Search Results - "Kozhanova, T V"

Opportunities and achievements of using massive parallel sequencing in the diagnosis of neurodevelopmental diseases by Kozhanova, T. V.

“…The contribution of genetic factors to development of neurological diseases has long been recognized, and the majority of the advances coupled to using…”
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A rare genetic Schuurs-Hoeijmakers syndrome (PACS1 syndrome) by Kozhanova, T. V., Zhilina, S. S., Meshcheryakova, T. I., Mikhailova, A. D., Krapivkin, A. I., Zavadenko, N. N.

“…PACS1 neurodevelopmental disorder (Schuurs-Hoeijmakers syndrome; MIM #615009) is a rare autosomal dominant genetic syndrome characterized by developmental…”
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SEMA6B-related progressive myoclonus epilepsy in a patient with Klinefelter syndrome by Kozhanova, T. V., Zhilina, S. S., Meshcheryakova, T. I., Sushko, L. M., Osipova, K. V., Mazur, A. M., Fomenko, S. S., Krapivkin, A. I., Zavadenko, N. N.

“…In most cases, variants of nucleotide sequence in the SEMA6B gene account for developing the phenotype of progressive myoclonus epilepsy and, to a lesser…”
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DEPDC5-related familial focal epilepsy by Kozhanova, T. V., Zhilina, S. S., Sushko, L. M., Lukyanova, E. G., Osipova, K. V., Krapivkin, A. I., Zavadenko, N. N.

“…Focal epilepsy is the most common type of epilepsy accounting for 60–70% of all cases of this pathology. We present two familial cases of focal epilepsy…”
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Clinical case of distal arthrogryposis in combination with epilepsy due to an unbalanced translocation by Kozhanova, T. V., Zhilina, S. S., Meshсheryakova, T. I., Prokopyeva, N. P., Prityko, A. G., Zavadenko, N. N.

“…The clinical case of a patient with congenital contractures of the lower and upper limbs, face, seizures, facial dysmorphias, motor disorders and psychomotor…”
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SPTAN1-associated developmental and epileptic encephalopathy by Kozhanova, T. V., Zhilina, S. S., Meshcheryakova, T. I., Lukyanova, E. G., Bolshakova, E. S., Ayvazyan, S. O., Osipova, K. V., Vlasov, P. A., Krapivkin, A. I., Zavadenko, N. N.

“…The article presents the clinical cases of 6 patients with epilepsy, psychomotor and speech developmental delay. The heterozygous variants of the nucleotide…”
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The Frequency of Hepatitis Virus Infection Markers Among Highly Qualified Sportsmen by Ilchenko, L. Yu, Morozov, I. A., Kozhanova, T. V., Soboleva, N. V., Melnikova, L. I., Kruglova, I. V.

“…Study Objective is to evaluate prevalence of hepatitis A, B, C, E, and TT virus infection markers in highly qualified sportsmen. Study Design: multicenter open…”
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New mutation in the TRIP4 gene associated with congenital muscular dystrophy Davignon–Chauveau type (clinical case) by Kozhanova, T. V., Zhilina, S. S., Mescheryakova, T. I., Shorina, M. Yu, Demenshin, I. F., Prokopiev, G. G., Kanivets, I. V., Suchorukov, V. S., Anufriev, P. L., Baranich, T. I., Kozina, A. A., Prityko, A. G.

“…Congenital muscular dystrophies are heterogeneous groups of neuromuscular diseases leading to hypotonia, progressive muscle weakness and dystrophic or…”
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Clinical case of epilepsy, hearing loss and mental retardation syndrome associated with mutations in SPATA5 gene by Kozhanova, T. V., Zhilina, S. S., Meshcheryakova, T. I., Luk’yanova, E. G., Osipova, K. V., Ayvazyan, S. O., Prityko, A. G., Zavadenko, N. N.

“…We present the clinical case of patient with epilepsy, developmental retardation and hearing loss. The whole exome sequencing allowed to reveal compound…”
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Significance of exome sequencing for diagnosis of epilepsy in children by Kozhanova, T. V., Zhilina, S. S., Meshheryakova, T. I., Osipova, K. V., Ayvazyan, S. O., Prityko, A. G.

“…Introduction. Epilepsy is a neurological disorder characterized by periodic seizure attacks. Around 70–80% of epilepsy cases have a hereditary component.Aim:…”
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Helsmoortel-van der Aa syndrome syndrome in a patient with epilepsy, developmental delay, intellectual disability, and autism spectrum disorder by Kozhanova, T. V., Zhilina, S. S., Mescheryakova, T. I., Luk`yanova, E. G., Osipova, K. V., Ayvazyan, S. O., Prityko, A. G.

