Search Results - "A, PUSHKOV"

The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology by Savostyanov, K, Pushkov, A, Zhanin, I, Mazanova, N, Trufanov, S, Pakhomov, A, Alexeeva, A, Sladkov, D, Asanov, A, Fisenko, A

“…There is a vast number of screening studies described in the literature from the beginning of the twenty-first century to the present day. Many of these…”
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Genetic Landscape of Nephropathic Cystinosis in Russian Children by 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

“…Nephropathic cystinosis is a rare autosomal recessive disorder characterized by amino acid cystine accumulation and caused by biallelic mutations in the gene…”
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Signatures of Dermal Fibroblasts from RDEB Pediatric Patients by Beilin, Arkadii K, Evtushenko, Nadezhda A, Lukyanov, Daniil K, Murashkin, Nikolay N, Ambarchian, Eduard T, Pushkov, Alexander A, Savostyanov, Kirill V, Fisenko, Andrey P, Rogovaya, Olga S, Vasiliev, Andrey V, Vorotelyak, Ekaterina A, Gurskaya, Nadya G

“…The recessive form of dystrophic epidermolysis bullosa (RDEB) is a debilitating disease caused by impairments in the junctions of the dermis and the basement…”
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Delayed motor, mental and speech development and congenital brain malformations: the first description of Zhu–Tokita–Takenouchi–Kim syndrome in Russia by 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.

“…Zhu–Tokita–Takenouchi–Kim syndrome (ZTTK syndrome) is a rare autosomal dominant nuclear speckleopathy characterized by developmental delay, hypotonia,…”
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Family case of aromatic L-amino acid decarboxylase deficiency by 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.

“…Aromatic L‑amino acid decarboxylase (AADC) deficiency is rare autosomal recessive neurometabolic disorder. It caused by generalized combined deficiency of…”
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P360 The study of hemostasis system and polymorphism in the genes of coagulation in patients with mucopolysaccharidosis type ii by ND, Vashakmadze, OB, Gordeeva, VV, Botvinyeva, LS, Namazova-Baranova, AK, Gevorkyan, LM, Kuzenkova, TV, Podkletnova, KV, Savostyanov, AA, Pushkov

“…AimTo examine the status of blood coagulation factors in patients with mucopolysaccharidosis (MPS) type II. To diagnose of polymorphism in the genes of…”
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A Study of the Deformation of a Low-Density Aluminum–Lithium Alloy under Impact Compression and Localized Shear by Kuz’min, V. A., Galiev, F. F., Pushkov, V. A., Sherstobitov, E. S., Koshatova, E. V., Gerasimov, S. I., Mishustin, A. T.

“…This paper presents a study of a model for deformation of a medium-strength weldable corrosion-resistant low-density aluminum–lithium alloy under impact…”
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Molecular genetic features of the development of restrictive cardiomyopathy in Russian children by 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.

“…Aim. To identify the proportion of restrictive cardiomyopathy (RCM), as well as cardiomyopathy (CMP) with a restrictive type of hemodynamics among all cases of…”
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P123 Rare hereditary cardiomyopathy caused by novel homozygous mutation in the myl3 gene by V, LUKANINA, N, VASHAKMADZE, N, ZHURKOVA, K, SAVOSTYANOV, A, PUSHKOV, V, BARSKIY, L, BARANOVA-NAMAZOVA

“…AimsThe review of a case of rare hereditary cardiomyopathy with severe heart failure and unfavourable prognosis.patients and methods:A boy is the second child…”
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13 Final stage of hemostasis and FGB gene polymorphism in patients with cystic fibrosis by Gordeeva, O, Gorinova, Y, Simonova, O, Botvinyeva, V, Pushkov, A

“…Objective To estimate the final stage parameters of blood coagulation – fibrinogen and D-dimer in patients with cystic fibrosis (CF). Methods 30 CF patients…”
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423 Genetic predictors of a new form of bronchopulmonary dysplasia by Bondar, VA, Davydova, IV, Basargina, MA, Savostyanov, KV, Pushkov, AA, Zhanin, IS, Nikitin, AG

