المؤلفون: А. Ю. Улитин, О. Г. Желудкова, П. И. Иванов, Г. Л. Кобяков, М. В. Мацко, Д. Р. Насхлеташвили, С. А. Проценко, М. В. Рыжова, А. И. Семенова

المصدر: Malignant tumours; Том 14, № 3s2-1 (2024); 183-211 ; Злокачественные опухоли; Том 14, № 3s2-1 (2024); 183-211 ; 2587-6813 ; 2224-5057

مصطلحات موضوعية: ген IDH2, глиобластома, астроцитома, эпендимома, первичная лимфома, герминома, медуллобластома, олигодендроглиома, пинеобластома, метилирование, химиотерапия, лучевая терапия, ген МGMT, ко-делеция 1p/19q, ген IDH1

وصف الملف: application/pdf

Relation: https://www.malignanttumors.org/jour/article/view/1366/971; https://www.malignanttumors.org/jour/article/view/1366

الاتاحة: https://www.malignanttumors.org/jour/article/view/1366
https://doi.org/10.18027/2224-5057-2024-14-3s2-1.1-10

المؤلفون: M. M. Tsyganov, A. A. Frolova, E. A. Kravtsova, I. A. Tsydenova, M. K. Ibragimova, М. М. Цыганов, А. А. Фролова, Е. А. Кравцова, И. А. Цыденова, М. К. Ибрагимова

المساهمون: This research was funded by the Russian Science Foundation (grant No. 22-15-00169), Исследование выполнено при финансовой поддержке Российского научного фонда (грант № 22-15-00169)

المصدر: Advances in Molecular Oncology; Том 11, № 2 (2024); 116-129 ; Успехи молекулярной онкологии; Том 11, № 2 (2024); 116-129 ; 2413-3787 ; 2313-805X

مصطلحات موضوعية: реверсия, cell cultures, BRCAness, homologous recombination deficiency, expression, deletion, amplification, reversion, клеточные культуры, дефицит гомологичной рекомбинации, экспрессия, делеция, амплификация

وصف الملف: application/pdf

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الاتاحة: https://umo.abvpress.ru/jour/article/view/682
https://doi.org/10.17650/2313-805X-2024-11-2-116-129

المؤلفون: N. V. Shilova, M. E. Minzhenkova, Zh. G. Markova, G. N. Matyschenko, Н. В. Шилова, М. Е. Миньженкова, Ж. Г. Маркова, Г. Н. Матющенко

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 69, № 3 (2024); 80-85 ; Российский вестник перинатологии и педиатрии; Том 69, № 3 (2024); 80-85 ; 2500-2228 ; 1027-4065

مصطلحات موضوعية: патологическая мейотическая сегрегация, Prader–Willi syndrome, 15q deletion, reciprocal translocation, meiotic malsegregation, синдром Прадера–Вилли, делеция 15q, реципрокная транслокация

وصف الملف: application/pdf

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الاتاحة: https://www.ped-perinatology.ru/jour/article/view/2008
https://doi.org/10.21508/1027-4065-2024-69-3-80-85

المؤلفون: P. L. Sokolov, N. V. Chebanenko, Yu. A. Fedotova, D. M. Mednaya, П. Л. Соколов, Н. В. Чебаненко, Ю. А. Федотова, Д. М. Медная

المصدر: Russian Journal of Child Neurology; Том 19, № 1 (2024); 48‑53 ; Русский журнал детской неврологии; Том 19, № 1 (2024); 48‑53 ; 2412-9178 ; 2073-8803

مصطلحات موضوعية: LETM1, cerebral palsy, Wolf–Hirshhorn syndrome, deletion of chromosome 4p, PIGG, CPLX1, CTBP1, церебральный паралич, синдром Вольфа–Хиршхорна, делеция хромосомы 4p

