المؤلفون: Shafia Nouman, Rosalind Silverman, Lorelei Silverman

مصطلحات موضوعية: Other health sciences not elsewhere classified, esophageal cancer cell model, biomarkers and mechanisms of action, proteomics, Squamous cell carcinoma, Adenocarcinoma, Ube3a gene

العلاقة: https://figshare.com/articles/journal_contribution/_b_Protein-protein_Interactions_and_Novel_Biomarkers_of_Esophageal_Cancer_b_/24597426Test

الإتاحة: https://doi.org/10.6084/m9.figshare.24597426.v1Test
https://figshare.com/articles/journal_contribution/_b_Protein-protein_Interactions_and_Novel_Biomarkers_of_Esophageal_Cancer_b_/24597426Test

المؤلفون: Z. K. Gorchkhanova, E. A. Nikolaeva, A. M. Pivovarova, S. V. Bochenkov, E. D. Belousova, З. К. Горчханова, Е. А. Николаева, А. М. Пивоварова, С. В. Боченков, Е. Д. Белоусова

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 67, № 6 (2022); 113-122 ; Российский вестник перинатологии и педиатрии; Том 67, № 6 (2022); 113-122 ; 2500-2228 ; 1027-4065

مصطلحات موضوعية: ген МЕСР, Angelman syndrome, Rett syndrome, epileptic encephalopathy, UBE3A gene, CDKL5 gene, MECP2 gene, синдром Ангельмана, синдром Ретта, эпилептическая энцефалопатия, ген UBE3A, ген СDKL5

وصف الملف: application/pdf

العلاقة: https://www.ped-perinatology.ru/jour/article/view/1752/1333Test; Debopam S. Epilepsy in Angelman syndrome: A scoping review. Brain Dev 2021; 43(1): 32–44. DOI:10.1016/j.braindev.2020.08.014; Williams C.A., Beauder A.L., Clayton-Smith J., Knoll J.H., Kyllerman M., Laan L.A. et al. Angelman syndrome 2005: consensus for diagnostic criteria. Am J Med Genet A 2006; 140(5): 413–418. DOI:10.1002/ajmg.a.31074; Robinson A.A., Goldman S., Barnes G., Goodpaster L., Malow B.A. Electroencephalogram (EEG) duration needed to detect abnormalities in angelman syndrome: is 1 hour of overnight recording sufficient? J Child Neurol 2015; 30: 58–62. DOI:10.1177/0883073814530498; Leyser M., Penna P.S., de Almeida A.C., Vasconcelos M.M., Nascimento O.J. Revisiting epilepsy and the electroencephalogram patterns in Angelman syndrome. Neurol Sci 2014; 35: 701–705. DOI:10.1007/s10072–013–1586–3; Bird L.M. Angelman syndrome: review of clinical and molecular aspects. Appl Clin Genet 2014; 7: 93–104. DOI:10.2147/TACG.S57386; Bahi-Buisson N., Bienvenu T. CDKL5-related disorders: from clinical description to molecular genetics. Mol Syndromol 2012; 2(3–5): 137–152. DOI: 000331333; Bahi-Buisson N., Villeneuve N., Caietta E., Jacquette A., Maurey H., MatthÜs G. et al. Recurrent mutations in the CDKL5gene: genotype-phenotype relationships. Am J Med Genet A 2012; 158A(7): 1612–1619. DOI:10.1002/ajmg.a.35401; Fehr S., Wilson M., Downs J., Williams S., Murgia A. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet 2013; 21(3): 266–273. DOI:10.1038/ejhg.2012.156; Jakimiec M., Paprocka J., Smigiel R. CDKL5 Deficiency Disorder-A Complex Epileptic Encephalopathy. Brain Sciences 2020; 10(2): 107. DOI: org/10.3390/brainsci10020107; Adegbola A.A., Gonzales M.L., Chess A., LaSalle J.M., Cox G.F. A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. Hum Genet 2009; 124: 615–623. 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الإتاحة: https://doi.org/10.21508/1027-4065-2022-67-6-113-122Test
https://doi.org/10.1016/j.braindev.2020.08.014Test
https://doi.org/10.1002/ajmg.a.31074Test
https://doi.org/10.1007/s10072Test–013–1586–3
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https://doi.org/10.1007/s00439Test–008–0585–6
https://doi.org/10.1002/mrdd.10020Test

