المؤلفون: E. V. Bychkova, N. A. Semenova, G. B. Sagoyan, R. A. Khagurov, D. M. Guseva, I. V. Volodin, A. S. Smirnov, V. V. Strelnikov, Е. В. Бычкова, Н. А. Семенова, Г. Б. Сагоян, Р. А. Хагуров, Д. М. Гусева, И. В. Володин, А. С. Смирнов, В. В. Стрельников

المساهمون: The study was conducted with the financial support of Novartis Pharma., Исследование проведено при финансовой поддержке ООО Новартис Фарма

المصدر: Medical Genetics; Том 23, № 7 (2024); 24-32 ; Медицинская генетика; Том 23, № 7 (2024); 24-32 ; 2073-7998

مصطلحات موضوعية: сосудистые мальформации, PIK3CA, segmental overgrowth, vascular malformations, парциальный гигантизм

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/2506/1803; Keppler-Noreuil K.M., Rios J.J., Parker V.E., et al. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015;167A(2):287-295. doi:10.1002/ajmg.a.36836; Thorpe L.M., Yuzugullu H., Zhao J.J. PI3K in cancer: divergent roles of isoforms, modes of activation and therapeutic targeting. Nat Rev Cancer. 2015;15(1):7-24. doi:10.1038/nrc3860; Kuentz P., St-Onge J., Duffourd Y., et al. Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing. Genet Med. 2017;19(9):989997. doi:10.1038/gim.2016.220; Mirzaa G., Timms A.E., Conti V., et al. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight. 2016;1(9):e87623. doi:10.1172/jci.insight.87623; Faivre L., Crépin J.C., Réda M., et al. Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations. Clin Genet. 2023;104(5):554-563. doi:10.1111/cge.14410; Cooley Coleman J.A., Gass J.M., Srikanth S., et al. Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders. Hum Mol Genet. 2023;32(9):1457-1465. doi:10.1093/hmg/ddac296; De Graer C., Marangoni M., Romnée S., et al. Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. Eur J Med Genet. 2020;63(4):103775. doi:10.1016/j.ejmg.2019.103775; Canaud G., Hammill A.M., Adams D., et al. A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations. Orphanet J Rare Dis. 2021;16(1):306. Published 2021 Jul 8. doi:10.1186/s13023-021-01929-8; Queisser A., Seront E., Boon L.M., Vikkula M. Genetic Basis and Therapies for Vascular Anomalies. Circ Res. 2021;129(1):155-173. doi:10.1161/CIRCRESAHA.121.318145; Nathan N., Keppler-Noreuil K.M., Biesecker L.G., et al. Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway. Dermatol Clin. 2017;35(1):51-60. doi:10.1016/j.det.2016.07.001; Gazzin A., Leoni C., Viscogliosi G., et al. Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association. Genes (Basel). 2023;14(12):2134. doi:10.3390/genes14122134; Do H., Dobrovic A. Dramatic reduction of sequence artefacts from DNA isolated from formalin-fixed cancer biopsies by treatment with uracil-DNA glycosylase. Oncotarget. 2012;3(5):546-558. doi:10.18632/oncotarget.503; Sater V., Viailly P.J., Lecroq T., et al. UMI-Gen: A UMI-based read simulator for variant calling evaluation in paired-end sequencing NGS libraries. Comput Struct Biotechnol J. 2020;18:2270-2280. Published 2020 Aug 27. doi:10.1016/j.csbj.2020.08.011; McNulty S., Evenson M., Corliss M., et al. Diagnostic utility of next-generation sequencing for disorders of somatic mosaicism: a five-year cumulative cohort. Am J Hum Genet. 2019;105(4):734-746. doi:10.1016/j.ajhg.2019.09.002; Hucthagowder V., Shenoy A., Corliss M., et al. Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum. Clin Genet. 2017;91(1):79-85. doi:10.1111/cge.12819; Mussa A., Leoni C., Iacoviello M., et al. Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. J Med Genet. 2023;60(2):163-173. doi:10.1136/jmedgenet-2021-108093; Piacitelli A.M., Jensen D.M., Brandling-Bennett H., et al. Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients. Am J Med Genet A. 2018;176(11):23012308. doi:10.1002/ajmg.a.40487; Baker C.L., Vaughn C.P., Samowitz W.S. A PIK3CA pyrosequencing-based assay that excludes pseudogene interference. J Mol Diagn. 2012;14(1):56-60. doi:10.1016/j.jmoldx.2011.08.004; Douzgou S., Rawson M., Baselga E., et al. A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement. Clin Genet. 2022;101(1):32-47. doi:10.1111/cge.14027; Сагоян Г.Б., Клецкая И.С., Имянитов Е.Н. и др. Спектр синдромов избыточного роста, связанных с мутацией PIK3CA. Обзор литературы. Российский журнал детской гематологии и онкологии. 2022;9(1):29-44. https://doi.org/10.21682/2311-1267-2022-9-1-29-44; https://hgvs-nomenclature.org; Madsen R.R., Vanhaesebroeck B., Semple R.K. Cancer-Associated PIK3CA Mutations in Overgrowth Disorders. Trends Mol Med. 2018;24(10):856-870. doi:10.1016/j.molmed.2018.08.003