وصف الملف: application/pdf

Relation: https://rjdn.abvpress.ru/jour/article/view/460/315; Бобылова М.Ю., Мухин К.Ю., Кузьмич Г.В. и др. Эпилепсия при синдроме Ангельмана. Журнал неврологии и психиатрии им. С.С. Корсакова 2022;122(7):100–5. DOI:10.17116/jnevro2022122071100; Косинова Е.И., Зубцова Т.И., Полшведкина О.Б., Колесникова Ю.Г. Синдром Вольфа–Хиршхорна: обзор трех клинических случаев. Медицинская генетика 2023;22(1):36–42. DOI:10.25557/2073-7998.2023.01.36-42; Миронов М.Б., Чебаненко Н.В., Айвазян С.О. и др. Эпилепсия при синдроме Вольфа–Хиршхорна: обзор литературы и описание клинических случаев. Эпилепсия и пароксизмальные состояния 2018;10(4):39–52. DOI:10.17749/2077-8333.2018.10.4.039-052; Соколов П.Л., Чебаненко Н.В., Притыко А.Г., Романов П.А. Генетическая гетерогенность врожденных церебральных параличей и концепция нейротропного генома. Русский журнал детской неврологии 2022;17(4):8–23. DOI:10.17650/2073-8803-2022-17-4-8-23; Сыркина А.В., Чебаненко Н.В., Зыков В.П., Михайлова Н.С. Синдром Якобсена: обзор литературы и клиническое наблюдение. Русский журнал детской неврологии 2022;17(2):55–60.; Чебаненко Н.В., Соколов П.Л., Притыко А.Г. Врожденные церебральные параличи, сопровождающиеся эпилепсией: клинико-генетические сопоставления. Русский журнал детской неврологии 2022;17(3):43–54.; Юрченко Д.А., Миньженкова М.Е., Маркова Ж.Г. и др. Гетерогенность механизмов формирования хромосомного дисбаланса при синдроме Вольфа–Хиршхорна. Медицинская генетика 2022;21(11):59–61.; Balabhadra A., Parekh M., Patil A., Jayalakshmi S. A case of drugresistant epilepsy associated with ring chromosome 20. Ann Indian Acad Neurol 2021;24(5):805–7. DOI:10.4103/aian.AIAN_1292_20; Briand-Suleau A., Martinovic J., Tosca L. et al. SALL4 and NFATC2: Two major actors of interstitial 20q13.2 duplication. Eur J Med Genet 2014;57(4):174–80. DOI:10.1016/j.ejmg.2013.12.013; Corrêa T., Mayndra M., Santos-Rebouças C.B. Distinct epileptogenic mechanisms associated with seizures in Wolf–Hirschhorn syndrome. Mol Neurobiol 2022;59(5):3159–69. DOI:10.1007/s12035-022-02792-9; Duval R., Nicolas G., Willemetz A. et al. Inherited glycosylphosphatidylinositol defects cause the rare Emmnegative blood phenotype and developmental disorders. Blood 2021;137(26):3660–9. DOI:10.1182/blood.2020009810; Gavril E.C., Luca A.C., Curpan A.S. et al. Wolf–Hirschhorn syndrome: Clinical and genetic study of 7 new cases, and mini review. Children (Basel) 2021;8(9):751. DOI:10.3390/children8090751; Giardino D., Vignoli A., Ballarati L. et al. Genetic investigations on 8 patients affected by ring 20 chromosome syndrome. BMC Med Genet 2010;11:146. DOI:10.1186/1471-2350-11-146; Goetzinger L., Starks R.D., Dillahunt K. et al. Interstitial duplication of 20q11.22q13.11: A case report and review of literature. Mol Genet Genomic Med 2021;9(8):e1755. DOI:10.1002/mgg3.1755; Gomes Mda M., Lucca I., Bezerra S.A. et al. Epilepsy and ring chromosome 20: Case report. Arq Neuropsiquiatr 2002;60(3–A):631–5. DOI:10.1590/s0004-282x2002000400022; Ho K.S., South S.T., Lortz A. et al. Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome. J Med Genet 2016;53(4):256–63. DOI:10.1136/jmedgenet-2015-103626; Jiang D., Zhao L., Clish C.B., Clapham D.E. Letm1, the mitochondrial Ca2+/H+ antiporter, is essential for normal glucose metabolism and alters brain function in Wolf–Hirschhorn syndrome. Proc Natl Acad Sci USA 2013;110(24):E2249–E2254. DOI:10.1073/pnas.1308558110; Kumar V., Carlson J.E., Ohgi K.A. et al. Transcription corepressor CtBP is an NAD(+)-regulated dehydrogenase. Mol Cell 2002;10(4):857–69. DOI:10.1016/s1097-2765(02)00650-0; Li Y., Tran Q., Shrestha R. et al. LETM1 is required for mitochondrial homeostasis and cellular viability (Review). Mol Med Rep 2019;19(5):3367–75. DOI:10.3892/mmr.2019.10041; Park S., Jeon B.R., Lee Y.K. et al. The first Korean case of de novo proximal 4p deletion syndrome in a child with developmental delay. Ann Lab Med 2020;40(5):435–7. DOI:10.3343/alm.2020.40.5.435; Patil A.A., Vinayan K.P., Roy A.G. Epilepsy in ring chromosome 20 syndrome might have variable clinical features. Ann Indian Acad Neurol 2020;23(5):718–22. DOI:10.4103/aian.AIAN_32_20; Popescu D.E., Marian D., Zeleniuc M. et al. Features of the Wolf–Hirschhorn syndrome (WHS) from infant to young teenager. Balkan J Med Genet 2023;26(1):75–82. DOI:10.2478/bjmg-2023-0006; Redler S., Strom T.M., Wieland T. et al. Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. Eur J Hum Genet 2017;25(7):889–93. DOI:10.1038/ejhg.2017.52; Tremblay-Laganière C., Maroofian R., Nguyen T.T.M. et al. PIGG variant pathogenicity assessment reveals characteristic features within 19 families. Genet Med 2021;23(10):1873–81. DOI:10.1038/s41436-021-01215-9; Uzay B., Kavalali E.T. Genetic disorders of neurotransmitter release machinery. Front Synaptic Neurosci 2023;15:1148957. DOI:10.3389/fnsyn.2023.1148957; Zhang X., Lu H., Yang H. et al. Genotype-phenotype correlation of deletions and duplications of 4p: Case reports and literature review. Front Genet 2023;14:1174314. DOI:10.3389/fgene.2023.1174314; Zhang X., Chen G., Lu Y., Liu J. et al. Association of mitochondrial letm1 with epileptic seizures. Cereb Cortex 2014;24:2533–40. DOI:10.1093/cercor/bht118; Zollino M., Orteschi D., Ruiter M. et al. Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf–Hirschhorn syndrome-associated seizures disorder. Epilepsia 2014;55(6):849–57. DOI:10.1111/epi.12617; https://rjdn.abvpress.ru/jour/article/view/460