المؤلفون: Maiko Mitake, Shiori Hirano, Tatsuya Kishino

المصدر: Epigenetics, Vol 16, Iss 7, Pp 729-740 (2021)

مصطلحات موضوعية: genomic imprinting, droplet digital pcr, locked nucleic acid, taqman probe, ube3a gene, angelman syndrome, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1559-2294Test; https://doaj.org/toc/1559-2308Test

الوصول الحر: https://doaj.org/article/cee7d55d15ad40fcb710f8654d987308Test

المؤلفون: Xuechao Zhao, Yuting Zheng, Li Wang, Yanhong Wang, Shiyue Mei, Xiangdong Kong

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)

مصطلحات موضوعية: Angelman syndrome, intellectual disability, missense variant, UBE3A gene, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/cd9cbe7ffa83402190cd64025cbb06a8Test

المؤلفون: E. A. Kurmaeva, S. Ya. Volgina, N. A. Solovyeva, G. A. Kulakova, Е. А. Курмаева, С. Я. Волгина, Н. А. Соловьева, Г. А. Кулакова

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 67, № 5 (2022); 216-219 ; Российский вестник перинатологии и педиатрии; Том 67, № 5 (2022); 216-219 ; 2500-2228 ; 1027-4065

مصطلحات موضوعية: задержка психоречевого развития, Angelman syndrome, chromosome, UBE3A gene, psycho-speech delay, синдром Ангельмана, хромосома, ген UBE3A

وصف الملف: application/pdf

العلاقة: https://www.ped-perinatology.ru/jour/article/view/1728/1310Test; Горчханова З.К., Николаева Е.А., Боченков С.В., Белоусова Е.Д. Анализ клинических проявлений синдрома Ангельмана у детей. Российский вестник перинатологии и педиатрии 2021; 66(6): 63-70. DOI:10.21508/1027-4065-2021-66-6-63-70; Baker E.K., Butler M.G., Hartin S.N., Ling L., Bui M., Francis D. et al. Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders. Transl Psychiatry 2020; 10(1): 362. DOI:10.1038/s41398-020-01034-7; Khatri N., Man H.Y. The Autism and Angelman Syndrome Protein Ube3A/E6AP: The Gene, E3 Ligase Ubiquitination Targets and Neurobiological Functions. Front Mol Neurosci 2019; 12: 109. DOI:10.3389/fnmol.2019.00109; Meng L., Person R.E., Beaudet A.L. Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a. Hum Mol Genet 2012; 21(13): 3001- 3012. DOI:10.1093/hmg/dds130; Миронов М.Б., Мухин К.Ю., Кузина Н.Ю., Боровиков К.С., Гоева И.А., Красильщикова Т.М. и др. Синдром Ангельмана. Клинический случай. Русский журнал детской неврологии 2009; 1(4): 52-62.; Михайлова Н.В., Савинов С.В., Акчурина Я.Е., Абедимова Р.А., Бондарева И.В. Синдром Ангельмана как иллюстрация дифференцированного подхода к диагностике причин аутизма, задержки психомоторного развития и ДЦП. Нейрохирургия и неврология Казахстана 2017; 1(46): 60-63.; Debopam S. Epilepsy in Angelman syndrome: A scoping review. Brain Dev 2021; 43(1): 32-44. DOI:10.1016/j.braindev.2020.08.014; Aghakhanyan G., Bonanni P., Randazzo G., Nappi S., Tessarotto F., De Martin L. et al. From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study. PLoS One 2016; 11(9): 0162817. DOI:10.1371/journal.pone.0162817; Tsagkaris C., Papakosta V., Miranda A.V., Zacharopoulou L., Danilchenko V., Matiashova L., Dhar A. Gene Therapy for Angelman Syndrome: Contemporary Approaches and Future Endeavors. Curr Gene Ther 2020; 19(6): 359-366. DOI: 10.2 174/1566523220666200107151025; Baloghova N., Lidak T., Cermak L. Ubiquitin Ligases Involved in the Regulation of Wnt, TGF-ȕ, and Notch Signaling Pathways and Their Roles in Mouse Development and Homeostasis. Genes (Basel) 2019; 10(10): 815. DOI:10.3390/genes10100815; https://www.ped-perinatology.ru/jour/article/view/1728Test