“…Autism spectrum disorders (ASDs) are a group of complex disintegrative disorders of mental development, characterized by a lack of ability to social…”
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Early infantile epileptic encephalopathy type 16: the new clinical and genetic variant of TBC1D24 gene mutation by Kholin, A. A., Fedonyuk, I. D., Dovelman, O. P., Zavadenko, N. N., Kozhanova, T. V., Kholina, E. A., Khondkarian, G. Sh, Il`ina, E. S.

“…Objective: to analyse the clinical and neurophysiological data from a case of early infantile epileptic encephalopathy type 16 in a child with homozygous…”
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Mutation of the ALDH7A1 gene in a patient with pyridoxal phosphate-dependent neonatal epileptic encephalopathy: a clinical case by Kozhanova, T. V., Zhilina, S. S., Mescheryakova, T. I., Lukyanova, E. G., Osipova, K. V., Ayvazyan, S. O., Prityko, A. G.

“…The article presents a clinical case of severe infantile generalized idiopathic epilepsy with status-like seizures, muscular dystonia and developmental delay…”
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THE GENETIC SUSCEPTIBILITY TO ATHEROSCLEROSIS by Kozhanova, T. V., Neudakhin, E. V., Zhilina, S. S., Mescheryakova, T. I., Abramov, A. A., Lukash, E. N., Prityko, A. G.

“…Atherosclerosis is a complex multifocal arterial disease involving interactions of multiple genetic and environmental factors. Atherosclerosis is the main…”
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FREQUENCY OF DETECTION OF ANTIBODIES TO HEPATITIS C VIRUS AMONG CONVENTIONALLY HEALTHY POPULATION OF RUSSIAN FEDERATION by Soboleva, N. V., Karlsen, A. A., Kozhanova, T. V., Kichatova, V. S., Klushkina, V. V., Isaeva, O. V., Ignatyeva, M. E., Romanenko, VV, Oorzhak, N. D., Malinnikova, E. Yu, Kyuregyan, K. K., Mikhaylov, M. I.

“…Aim. Determine the prevalence of antibodies to hepatitis C virus (anti-HCV) among conditionally healthy population of Russian Federation. Materials and…”
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The prevalence of the hepatitis C virus among the conditionally healthy population of the Russian Federation by Soboleva, N. V., Karlsen, A. A., Kozhanova, T. V., Kichatova, V. S., Klushkina, V. V., Isaeva, O. V., Ignatieva, M. E., Romanenko, V. V., Oorzhak, N. D., Malinnikova, E. Yu, Kuregyan, K. K., Mikhailov, M. I.

“…Aim. To determine the prevalence of hepatitis C virus (HCV) in different age groups of the conditionally healthy population of Russia.Materials and methods…”
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The diagnosis of idiopathic epilepsy in children based on the algorithm of molecular-genetic studies by Kozhanova, T V, Zhylina, S S, Aivazian, S O, Ananyeva, T V, Abramov, A A, Belenikin, M S, Meshcheryakova, T I, Mutovin, G R, Zavadenko, N N

“…To study mutations and polymorphisms in the sodium channels genes, determining the development of idiopathic epilepsy (IE). The study of SCN1A gene by direct…”
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Prevalence of hepatitis E markers in children by Potemkin, I A, Lopatukhina, M A, Gadzhieva, O A, Prokhorova, E L, Diyarrassuba, A, Isaeva, O A, Kozhanova, T V, Ivanova, O E, Silenova, O V, Setdikova, N Kh, Kyuregyan, K K, Mikhailov, M I

“…Frequency of detection determination for past and current hepatitis E virus (HEV) infection markers in children with immune suppression, as well as children…”
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The panels of serums, containing various subtypes and mutant forms of HBsAg, to evaluate the diagnostics sensitivity of kits oa reagents detecting HBsAg by Kozhanova, T V, Klushkina, V V, Isaeva, O V, Popova, O E, Netesova, I G, Kiuregian, K K, Mikhaĭlov, M I

“…The detection of HBsAg in blood serum using immune-enzyme analysis techniques decisively matters both for diagnostics of acute and chronic hepatitis B and…”
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Diagnosis of hepatitis c today and interpretation of infection markers by T. V. Kozhanova

“…Viral hepatitis C is one of the most pressing global health issues. Infection caused by hepatitis C virus is often latent with minimal clinical manifestations,…”
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