الاتاحة: https://rjdn.abvpress.ru/jour/article/view/460
https://doi.org/10.17650/2073-8803-2024-19-1-48-53

المؤلفون: E. I. Kosinova, Т. I. Zubtsova, O. B. Polshvedkina, Yu. G. Kolesnikova, Е. И. Косинова, Т. И. Зубцова, О. Б. Полшведкина, Ю. Г. Колесникова

المساهمون: The study was carried out without sponsorship, Исследование выполнено без спонсорской поддержки

المصدر: Medical Genetics; Том 22, № 1 (2023); 36-42 ; Медицинская генетика; Том 22, № 1 (2023); 36-42 ; 2073-7998

مصطلحات موضوعية: 4p-синдром, 4p deletion, WHS, 4p-syndrome, делеция 4р

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/2241/1690; Battaglia A., Filippi T., Carey J. C. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision. Am J Med Genet C Semin Med Genet. 2008 Nov 15; 148C(4): 246-51. doi:10.1002/ajmg.c.30187.; Mekkawy M. K., Kamel A. K., Thomas M. M., Ashaat E. A., Zaki M. S., Eid O. M., Ismail S., Hammad S. A., Megahed H., El Awady H., Refaat K. M., Hussien S., Helmy N., Abd Allah S. G., Mohamed A. M., El Ruby M. O. Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature. Mol Genet Genomic Med. 2021 Feb; 9 (2): e1546. doi:10.1002/mgg3.1546.; Sharathkumar A., Kirby M., Freedman M., Abdelhaleem M., Chitayat D., Teshima I. E., Dror Y. Malignant hematological disorders in children with Wolf-Hirschhorn syndrome. Am J Med Genet A. 2003 Jun 1; 119A(2): 194-9. doi:10.1002/ajmg.a.20080.; Batton B., Amanullah A., Main C., Fivenson D., Jamil S. Cutaneous T-cell lymphoma in a 21-year-old male with Wolf-Hirschhorn syndrome. Am J Med Genet A. 2004 May 15; 127A(1): 81-5. doi:10.1002/ajmg.a.20608.; Marte A., Indolfi P., Ficociello C., Russo D., Oreste M., Bottigliero G., Gualdiero G., Barone C., Vigliar E., Indolfi C., Casale F. Inflammatory myofibroblastic bladder tumor in a patient with wolf-hirschhorn syndrome. Case Rep Urol. 2013; 2013: 675059. doi:10.1155/2013/675059.; https://www.medgen-journal.ru/jour/article/view/2241

الاتاحة: https://www.medgen-journal.ru/jour/article/view/2241
https://doi.org/10.25557/2073-7998.2023.01.36-42

المؤلفون: А. Ю. Улитин, О. Г. Желудкова, П. И. Иванов, Г. Л. Кобяков, М. В. Мацко, Д. Р. Насхлеташвили, С. А. Проценко, М. Ф. Рыжова

المصدر: Malignant tumours; Том 13, № 3s2-1 (2023); 120-147 ; Злокачественные опухоли; Том 13, № 3s2-1 (2023); 120-147 ; 2587-6813 ; 2224-5057

مصطلحات موضوعية: ген IDH2, глиобластома, астроцитома, эпендимома, первичная лимфома, герминома, медуллобластома, олигодендроглиома, пинеобластома, метилирование, химиотерапия, лучевая терапия, ген МGMT, ко-делеция 1p/19q, ген IDH1

وصف الملف: application/pdf

Relation: https://www.malignanttumors.org/jour/article/view/1207/842; https://www.malignanttumors.org/jour/article/view/1207

الاتاحة: https://www.malignanttumors.org/jour/article/view/1207
https://doi.org/10.18027/2224-5057-2023-13-3s2-1-120-147

المؤلفون: A. V. Syrkina, N. V. Chebanenko, V. P. Zykov, N. S. Mikhailova

المصدر: Русский журнал детской неврологии, Vol 17, Iss 2, Pp 55-60 (2022)

مصطلحات موضوعية: синдром якобсена, делеция длинного плеча хромосомы 11, делеция 11q23, гипомиелинизация, гемипарез, синдром пэрис–труссо, аутизм, задержка психомоторного развития, иммунодефицит, Neurology. Diseases of the nervous system, RC346-429

Relation: https://rjdn.abvpress.ru/jour/article/view/399; https://doaj.org/toc/2073-8803; https://doaj.org/toc/2412-9178; https://doaj.org/article/93f4155de89a44f5899d70357769724f

الاتاحة: https://doi.org/10.17650/2073-8803-2022-17-2-55-60
https://doaj.org/article/93f4155de89a44f5899d70357769724f

المؤلفون: Chemyakina, K. N., Lepeshkova, T. S., Чемякина, К. Н., Лепешкова, Т. С.

