov, A. A. Pushkov, E. A. Vishnyova, G. B. Movsisyan
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (01.08.2016)
Published in Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii (01.08.2016)
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Fabry Disease: Symptoms in Children and Teenagers
Kuzenkova, L. М., Namazova-Baranova, L. S., Podkletnova, Т. V., Gevorkyan, А. K., Vashakmadze, N. D., Savostyanov, K. V., Studenikin, V. М., Pushkov, S. А.
Published in Voprosy sovremennoĭ pediatrii (25.08.2015)
Published in Voprosy sovremennoĭ pediatrii (25.08.2015)
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Clinical and Molecular Genetic Features of Autoinflammatory Syndromes in Children
Alexeeva, Е. I., Savostyanov, K. V., Sleptsova, Т. V., Pushkov, А. А., Valieva, S. I., Bzarova, Т. М., Isaeva, K. B., Chistyakova, Е. G., Chomakhidze, А. М., Denisova, R. V., Nikitin, А. G., Pakhomov, А. V.
Published in Voprosy sovremennoĭ pediatrii (25.08.2015)
Published in Voprosy sovremennoĭ pediatrii (25.08.2015)
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Polymorphic markers Val762Ala and Leu54Phe of the ADPRT1 gene associated with chronic glomerulonephritis in Russian patients from Moscow
Shestakov, A. E., Kamyshova, E. S., Petrosyan, E. K., Kutyrina, I. M., Savostyanov, K. V., Nosikov, V. V.
Published in Russian journal of genetics (01.02.2007)
Published in Russian journal of genetics (01.02.2007)
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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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