“…Bronchopulmonary dysplasia (BPD) is a multifactorial disease with a significant genetic component. Novel genes and associated pathways may play an important…”
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175 Very rare case of Noonan syndrome, type 2 by Gandaeva, LA, Zhurkova, NV, Basargina, EN, Pushkov, AA, Degtayreva, TD, Miroshnichenko, VP, Kondakova, OB, Savostyanov, KV

“…BackgroundNoonan syndrome, type 2 (NS2) is rare autosomal recessive disorder of RASopathies group, caused by mutations in the LZTR1 gene. NS2 characterized by…”
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94 Clinical and Genetic Spectrum of Dystroglycanopathy Due to POMGNT1 Mutations in Russian Patients by Kondakova, OB, Savostyanov, KV, Kazakova, KA, Pushkov, AA, Lyalina, AA, Davidova, YI, Kuprianova, OS, Grebenkin, DI

“…Dystroglycanopathies are the heterogeneous group of hereditary disorders, caused by the abnormal glycosylation of α-dystroglycan. The most common…”
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Clinical case of congenital cleft palate in 22q11.2 deletion syndrome by Ginter, O V, Namazova-Baranova, L S, Mospan, T Ya, Jourkova, N V, Davydova, I V, Pushkov, A A

“…The paper presents a clinical case of congenital cleft palate as a manifestation of 22q11.2 deletion syndrome accompanied by other systemic disorders having…”
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GP33 High prevalence noonan syndrome in russian children with hypertrophic cardiomyopathy, diagnosed by next generation sequencing by Zhurkova, N, Savostyanov, K, Pushkov, AA, Vashakmadze, ND, Fedorova, N, Zharova, OP, Gandaeva, LA, Sdvigova, NA, Kondakova, OB, Basargina, EN

“…BackgraundNoonan syndrome - is rare autosomal dominant disorder from RASopathies group, characterized by facial dysmorphism, short stature, hypertrophic…”
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Molecular and Genetic Basis of Hereditary Connective-Tissue Diseases Accompanied by Frequent Fractures by Yakhyaeva, G. T., Namazova-Baranova, L. S., Margieva, T. V., Zhurkova, N. V., Pushkov, A. A., Savostyanov, K. V.

“…Frequent bone fractures in infancy require the elimination of a large number (> 100) of genetic disorders. The modern diagnostic method of hereditary diseases…”
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Analysis of natural nucleosides and their derivatives by thin-layer chromatography by Antonova, S. V., Demina, N. G., Lobanov, K. V., Kuvaev, T. A., Mironov, A. S., Pushkov, A. A., Rumiantseva, N. F., Tyaglov, B. V., Shakulov, R. S., Malakhova, I. I., Krasikov, V. D.

“…Recently published data on the separation and quantification of natural nucleosides and some of their derivatives by thin-layer chromatography on silica gel…”
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Case of Enteropathic Acrodermatitis Due To Genetic Mutations Not Previously Described in Literature by Kulichenko, T. V., Lashkova, Yu. S., Pushkov, A. A., Savostianov, K. V.

“…Enteropathic acrodermatitis is a disease associated with inborn zinc metabolism disorders. It is characterized by skin lesions around natural body orifices…”
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P360The study of hemostasis system and polymorphism in the genes of coagulation in patients with mucopolysaccharidosis type ii by ND, Vashakmadze, OB, Gordeeva, VV, Botvinyeva, LS, Namazova-Baranova, AK, Gevorkyan, LM, Kuzenkova, TV, Podkletnova, KV, Savostyanov, AA, Pushkov

“…AimTo examine the status of blood coagulation factors in patients with mucopolysaccharidosis (MPS) type II. To diagnose of polymorphism in the genes of…”
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Magnetic resonance imaging for diagnosing a rare disease: incontinentia pigmenti (Bloch–Sulzberger syndrome) on the example of a clinical case by Yarmola, Igor I., Anikin, Anatoly V., Gankin, Dmitry A., Fomina, Lyubov E., Kharitonova, Natalia A., Zhanin, Ilya S., Pushkov, Aleksandr A., Basargina, Milana A., Kondakova, Olga B.

“…Incontinentia pigmenti, also known as BlochSulzberger syndrome, is a rare hereditary disease characterized by typical skin rashes and involvement of other…”
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