المصدر: Сборник статей

مصطلحات موضوعية: DI GEORGE SYNDROME, DELETION 22Q11.2, CONGENITAL IMMUNODEFICIENCY DISORDER, PRIMARY IMMUNODEFICIENCY, CHROMOSOMAL DISEASES, СИНДРОМ ДИ ДЖОРДЖИ, ДЕЛЕЦИЯ 22Q11.2, ВРОЖДЕННЫЙ ИММУНОДЕФИЦИТ, ПЕРВИЧНЫЕ ИММУНОДЕФИЦИТЫ, ХРОМОСОМНЫЕ БОЛЕЗНИ

وصف الملف: application/pdf

Relation: Актуальные вопросы современной медицинской науки и здравоохранения: материалы VII Международной научно-практической конференции молодых учёных и студентов, Екатеринбург, 17-18 мая 2022 г.; Чемякина, К. Н. Синдром Саtch 22: синдром Ди Джорджи – синдром делеции 22 хромосомы. Клинический случай / К. Н. Чемякина, Т. С. Лепешкова. // Актуальные вопросы современной медицинской науки и здравоохранения: материалы VII Международной научно-практической конференции молодых учёных и студентов, Екатеринбург, 17-18 мая 2022 г. – Екатеринбург : УГМУ, 2022. – C. 2380-2384.; http://elib.usma.ru/handle/usma/10024

الاتاحة: http://elib.usma.ru/handle/usma/10024

المؤلفون: A. V. Igoshin, G. A. Romashov, E. N. Chernyaeva, N. P. Elatkin, N. S. Yudin, D. M. Larkin, А. В. Игошин, Г. А. Ромашов, Е. Н. Черняева, Н. П. Елаткин, Н. С. Юдин, Д. М. Ларкин

المساهمون: The work was supported by the Russian Ministry of Education and Science grant No. 075-15-2021-1004.

المصدر: Vavilov Journal of Genetics and Breeding; Том 26, № 3 (2022); 298-307 ; Вавиловский журнал генетики и селекции; Том 26, № 3 (2022); 298-307 ; 2500-3259 ; 2500-0462 ; 10.18699/VJGB-22-27

مصطلحات موضوعية: делеция, selection, breed, Russian Federation, genetic variants, SNP, insertion, deletion, селекция, порода, Российская Федерация, генетические варианты, инсерция

وصف الملف: application/pdf

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الاتاحة: https://vavilov.elpub.ru/jour/article/view/3364
https://doi.org/10.18699/VJGB-22-28

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

Relation: https://www.ped-perinatology.ru/jour/article/view/1531/1179; 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/1531

الاتاحة: https://www.ped-perinatology.ru/jour/article/view/1531
https://doi.org/10.21508/1027-4065-2021-66-6-63-70

المؤلفون: А. Ю. Улитин, О. Г. Желудкова, П. И. Иванов, Г. Л. Кобяков, М. В. Мацко, Д. Р. Насхлеташвили, С. А. Проценко, М. В. Рыжова

المصدر: Malignant tumours; Том 12, № 3s2-1 (2022); 113-140 ; Злокачественные опухоли; Том 12, № 3s2-1 (2022); 113-140 ; 2587-6813 ; 2224-5057

مصطلحات موضوعية: ген IDH2, глиобластома, астроцитома, эпендимома, первичная лимфома, герминома, медуллобластома, олигодендроглиома, пинеобластома, метилирование, химиотерапия, лучевая терапия, ген МGMT, ко-делеция 1p/19q, ген IDH1

وصف الملف: application/pdf

Relation: https://www.malignanttumors.org/jour/article/view/1027/724; https://www.malignanttumors.org/jour/article/view/1027

الاتاحة: https://www.malignanttumors.org/jour/article/view/1027
https://doi.org/10.18027/2224-5057-2022-12-3s2-113-140

المؤلفون: M. Minzhenkova E., Z. Markova G., I. Anisimova V., I. Kanivetc V., N. Shilova V., М. Миньженкова Е., Ж. Маркова Г., И. Анисимова В., И. Канивец В., Н. Шилова В.

المصدر: Medical Genetics; Том 20, № 4 (2021); 49-56 ; Медицинская генетика; Том 20, № 4 (2021); 49-56 ; 2073-7998

مصطلحات موضوعية: cryptic genomic imbalance, abnormal phenotype, deletion 8q22 2q22 3, chromosomal microarray, CNV, скрытый геномный дисбаланс, аномальный фенотип, делеция 8q22 2q22 3, хромосомный микроматричный анализ