الاتاحة: https://www.medgen-journal.ru/jour/article/view/2506
https://doi.org/10.25557/2073-7998.2024.07.24-32

المؤلفون: Natalia A. Averkina, Madlena E. Bagaeva, Aleksander A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Olga S. Gundobina, Nataliya V. Zhurkova, Elena V. Kaitukova, Elena V. Komarova, Tea V. Margieva, Leyla S. Namazova-Baranova, Valeria P. Novikova, Elena E. Petryaykina, Mariya M. Platonova, Aleksander S. Potapov, Olga Ya. Smirnova, Tatiana V. Strokova, Andrey N. Surkov, Nataliya N. Taran, Marina V. Fedoseenko, Nataliya A. Semenova, Inga V. Anisimova, Svetlana A. Repina, Dmitriy M. Subbotin, Valeria V. Sviridova, Anatoliy I. Havkin, Ekaterina A. Yablokova, Galina V. Volynets, Irina V. Sadovnikova, Elena L. Tumanova, Н. А. Аверкина, М. Э. Багаева, А. А. Баранов, Н. Д. Вашакмадзе, Е. А. Вишнева, О. С. Гундобина, Н. В. Журкова, Е. В. Кайтукова, Е. В. Комарова, Т. В. Маргиева, Л. С. Намазова-Баранова, В. П. Новикова, Е. Е. Петряйкина, М. М. Платонова, А. С. Потапов, О. Я. Смирнова, Т. В. Строкова, А. Н. Сурков, Н. Н. Таран, М. В. Федосеенко, Н. А. Семёнова, И. В. Анисимова, С. А. Репина, Д. М. Субботин, В. В. Свиридова, А. И. Хавкин, Е. А. Яблокова, Г. В. Волынец, И. В. Садовникова, Е. Л. Туманова

المساهمون: Not specified., Отсутствует

المصدر: Pediatric pharmacology; Том 21, № 3 (2024); 263-288 ; Педиатрическая фармакология; Том 21, № 3 (2024); 263-288 ; 2500-3089 ; 1727-5776

مصطلحات موضوعية: дети, glycogen-storage disease, glycogenosis, clinical guidelines, children, болезни накопления гликогена, гликогеноз, клинические рекомендации

وصف الملف: application/pdf

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الاتاحة: https://www.pedpharma.ru/jour/article/view/2467
https://doi.org/10.15690/pf.v21i3.2765

المؤلفون: G. B. Sagoyan, N. V. Zhukov, V. V. Strelnikov, R. A. Khagurov, A. M. Suleymanova, Yu. M. Mareeva, R. V. Garbuzov, E. N. Imyanitov, Yu. V. Dinikina, S. I. Kutsev, E. K. Donyush, K. I. Kirgizov, N. A. Semenova, Yu. A. Polyaev, I. S. Kletskaya, A. A. Maschan, S. R. Varfolomeeva, Г. Б. Сагоян, Н. В. Жуков, В. В. Стрельников, Р. А. Хагуров, А. М. Сулейманова, Ю. М. Мареева, Р. В. Гарбузов, Е. Н. Имянитов, Ю. В. Диникина, С. И. Куцев, Е. К. Донюш, К. И. Киргизов, Н. А. Семенова, Ю. А. Поляев, И. С. Клецкая, А. А. Масчан, С. Р. Варфоломеева

المصدر: Russian Journal of Pediatric Hematology and Oncology; Том 10, № 2 (2023); 117-130 ; Российский журнал детской гематологии и онкологии (РЖДГиО); Том 10, № 2 (2023); 117-130 ; 2413-5496 ; 2311-1267

مصطلحات موضوعية: сиролимус, PIK3CA mutation, overgrowth spectrum, CLOVES, CLAPO, Klippel–Trenaunay syndrome, macrodactyly, lipomatosis, vascular malformations, epidermal nevus, alpelisib, sirolimus, мутация PIK3CA, спектр синдромов избыточного роста, синдром Клиппеля– Треноне, макродактилия, липоматоз, сосудистые мальформации, эпидермальный невус, алпелисиб

