Search Results - "N, ZHURKOVA"

Clinical and Molecular Genetic Characteristics of Patients with Oculocutaneous Albinism Type 1 by Ionova, S. A., Kadyshev, V. V., Zhurkova, N. V., Marahonov, A. V., Zinchenko, R. A.

“…Albinism is a heterogeneous group of genetically determined diseases associated with complete or partial disruption of melanin synthesis. There are various…”
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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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P113 Duplication 15q11-q13 syndrome in patients with autism spectrum disorder: 5 new cases by Kondakova, OB, Grebenkin, DI, Zhurkova, NV, Batysheva, TT, Vashakmadze, N

“…BackgroundDuplication 15q11.2 - q13 characterized by autism spectrum disorder (ASD), intellectual disability, motor delays and epilepsy, particularly infantile…”
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81 Pitt-Hopkins syndrome by Kondakova, OB, Grebenkin, DI, Zhurkova, NV, Batysheva, TT, Lialina, AA, Khrustaleva, EV, Kanivets, IV

“…Pitt-Hopkins syndrome is rare inherited disease, characterized by mental retardation, moderate to severe, autistic disorders, breathing problems, seizures,…”
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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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P14 Congenital disorder of glycosylation ib type (CDG IB): 2 cases of diagnostics and treatment by Migali, AV, Kazakova, KA, Zhurkova, NV, Mitish, MD, Studenikin, VM, Akoev, YuS

“…CDG Ib type is a rare autosomal recessive disorder (OMIM 154550) manifesting as coagulopathy, hypoglycemia, enteropathy, liver damage, delayed physical…”
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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 by Namazova-Baranova, LS, Savostyanov, KV, Vashkamadze, ND, Zhurkova, NV, Pushkov, AA, Polunina, TA

“…Background and aimsLast five years more than 50 novel microdeletion and microduplication syndromes were described. Sometimes we find rare chromosome anomalies,…”
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P77 1P36 deletion syndrome in children with cardiomyopathy: two clinical cases by Zhurkova, NV, Pushkov, AA, Savostyanov, KV, Basargina, EN, Pakhomov, AV, Ermolenko, VS, Derevianina, YV

“…Background and aimsSyndrome deletion of chromosome region 1 p36 is a chromosome syndrome with multiple anomalies, congenital heart disease and mental…”
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Congenital short bowel syndrome: a case report and review of the literature by Dyakonova, E. Yu, Gurskaya, A. S., Nakovkin, O. N., Kazakova, K. A., Varichkina, M. A., Zhurkova, N. V., Baiazitov, R. R., Akhmedova, D. M., Tarzian, A. O., Shchukina, A. A.

“…Congenital short bowel syndrome is a rare condition of the newborn, with several reports demonstrating high mortality. For the first time in Russia, we report…”
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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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PROSPECTS OF DIAGNOSTICS OF AUTISM SPECTRUM DISORDERS IN CHILDREN by Novoselova, O. G., Karkashadze, G. A., Zhurkova, N. V., Maslova, O. I.

“…The relevance of a problem of autism spectrum disorder in children and the modern view on etiology and pathogenesis of these states are revealed in the…”
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ORNITHINE TRANSCARBAMYLASE DEFICIENCY – THE REAL CAUSE OF “FAMILY CURSE”. A CASE REPORT by Bagomedova, Zh. Sh, Kotov, A. S., Borisova, M. N., Panteleeva, M. V., Zhurkova, N. V., Byome, A. A., Kotalevskaya, Yu. Yu, Mironova, O. S., Razheva, I. V.

“…Ornithine transcarbamylase deficiency (type II hyperammonemia) – X-linked metabolic disorder of the urea cycle, caused by mutations of the gene encoding…”
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EFFECTIVENESS OF MODERN METHODS OF TREATING TYPE I MUCOPOLYSACCHARIDOSIS PATIENTS by Namazova-Baranova, L. S., Vashakmadze, N. D., Babaikina, M. A., Basargina, E. N., Zhurkova, N. V., Gevorkyan, A. K., Kuzenkova, L. M., Podkletnova, T. V., Zherdev, K. V., Chelpachenko, O. B., Degtyareva, T. D.

“…Type I mucopolysaccharidosis (MPS) is a hereditary metabolic disease related to lysosomal storage diseases. Alpha-L-iduronidase enzyme deficiency leads to…”
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EXPERIENCE IN APPLICATION OF CANAKINUMAB IN PATIENTS WITH CRYOPYRIN-ASSOCIATED SYNDROME (SYNDROME CINCA/NOMID) by Sleptsova, T. V., Alexeeva, E. I., Savost’yanov, K. V., Pushkov, A. A., Nikitin, A. G., Bzarova, T. M., Valieva, S. I., Fetisova, A. N., Pakhomov, A. V., Zhurkova, N. V., Denisova, R. V., Isaeva, K. B., Chistyakova, E. G.

“…The article describes the monitoring of severe cryopyrin-associated syndrome (syndrome CINCA/NOMID). The following clinical case indicates successful…”
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P4Association study of the beta 2-adrenergic receptor gene polymorphisms and efficiency of broncholytic therapy among russian children with bronchial asthma by I, Balabolkin, V, Bulgakova, O, Bryantseva, N, Zhurkova, V, Pinelis, E, Tumentseva

“…BackgroundThe variability of the pharmacological response to beta 2 ( beta 2)-agonists may be due to the polymorphism of the gene of beta 2 adrenergic receptor…”
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P123Rare 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…”
Get full text

P4 Association study of the β2-adrenergic receptor gene polymorphisms and efficiency of broncholytic therapy among russian children with bronchial asthma by Balabolkin, I, Bulgakova, V, Bryantseva, O, Zhurkova, N, Pinelis, V, Tumentseva, E

“…BackgroundThe variability of the pharmacological response to beta 2 (β2)-agonists may be due to the polymorphism of the gene of β2 adrenergic receptor (ADRβ2)…”
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P14Congenital disorder of glycosylation ib type (CDG IB): 2 cases of diagnostics and treatment by Migali, A V, Kazakova, KA, Zhurkova, N V, Mitish, MD, Studenikin, V M, Akoev, YuS

“…CDG Ib type is a rare autosomal recessive disorder (OMIM 154550) manifesting as coagulopathy, hypoglycemia, enteropathy, liver damage, delayed physical…”
Get full text

P79Clinical case of rare chromosome pathology: combined deletion 7p21.1-p15.2 and deletion 22q12.1 in patient with mental retardation by Namazova-Baranova, L S, Savostyanov, K V, Vashkamadze, N D, Zhurkova, N V, Pushkov, A A, Polunina, T A

“…Background and aimsLast five years more than 50 novel microdeletion and microduplication syndromes were described. Sometimes we find rare chromosome anomalies,…”
Get full text

P771P36 deletion syndrome in children with cardiomyopathy: two clinical cases by Zhurkova, N V, Pushkov, A A, Savostyanov, K V, Basargina, EN, Pakhomov, A V, Ermolenko, V S, Derevianina, Y V

“…Background and aimsSyndrome deletion of chromosome region 1 p36 is a chromosome syndrome with multiple anomalies, congenital heart disease and mental…”
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