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/1906/1486; De Gregori M, Ciccone R, Magini P, et al. Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet. 2007;44:750-762.; Higgins A.W. et al. Characterization of apparently balanced chromosomal rearrangements from the Developmental Genome Anatomy Project. Am J Hum Genet. 2008;82:712-722.; Schluth-Bolard С, Delobel B, Damien S et al. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated. Eur J Med Genet. 2009;52:291-296.; Миньженкова М.Е., Маркова Ж.Г., Гусева Д.М. и др. Характеристика геномного дисбаланса у пациентов со сбалансированными хромосомными перестройками и аномалиями развития. Медицинская генетика. 2020; 19(9):18-24.; Kuechler A., et al. Five patients with novel overlapping interstitial deletion in 8q22.2-q22.3. Am. J. Med. Genet. 2011; Part A 155:1857-1864.; Kuroda Y., et al. Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy. Am. J. Med. Genet. 2014;Part A: 9999, 1-5.; Sinajon P., Gofine T., Ingram J., So J. Microdeletion 8q22.2-q22.3 in a 40-year-old male. Eu J Med Genet. 2015;58(11):569-572.; Rincon A., Paez-Rojas P. and Suárez-Obando F. 8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy. Case Reports in Genetics. 2019;1-6.; Marcinkute R., Brazdziunaite D.,Burokiene N. et al. A de novo 8q22.2q22.3 interstitial microdeletion in a girl with developmental delay and congenital defects. Eu J Med Genet. 2015;58(11): E-P11.08:977.; Busche A., Tuttelmann F., et al. Clinical and molecular characterization of a novel patient with a 8q22.2q22.3 microdeletion. German society of human genetics 2017 meeting.2017; P-CytoG-127:125.; Venegas-Vega C., Guardado M., Juarez E. et al. Clinical and molecular delineation of the emerging 8q22.3 microdeletion syndrome. Eu J Med Genet. 2014;22(1): P08.07-S:149.; Paez P., Perdomo S., Rojas X. A first reported case of a microdeletion in 8q22.22q23 in Colombia. Phenotypic and genotyping correlation. Clinical genetics and dysmorphology. 2012;3115W.; Swisshelm K., Toomey S., LeRoux J. et al. Co-existence of a complex, three-way translocation with a 4.6 Mb deletion in 8q22.3-8q23.1. American Society of Human Genetics 2016 Annual Meeting. 2016;867F:338.; Vlaskamp D.R.M., Callenbach P.M.C., Rump P. et al. Copy number variation in a hospital-based cohort of children with epilepsy. Epilepsia Open. 2017;2(2):244-254.; Chen C.-P., Chang T.-Y., Hung F.-Y. et al. Prenatal diagnosis of an 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction on fetal ultrasound. Taiwanese Journal of Obstetrics & Gynecology. 2017;56:843-846.; Douzgou S., Petersen M. B. Clinical variability of genetic isolates of Cohen syndrome. Clinical Genetics. 2011;79(6):501-506.; Wang W,Zhou Z, Zhao W, Huang Y,TangR, YingK,XieY,MaoY. Molecular cloning, mapping and characterization of the human neurocalcin delta gene (NCALD). Biochim Biophys Acta. 2001;1518: 162-167.; Tyynismaa H., Ylikallio E., Patel M. et al. A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. Am. J. Hum. Genet. 2009;85(2):290-295.; Kellis M. et al. Defining functional DNA elements in the human genome. Proceedings of the National Academy of Sciences: journal. 2014;111(17):6131-6138.; https://www.medgen-journal.ru/jour/article/view/1906

الاتاحة: https://www.medgen-journal.ru/jour/article/view/1906
https://doi.org/10.25557/2073-7998.2021.04.49-56

المؤلفون: M. Minzhenkova E., Z. Markova G., A. Murtazina F., N. Shilova V., М. Миньженкова Е., Ж. Маркова Г., А. Муртазина Ф., Н. Шилова В.

المصدر: Medical Genetics; Том 20, № 10 (2021); 40-43 ; Медицинская генетика; Том 20, № 10 (2021); 40-43 ; 2073-7998

مصطلحات موضوعية: deletion 6q14 1, CMA, СNV, balanced translocation, PHIP gene, делеция 6q14 1, ХМА, CNV, сбалансированная транслокация, ген PHIP

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/1986/1523; ISCN 2020. An International System for Human Cytogenomic Nomenclature (2020) Editor(s): McGowan-Jordan J., Hastings R. J., Moore S., Karger. 2020; 503. Reprint of: Cytogenetic and Genome Research 2020; 160(7-8).; Van Esch H., Rosser E.M. et al. Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14. J Med Genet. 2010; 47: 717-720.; Lespinasse J., Gimelli S. et al. Characterization of an interstitial deletion 6q13- q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms. Eur J Med Genet. 2009; 52: 49-52.; Becker K., Di Donato N., et al. De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability-further delineation of the 6q14 microdeletion syndrome and review of the literature. Eur J Med Genet. 2012; 55: 490-497.; Webster E., Cho M.T., Alexander N., et al. De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features. Cold Spring Harb Mol Case Stud. 2016; 2(6): a001172.; Jansen S., Hoischen A., et al: A genotype-first approach identifies an intellectual disabilityoverweight syndrome caused by PHIP haploinsufficiency. Eur J Hum Genet. 2018; 26: 54-63.; https://www.medgen-journal.ru/jour/article/view/1986

الاتاحة: https://www.medgen-journal.ru/jour/article/view/1986
https://doi.org/10.25557/2073-7998.2021.10.40-43

المؤلفون: N. Polyakova A., E. Voskoboeva Yu., I. Kanivets V., S. Korostelev A., V. Kakaulina S., N. Pechatnikova L., Н. Полякова А., Е. Воскобоева Ю., И. Канивец В., С. Коростелев А., В. Какаулина С., Н. Печатникова Л.