الإتاحة: https://doi.org/10.21508/1027-4065-2022-67-5-216-219Test
https://doi.org/10.21508/1027-4065-2021-66-6-63-70Test
https://doi.org/10.1038/s41398-020-01034-7Test
https://doi.org/10.3389/fnmol.2019.00109Test
https://doi.org/10.1093/hmg/dds130Test
https://doi.org/10.1016/j.braindev.2020.08.014Test
https://doi.org/10.1371/journal.pone.0162817Test
https://doi.org/10.3390/genes10100815Test
https://www.ped-perinatology.ru/jour/article/view/1728Test

المؤلفون: Z. K. Gorchkhanova, E. A. Nikolaeva, S. V. Bochenkov, E. D. Belousova, З. К. Горчханова, Е. А. Николаева, С. В. Боченков, Е. Д. Белоусова

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 66, № 6 (2021); 63-70 ; Российский вестник перинатологии и педиатрии; Том 66, № 6 (2021); 63-70 ; 2500-2228 ; 1027-4065

مصطلحات موضوعية: делеция 15q11.2–q13, Angelman syndrome, clinical manifestations, early diagnosis, UBE3A gene, 15q11.2–q13 deletion, синдром Ангельмана, клинические проявления, ранняя диагностика, ген UBE3A

وصف الملف: application/pdf

العلاقة: https://www.ped-perinatology.ru/jour/article/view/1531/1179Test; Debopam S. Epilepsy in Angelman syndrome: A scoping review. Brain Dev 2021; 43(1): 32–44. DOI:10.1016/j.braindev.2020.08.014; Angelman H. ‘Puppet’ children. A Report on Three Cases. Development Med Child Neurol 2008. DOI:10.1111/j.14698749.1965.tb07844.x; Pelc K., Boyd S.G., Cheron G., Dan B. Epilepsy in Angelman syndrome. Seizure 2008; 17:211–217. DOI:10.1016/j.seizure.2007.08.004; Park S.H., Yoon J.R., Kim H.D., Lee J.S., Lee Y.M., Kang H.C. Epilepsy in Korean patients with Angelman syndrome. Korean J Pediatr 2012; 55: 171–176. DOI:10.3345/kjp.2012.55.5.171; Thibert R.L., Larson M., Hsieh D.T., Raby A.R., Thiele E.A. Neurologic manifestations of Angelman syndrome. Pediatr Neurol 2013; 48(4): 271–279. DOI:10.1016/j.pediatrneurol.2012.09.015; Meng L., Person R.E., Beaudet A.L. Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a. Hum Mol Genet 2012; 21: 3001–3012. DOI:10.1093/hmg/dds130; Khatri N., Man H.Y. The Autism and Angelman Syndrome Protein Ube3A/E6AP: The Gene, E3 Ligase Ubiquitination Targets and Neurobiological Functions. Front Mol Neurosci 2019; 12:109. DOI:10.3389/fnmol.2019.00109; Baloghova N., Lidak T., Cermak L. Ubiquitin Ligases Involved in the Regulation of Wnt, TGF-β, and Notch Signaling Pathways and Their Roles in Mouse Development and Homeostasis. Genes (Basel) 2019; 10(10): 815. DOI:10.3390/genes10100815; Ramsden S.C., Clayton-Smith J., Birch R., Buiting K. Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes. BMC Med Genet 2010; 11: 70. DOI:10.1186/1471-2350-11-70; Duca D.G., Craiu D., Boer M., Chirieac S.M., Arghir A., Tutulan-Cunita A. et al. Diagnostic approach of Angelman syndrome. Maedica (Buchar) 2013; 8(4): 321–327; Bird L.M. Angelman syndrome: review of clinical and molecular aspects. Appl Clin Genet 2014; 7: 93–104. DOI:10.2147/TACG.S57386; Williams C.A., Beauder A.L., Clayton-Smith J., Knoll J.H., Kyllerman M., Laan L.A. et al. Angelman syndrome 2005: consensus for diagnostic criteria. Am J Med Genet A 2006; 140(5): 413–418. DOI:10.1002/ajmg.a.31074; Николаева Е.А., Воинова В.Ю., Яблонская М.И., Данцев И.С., Березина М.Ю., Харабадзе М.Н. и др. Клинические проявления и структура хромосомной патологии у детей с нарушениями нервно-психического развития в специализированной генетической клинике. Педиатрия. Журнал им. Г.Н. Сперанского 2020; 99(3): 102–108. DOI:10.24110/0031-403Х-2020-99-3-102-108; Van Lierde A., Atza M.G., Giardino D., Viani F. Angelman’s syndrome in the first year of life. Dev Med Child Neurol 1990; 32: 1011–1016. DOI:10.1111/j.1469-8749.1990.tb08125.x; Robinson A.A., Goldman S., Barnes G., Goodpaster L., Malow B.A. Electroencephalogram (EEG) duration needed to detect abnormalities in angelman syndrome: is 1 hour of overnight recording sufficient? J Child Neurol 2015; 30: 58–62. DOI:10.1177/0883073814530498; Leyser M., Penna P.S., de Almeida A.C., Vasconcelos M.M., Nascimento O.J. Revisiting epilepsy and the electroencephalogram patterns in Angelman syndrome. Neurol Sci 2014; 35: 701–705. DOI:10.1007/s10072-013-1586-3; Takaesu Y., Komada Y., Inoue Y. Melatonin profile and its relation to circadian rhythm sleep disorders in Angelman syndrome patients. Sleep Med 2012; 13(9): 1164–1170. DOI:10.1016/j.sleep.2012.06.015; Wang J., Zhang Q., Chen Y., Yu S., Wu X., Bao X. Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene. Mol Genet Genomic Med 2019; 7(11): e968. DOI:10.1002/mgg3.968; https://www.ped-perinatology.ru/jour/article/view/1531Test

