Search Results - "Schagina, O. A."

X‐linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation by Milovidova, T.B., Schagina, O.A., Freire, M.V., Demina, N.A., Filatova, A.Y., Skoblov, M.Y., Stepanova, A.A., Chuhrova, A.L., Polyakov, A.V.

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Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation) by Markova, T. V., Borovikov, A. O., Lozier, E. R., Isaev, A. A., Kaimonov, V. S., Pomerantseva, E. A., Konovalov, F. A., Schagina, O. A., Dadali, E. L.

“…Early epileptic encephalopathy-66 was first diagnosed in a male patient from Russia using whole-exome sequencing. Early epileptic encephalopathy- 66 is a…”
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Clinical and genetic characteristics of the syndrome of contractures of the limbs and face, hypothony and psychomotor retardation (OMIM: 616 266), caused by mutations in the NALCN gene by Borovikov, A. O., Sharkova, I. V., Ryzhkova, O. P., Chukhrova, A. L., Schagina, O. A., Markova, T. V., Dadali, E. L.

“…A description of the clinical and genetic characteristics of the syndrome of congenital contractures of the limbs and face in combination with muscular…”
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MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic by Khidiyatova, I. M., Skachkova, I. A., Saifullina, E. V., Magzhanov, R. V., Schagina, O. A., Zinchenko, R. A., Petrin, A. N., Khusnutdinova, E. K.

“…Hereditary motor and sensory neuropathy (HMSN) type IIA is caused by mutations in the mitofusin type-2 ( MFN2 ) gene and represents one of the most common…”
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Deletions in AZFc Region of Y Chromosome in Russian Fertile Men by Chernykh, V. B., Ryzhkova, O. P., Kuznetsova, I. A., Kazaryan, M. S., Sorokina, T. M., Kurilo, L. F., Schagina, O. A., Polyakov, A. V.

“…The Y chromosome microdeletions are one of the common copy number variations (CNVs) associated with male (sub)infertility. The frequency and spectrum of AZFc…”
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Complex Molecular Diagnostics of Hemophilia A in Russian Patients by Beskorovainaya, T. S., Milovidova, T. B., Schagina, O. A., Ryzhkova, O. P., Polyakov, A. V.

“…Hemophilia A is a frequent X-linked recessive blood clotting disorder. It is caused by mutations in the F8 gene (locus Xq28) and affects 1 in 5000 newborn…”
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HTT Gene Premutation Allele Frequencies in the Russian Federation by Zabnenkova, V., Schagina, O. A., Galeeva, N. M., Kopishinskaya, S. V., Polyakov, A. V.

“…Huntington disease (Huntington chorea, HD) is a severe neurodegenerative disease determined by polyglutamine. Polyglutamine expansion in exon 1 of the HTT gene…”
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Clinical and genetic characteristcs of hereditary motor and sensory neuropathy type IIA by E. L. Dadali, O. A. Schagina, V. P. Fedotov

“…In this study, clinical manifestations of hereditary motor andsensory neuropathy type IIA (HMSN IIA, orCharcotMarieTooth disease type 2A) were analyzed in…”
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MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic by Khidiyatova, I M, Skachkova, I A, Saifullina, E V, Magzhanov, R V, Schagina, O A, Zinchenko, R A, Petrin, A N, Khusnutdinova, E K

“…Hereditary motor and sensory neuropathy (HMSN) type IIA is caused by mutations in the mitofusin type-2 (MFN2) gene and represents one of the most common axonal…”
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Клинико-генетические характеристики ранней эпилептической энцефалопатии 66‑го типа (обзор литературы и собственное наблюдение) by Маркова, Т В, Боровиков, А О, Лозиер, E Р, Исаев, А А, Каймонов, В С, Померанцева, Е А, Коновалов, Ф А, Щагина, О А, Дадали, Е Л, Markova, T V, Borovikov, A O, Lozier, E R, Isaev, A A, Kaimonov, V S, Pomerantseva, E A, Konovalov, F A, Schagina, O A, Dadali, E L

“…Представлено первое описание клинико-генетических характеристик российского больного с ранней эпилептической энцефалопатией 66‑го типа. С помощью…”
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Клинико-генетические характеристики синдрома контрактур конечностей и лица, гипотонии и задержки психомоторного развития (OMIM:616 266), обусловленного мутациями в гене NALCN by Боровиков, А О, Шаркова, И В, Рыжкова, О П, Чухрова, А Л, Щагина, О А, Маркова, Т В, Дадали, Е Л, Borovikov, A O, Sharkova, I V, Ryzhkova, O P, Chukhrova, A L, Schagina, O A, Markova, T V, Dadali, E L

“…Представлено описание клинико-генетических характеристик синдрома врожденных контрактур конечностей и лица в сочетании с мышечной гипотонией и задержкой…”
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