المصدر: Medical Genetics; Том 18, № 1 (2019); 45-50 ; Медицинская генетика; Том 18, № 1 (2019); 45-50 ; 2073-7998

مصطلحات موضوعية: Синдром Хантера, мукополисахаридоз II типа, X хромосома, делеция, наследственные синдромы, умственная отсталость, «сопряженные» генные синдромы, Hunter syndrome, mucopolysaccharidosis type II, X chromosome, deletion, hereditary syndromes, mental retardation, contigious gene syndrome

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/625/401; Tuschl K, Gal A, Paschke E, et al. Mucopolysaccharidosis type II in females: case report and review of literature. Pediatr Neurol. 2005 Apr;32(4):270-272.; Hunter CA. A rare disease in two brothers. Proc R Soc Med. 1917;10:104-116.; Froissart R, Da Silva IM, Maire I. Mucopolysaccharidosis type II: an update on mutation spectrum. Acta Paediatr Suppl. 2007;96:71-77.; Timms KM, Bondeson ML, Ansari-Lari MA, et al. Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet. 1997;6:479-486.; Karsten S, Voskoboeva E, Tishkanina S, et al. Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients. Hum Genet. 1998 Dec;103(6):732-735.; Corzo D, Gibson W, Johnson K et al. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. Am J Hum Genet. 2002;70:1520-1531.; Osaka H, Takagi A, Tsuyusaki Y, et al. Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensoneural deafness; Mol Genet Metab. 2012 May;106(1):43-47.; Francke U, Ochs HD, de Martinville B et al. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet. 1985;37: 250-267.; Gedeon AK, Keinanen M, Ades LC, et al. Overlapping submicroscopic deletion in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE. Am. J. Hum. 1995 Apr;56(4):907-914.; Voznyi YV, Keulemans JLM, van Diggelen OP. A fluorogenic assay for the diagnosis of Hunter disease (MPSII) J Inher Metab Dis. 2001; 24: 675-680.; Blau N, Duran M, Gibson KM. Laboratory Guide to the Methods in Biochemical Genetics Springer 2008.; Kearney H, Thorland E, Brown K et al., American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med. 2011;13:680-685.; Wraith JE, Scarpa M, Beck M, et al. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr. 2008 Mar;167(3):267-277.; Martin R, Beck M, Eng C, et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics. 2008 Feb;121(2):e377-386.; Brusius-Facchin AC, De Souza CF, Schwartz IV, et al. Severe phenotype in MPS II patients associated with a large deletion including contiguous genes. Am J Med Genet A. 2012;158A:1055-1059.; Burruss DM, Wood TC, Espinoza L et al. Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2) J Child Neurol. 2012;27:786-790.; Probst FJ, Roeder ER, Enciso VB, et al. Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A. 2007;143A:1358-1365.; Honda S, Hayashi S, Kato M, et al. Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene. Am J Med Genet A. 2007;143:687-693.; Wraith JE, Cooper A, Thornley M, et al. The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II-Hunter syndrome). Hum Genet. 1991;87:205-206.; Ballenger CE, Swift TR, Leshner RT et al. Myelopathy in mucopolysaccharidosis type II (Hunter syndrome). Ann Neurol. 1980 Apr;7(4):382-385.; https://www.medgen-journal.ru/jour/article/view/625

الاتاحة: https://www.medgen-journal.ru/jour/article/view/625

المؤلفون: A. Kashevarova A., E. Belyaeva O., A. Nikonov M., O. Plotnikova V., I. Gergert G., T. Nikitina V., N. Skryabin A., S. Vasilyev A., M. Lopatkina E., A. Churilova V., E. Tolmacheva N., L. Nazarenko P., I. Lebedev N., А. Кашеварова А., Е. Беляева О., А. Никонов М., О. Плотникова В., И. Гергерт Г., Т. Никитина В., Н. Скрябин А., С. Васильев А., М. Лопаткина Е., А. Чурилова В., Е. Толмачева Н., Л. Назаренко П., И. Лебедев Н.

المصدر: Medical Genetics; Том 16, № 11 (2017); 46-50 ; Медицинская генетика; Том 16, № 11 (2017); 46-50 ; 2073-7998

مصطلحات موضوعية: метафазный анализ, флюресцентная in situ гибридизация (FISH), матричная сравнительная геномная гибридизация (aCGH), кольцевая хромосома, моносомия, делеция, трипликация, metaphase analysis, fluorescent in situ hybridization (FISH), array comparative genomic hybridization (aCGH), ring chromosome, monosomy, deletion, triplication

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/348/264; Протокол aCGH для микрочипов Agilent Technologies - http://www.chem-agilent.com/pdf/G4410-90020v3_1_CGH_ULS_Protocol.pdf; База данных геномных вариантов - http://projects.tcag.ca/variation/?source=hg18; База о генах - https://www.ncbi.nlm.nih.gov/gene; Xu F, DiAdamo AJ, Grommisch B, Li P. Interstitial duplication and distal deletion in a ring chromosome 13 with pulmonary atresia and ventricular septal defect: a case report and review of literature. N A J Med Sci. 2013; 6(4):208-212.; Brandt CA, Hertz JM, Petersen MB et al. Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q. J Med Genet. 1992; 29:704-708.; Izykowska K, Przybylski GK, Gand C et al. Genetic rearrangements result in altered gene expression and novel fusion transcripts in Sezary syndrome. Oncotarget. 2017; 8(24):39627-39639.; https://www.medgen-journal.ru/jour/article/view/348