الإتاحة: https://doi.org/10.21508/1027-4065-2021-66-6-63-70Test
https://doi.org/10.1016/j.braindev.2020.08.014Test
https://doi.org/10.1111/j.14698749.1965.tb07844.xTest
https://doi.org/10.1016/j.seizure.2007.08.004Test
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https://doi.org/10.3389/fnmol.2019.00109Test
https://doi.org/10.3390/genes10100815Test
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المؤلفون: A. A. Psyanchin, M. Yu. Bobylova, T. Z. Yakupov, А. А. Псянчин, М. Ю. Бобылова, Т. З. Якупов

المصدر: Russian Journal of Child Neurology; Том 17, № 3 (2022); 55-62 ; Русский журнал детской неврологии; Том 17, № 3 (2022); 55-62 ; 2412-9178 ; 2073-8803 ; 10.17650/2073-8803-2022-17-3

مصطلحات موضوعية: методы поведенческой терапии, UBE3A gene, sleep disorders, dyssomnia, epilepsy, video-EEG monitoring, polysomnography, notched-delta activity (Notched-delta), methods of behavioral therapy, ген UBE3A, нарушения сна, диссомния, эпилепсия, видеоэлектроэнцефалографический мониторинг, полисомнография, зубчатая дельта-активность (Notched-delta)

وصف الملف: application/pdf

العلاقة: https://rjdn.abvpress.ru/jour/article/view/406/279Test; Абатуров А.Е., Петренко Л.Л., Кривуша Е.Л. Синдром Ангельмана. Часть 2 (клиника и диагностика). Здоровье ребенка 2015;6(66):119–25.; Кузьмич Г.В., Бобылова М.Ю., Мухин К.Ю. и др. ЭЭГ при синдроме Ангельмана. Зубчатые медленные волны и возрастные характеристики основных ЭЭГ-паттернов. Русский журнал детской неврологии 2021;16(1–2):42–57.; Михайлова Н.В., Савинов С.В., Акчурина Я.Е. и др. Синдром Ангельмана как иллюстрация дифференцированного подхода к диагностике причин аутизма, задержки психомоторного развития и ДЦП. Нейрохирургия и неврология Казахстана 2017;1(46):60–4.; Allen K.D., Kuhn B.R., DeHaai K.A., Wallace D.P. Evaluation of a behavioral treatment package to reduce sleep problems in children with Angelman syndrome. Res Dev Disabil 2013;34(1):676–86. DOI:10.1016/j.ridd.2012.10.001; Braam W., Didden R., Smits M.G., Curfs L.M. 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الإتاحة: https://doi.org/10.17650/2073-8803-2022-17-3-55-62Test
https://doi.org/10.17650/2073-8803-2022-17-3Test
https://doi.org/10.1016/j.ridd.2012.10.001Test
https://doi.org/10.1177/0883073808314153Test
https://doi.org/10.1111/j.1528-1167.2009.02109.xTest
https://doi.org/10.1055/s-2003-42213Test
https://doi.org/10.1186/s13229-018-0214-8Test
https://doi.org/10.1055/s-2005-867080Test
https://doi.org/10.1523/JNEUROSCI.2194-15.2015Test
https://doi.org/10.1093/nar/gku225Test