الاتاحة: https://www.medgen-journal.ru/jour/article/view/348

المؤلفون: Деганд Кристина Владимировна, Kristina V. Degand, Тютюнникова Евгения Борисовна, Evgeniia B. Tiutiunnikova

المصدر: Priority directions of science and education development; № 4; 12-13 ; Приоритетные направления развития образования и науки; № 4; 12-13

مصطلحات موضوعية: инверсия, ДНК, мутации, делеция, РНК, хромосомные мутации, генные мутации, геномные мутации, аллели, дупликация, гетерозигота, полиплоидия

وصف الملف: text/html

Relation: info:eu-repo/semantics/altIdentifier/isbn/978-5-6040397-8-6; https://interactive-plus.ru/e-articles/532/Action532-467882.pdf; https://interactive-plus.ru/files/Books/Cover-452.jpg?req=467882; https://interactive-plus.ru/article/467882/discussion_platform

الاتاحة: https://interactive-plus.ru/files/Books/Cover-452.jpg?req=467882
https://interactive-plus.ru/article/467882/discussion_platform

المصدر: Ukrainian Neurosurgical Journal; Vol. 28 No. 3 (2022); 3-8
Ukrainian Neurosurgical Journal; Том 28 № 3 (2022); 3-8

مصطلحات موضوعية: molecular markers, MGMT status, MGMT статус, malignant gliomas of the brain, 1p/19q co-deletion, temozolomide, PCV polychemotherapy regimen, бевацизумаб, bevacizumab, мутація гена IDH, ко-делеция 1p/19q, chemotherapy, злокачественные глиомы головного мозга, схема полихимиотерапии PCV, IDH-mutation, молекулярные маркеры, темозоломид, темозоломід, химиотерапия, ко-делеція 1p/19q, схема поліхіміотерапії PCV, хіміотерапія, молекулярні маркери, злоякісні гліоми головного мозку

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=scientific_p::2ecb35c5d674e1d7903b4a3e9e32f641
http://theunj.org/article/view/258545

المؤلفون: E. Alekseeva A., A. Thanas S., E. Prozorenko V., A. Zaytsev M., M. Kurzhupov I., O. Kirsanova N., V. Rudenko V., D. Zaletaev V., V. Strelnikov V., Е. Алексеева А., А. Танас С., Е. Прозоренко В., А. Зайцев М., М. Куржупов И., О. Кирсанова Н., В. Руденко В., Д. Залетаев В., В. Стрельников В.

المصدر: Medical Genetics; Том 15, № 12 (2016); 14-22 ; Медицинская генетика; Том 15, № 12 (2016); 14-22 ; 2073-7998

مصطلحات موضوعية: глиобластома, потеря гетерозиготности, делеция, однородительская дисомия, glioblastoma, loss of heterozygosity, deletion, acquired uniparental disomy

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/191/168; Dunn GP, Rinne ML, Wykosky J et al. Emerging insights into the molecular and cellular basis of glioblastoma. Genes Dev. 2012;26(8):756-784.; Hutter A. Overview of Primary Brain Tumors: Pathologic Classification, Epidemiology, Molecular Biology, and Prognostic Markers. Hematol Oncol Clin North Am. 2012 Aug;26(4):715-732.; Jesionek-Kupnicka D, Szybka M, Potemski P et al. Association of loss of heterozygosity with shorter survival in primary glioblastoma patients. Pol J Pathol. 2013 Dec;64(4):168-275.; Mizoguchi M, Kuga D, Guan Y et al. Loss of heterozygosity analysis in malignant gliomas. Brain Tumor Pathol. 2011 Jul; 28(3):191-196.; Ohgaki H, Kleihues P. Genetic Pathways to Primary and Secondary Glioblastoma. Am J Pathol. 2007 May;170(5):1445-1453.; Balesaria S, Brock C, Bower M et al. Loss of chromosome 10 is an independent prognostic factor in high-grade gliomas. Br J Cancer. 1999 Dec;81(8):1371-1377.; Tada K, Shiraishi S, Kamiryo T. Analysis of loss of heterozygosity on chromosome 10 in patients with malignant astrocytic tumors: Correlation with patients age and survival. J. Neuroserg. 2001 Oct;95(4):651-659.; Crespo I, Tao H, Nieto AB et al. Amplified and Homozygously Deleted Genes in Glioblastoma: Impact on Gene Expression Levels. PLoS One. 2012 Sep;7(9):e46088.; Heroux MS, Chesnik MA, Halligan BD et al. Comprehensive characterization of glioblastoma tumor tissues for biomarker identification using mass spectrometry-based label-free quantitative proteomics. Physiol Genomics. 2014 Jul 1;46(13):467-481.; Gupta K, Salunke P. Molecular markers of glioma: an update on recent progress and perspectives. J Cancer Res Clin Oncol. 2012 Dec;138(12):1971-1981.; Yang Y., Shao N, Luo G et al. Mutations of PTEN Gene in Gliomas Correlate to Tumor Differentiation and Short-term Survival Rate. Anticancer Res. 2010 Mar;30(3):P. 981-985.; Katoh M, Nakagama H. FGF Receptors: Cancer Biology and Therapeutics // Med Res Rev. 2014 Mar;34(2):280-300.; Nakahara Y, Shiraishi T, Okamoto H et al. Detrended fluctuation analysis of genome-wide copy number profiles of glioblastomas using array-based comparative genomic hybridization. Neuro-Oncology. 2004 Oct;6(4):281-289.; Ader I, Delmas C, Skuli N et al. Preclinical evidence that SSR128129E - A novel small-molecule multi-fibroblast growth factor receptor blocker - Radiosensitises human glioblastoma. Eur J Cancer. 2014 Sep;50(13):2351-2359.; Arshad H, Ahmad Z, Hasan SH. Gliomas: correlation of histologic grade, Ki67 and p53 expression with patient survival. Asian Pac J Cancer Prev. 2010;11(6):1637-1640.; Hegi ME, Liu L, Herman JG et al. Correlation of O6-Methylguanine Methyltransferase (MGMT) Promoter Methylation With Clinical Outcomes in Glioblastoma and Clinical Strategies to Modulate MGMT Activity. J Clin Oncol. 2008 Sep 1;26(25):4189-4199.; Стрельников ВВ, Малышева АС, Шубина МВ и др. Делеции области расположения гена MGMT на хромосоме 10q26.3. Молекулярная медицина. 2011;(2):28-31.; Ginzinger DG, Godfrey TE, Nigro J et al. Measurement of DNA Copy Number at Microsatellite Loci Using Quantitative PCR Analysis. Cancer Res. 2000 Oct;60(19):5405-5409.; Nigro JM, Takahashi MA, Ginzinger DG et al. Detection of 1p and 19q Loss in Oligodendroglioma by Quantitative Microsatellite Analysis, a Real-Time Quantitative Polymerase Chain Reaction Assay. Am J Pathol. 2001 Apr;158(4):1253-1262.; Алексеева Е.А., Танас А.С., Прозоренко Е.В. и др. Анализ аллельного дисбаланса при глиобластоме: новые хромосомные участки потери гетерозиготности и новые гены-кандидаты. Медицинская генетика. 2014;(11):41-46.; Knudson AG. Mutation and cancer: statistical study of retinoblastoma. Proc. Natl. Acad. Sci. USA. 1971 Apr.;68(4): 820-823.; Yin D, Ogawa S, Kawamata N et al. High Resolution Genomic Copy Number Profiling of Glioblastoma Multiforme by Single Nucleotide Polymorphism DNA Microarray.Mol. Cancer Res. 2009 May; 7(5): 665-677.; https://www.medgen-journal.ru/jour/article/view/191

الاتاحة: https://www.medgen-journal.ru/jour/article/view/191

المؤلفون: Сыреева Валентина Дмитриевна, Valentina D. Syreeva, Тютюнникова Евгения Борисовна, Evgeniia B. Tiutiunnikova

المصدر: Scientific studies: theory, methodology and practice; № 3; 66-67 ; Научные исследования: теория, методика и практика; № 3; 66-67

مصطلحات موضوعية: хромосомы, синдром Вильямса, делеция, гиперкальциемия, спонтанная мутация, стеноз аорты, адентия

وصف الملف: text/html

Relation: info:eu-repo/semantics/altIdentifier/isbn/ 978-5-6040208-6-9; https://interactive-plus.ru/e-articles/437/Action437-465874.pdf; Мастюкова Е.М. Основы генетики. Клинико-генетические основы коррекционной педагогики и специальной психологии: Учебное пособие для вузов / Е.М. Мастюкова, А.Г. Московкина. – М.: Владос, 2001.; Синдром Уильямса или ребенок с лицом Эльфа [Электронный ресурс]. – Режим доступа: http://prodepressiju.ru/narusheniya-intellekta/sindrom-uilyamsa.html; https://interactive-plus.ru/files/Books/Cover-437.jpg?req=465874; https://interactive-plus.ru/article/465874/discussion_platform

الاتاحة: https://interactive-plus.ru/files/Books/Cover-437.jpg?req=465874
https://interactive-plus.ru/article/465874/discussion_platform

المؤلفون: E. Yu. Shchelkanova, E. Yu. Agafonova, L. F. Livanova, D. A. Agafonov, Yu. V. Lozovsky, N. I. Smirnova, Е. Ю. Щелканова, Е. Ю. Агафонова, Л. Ф. Ливанова, Д. А. Агафонов, Ю. В. Лозовский, Н. И. Смирнова

المصدر: Problems of Particularly Dangerous Infections; № 2 (2017); 54-57 ; Проблемы особо опасных инфекций; № 2 (2017); 54-57 ; 2658-719X ; 0370-1069 ; 10.21055/0370-1069-2017-2

مصطلحات موضوعية: фенотипические свойства, CTXφ prophage, deletion, phenotypic properties, профаг CTXφ, делеция

وصف الملف: application/pdf

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الاتاحة: https://journal.microbe.ru/jour/article/view/392
https://doi.org/10.21055/0370-1069-2017-2-54-57