المؤلفون: G. V. Kuzmich, M. Yu. Bobylova, K. Yu. Mukhin, O. A. Pylaeva, L. Yu. Glukhova, A. S. Bagdasaryan, A. Yu. Zakharova, Г. В. Кузьмич, М. Ю. Бобылова, К. Ю. Мухин, О. А. Пылаева, Л. Ю. Глухова, А. С. Багдасарян, А. Ю. Захарова

المصدر: Russian Journal of Child Neurology; Том 16, № 1-2 (2021); 42-57 ; Русский журнал детской неврологии; Том 16, № 1-2 (2021); 42-57 ; 2412-9178 ; 2073-8803 ; 10.17650/2073-8803-2021-16-1-2

مصطلحات موضوعية: доброкачественные эпилептиформные паттерны детства, UBE3A gene, epilepsy, electroencephalography, video EEG monitoring, notched delta activity, delta-theta-OPT pattern, benign epileptiform discharges of childhood, ген UBE3A, эпилепсия, электроэнцефалография, видео-ЭЭг-мониторинг, зубчатая дельта-активность, паттерн дельта-тета-ОРТ

وصف الملف: application/pdf

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الإتاحة: https://doi.org/10.17650/2073-8803-2021-16-1-2-42-57Test
https://doi.org/10.17650/2073-8803-2021-16-1-2Test
https://doi.org/10.1007/BF00441976Test
https://doi.org/10.1186/s13229-018-0214-8Test
https://doi.org/10.1016/0013-4694Test(82)90161-4
https://doi.org/10.1097/01.wnp.0000167930.90824.0fTest
https://doi.org/10.1111/j.1528-1157.1997.tb01097.xTest
https://doi.org/10.1046/j.1528-1157.2002.30802.xTest
https://doi.org/10.1111/j.1528-1157.1992.tb01763.xTest
https://doi.org/10.1002/ana.410430412Test

المؤلفون: Atsushi Manabe, Sachiko Nakakubo, Hideaki Shiraishi, Kiyoshi Egawa, Takeru Goto, Shuhei Kimura

المصدر: Brain and Development. 43:515-520

مصطلحات موضوعية: Male, medicine.medical_specialty, Ubiquitin-Protein Ligases, medicine.medical_treatment, Intraperitoneal injection, UBE3A gene, Tetrazoles, Mice, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Developmental Neuroscience, Seizures, Internal medicine, Angelman syndrome, Flurothyl, medicine, Animals, Young adult, Inhalation, business.industry, General Medicine, medicine.disease, Disease Models, Animal, Seizure susceptibility, Endocrinology, Pediatrics, Perinatology and Child Health, Disease Susceptibility, Neurology (clinical), Angelman Syndrome, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29761ea3540dead915f1c25e2266e786Test
https://doi.org/10.1016/j.braindev.2020.12.011Test

المؤلفون: Ype Elgersma, Monica Sonzogni

المصدر: Developmental Medicine and Child Neurology

مصطلحات موضوعية: 030506 rehabilitation, congenital, hereditary, and neonatal diseases and abnormalities, Ubiquitin-Protein Ligases, UBE3A gene, Reviews, Disease, Biology, Bioinformatics, Mice, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Angelman syndrome, UBE3A, medicine, Animals, Humans, Postnatal brain, chemistry.chemical_classification, DNA ligase, Invited Review, Oligonucleotides, Antisense, medicine.disease, Disease Models, Animal, chemistry, Pediatrics, Perinatology and Child Health, Antisense oligonucleotides, Neurology (clinical), Angelman Syndrome, 0305 other medical science, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58cdce85f0d1763879e18d53d8a7a4d5Test
http://www.scopus.com/inward/record.url?scp=85100332205&partnerID=8YFLogxKTest