وصف الملف: application/pdf

Relation: https://journal.nodgo.org/jour/article/view/944/831; https://journal.nodgo.org/jour/article/view/944/832; Сагоян Г.Б., Клецкая И.С., Имянитов Е.Н., Мареева Ю.М., Жуков Н.В., Хагуров Р.А., Сулейманова А.М. Спектр синдромов избыточного роста, связанных с мутацией PIK3CA. Обзор литературы. Российскийжурнал детской гематологии и онкологии. 2022;9(1):29–44. doi:10.21682/2311-1267-2022-9-1-29-44.; Canaud G., Hammill A.M., Adams D., Vikkula M., Keppler-Noreuil K.M. A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations. Orphanet J Rare Dis. 2021;16(1):306. doi:10.1186/s13023-021-01929-8.; Nunnery S.E., Mayer I.A. Targeting the PI3K/AKT/mTOR Pathway in Hormone-Positive Breast Cancer Drugs. 2020;80:1685–97. doi:10.1007/s40265-020-01394-w.; Madsen R.R., Vanhaesebroeck B., Semple R.K. Cancer-Associated PIK3CA Mutations in Overgrowth Disorders. Trends Mol Med. 2018;24(10):856–70. doi:10.1016/j.molmed.2018.08.003.; Douzgou S., Rawson M., Baselga E., Danielpour M., Faivre L., Kashanian A., Keppler-Noreuil K.M., Kuentz P., Mancini G.M.S., Maniere M.C., Martinez-Glez V., Parker V.E., Semple R.K., Srivastava S., Vabres P., De Wit M.Y., Graham J.M. Jr, Clayton-Smith J., Mirzaa G.M., Biesecker L.G. A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement. Clin Genet. 2022;101(1):32–47. doi:10.1111/cge.14027.; Mirzaa G., Graham J.M. Jr, Keppler-Noreuil K.M. PIK3CA-Related Overgrowth Spectrum. In: Adam M.P., Everman D.B., Mirzaa G.M., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023.; Keppler-Noreuil K.M., Rios J.J., Parker V.E., Semple R.K., Lindhurst M.J., Sapp J.C., Alomari A., Ezaki M., Dobyns W., Biesecker L.G. PIK3CArelated overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, diff erential diagnosis, and evaluation. Am J Med Genet A. 2015;167A(2):287–95. doi:10.1002/ajmg.a.36836.; Canaud G., López Gutiérrez J.C., Irvine A., Ankrah N., Ridolfi A., Adams D.M. LBA23 EPIK-P1: Retrospective chart review study of patients (pts) with PIK3CA-related Overgrowth Spectrum (PROS) who have received alpelisib (ALP) as part of a compassionate use programme. Dev Ther. 2021;32(Suppl 5):S1297. doi:10.1016/j.annonc.2021.08.2097.; Garreta Fontelles G., Pardo Pastor J., Grande Moreillo C. Alpelisib to treat CLOVES syndrome, a member of the PIK3CA-related overgrowth syndrome spectrum. Br J Clin Pharmacol. 2022;88(8):3891–5. doi:10.1111/bcp.15270.; Morin G., Degrugillier-Chopinet C., Vincent M., Fraissenon A., Aubert H., Chapelle C., Hoguin C., Dubos F., Catteau B., Petit F., Mezel A., Domanski O., Herbreteau G., Alesandrini M., Boddaert N., Boutry N., Broissand C., Kevin Han T., Branle F., Sarnacki S., Blanc1 T., Guibaud L., Canaud G. Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib. J Exp Med. 2022;219(3):e20212148. doi:10.1084/jem.20212148.; Madsen R.R., Semple R.K. PIK3CA-related overgrowth: silver bullets from the cancer arsenal? Trends Mol Med. 2022;28(4):255–7. doi:10.1016/j.molmed.2022.02.009.; Parker V.E.R., Keppler-Noreuil K.M., Faivre L., Luu M., Oden N.L., De Silva L., Sapp J.C., Andrews K., Bardou M., Chen K.Y., Darling T.N., Gautier E., Goldspiel B.R., Hadj-Rabia S., Harris J., Kounidas G., Kumar P., Lindhurst M.J., Loff roy R., Martin L., Phan A., Rother K.I., Widemann B.C., Wolters P.L., Coubes C., Pinson L., Willems M., Vincent-Delorme C.; PROMISE Working Group; Vabres P., Semple R.K., Biesecker L.G. Safety and efficacy of low-dose sirolimus in the PIK3CArelated overgrowth spectrum. Genet Med. 2019;21(5):1189–98. doi:10.1038/s41436-018-0297-9.; https://journal.nodgo.org/jour/article/view/944

الاتاحة: https://journal.nodgo.org/jour/article/view/944
https://doi.org/10.21682/2311-1267-2023-10-2-117-123

المؤلفون: M. E. Minzhenkova, Z. G. Markova, D. A. Yurchenko, A. A. Tarlycheva, T. V. Markova, N. A. Semenova, A. F. Murtazina, V. V. Kadyshev, M. M. Gridina, E. . Viesná, V. S. Fishman, N. V. Shilova, М. Е. Миньженкова, Ж. Г. Маркова, Д. А. Юрченко, А. А. Тарлычева, Т. В. Маркова, Н. А. Семенова, А. Ф. Муртазина, В. В. Кадышев, М. М. Гридина, Э. . Весна, В. С. Фишман, Н. В. Шилова

المصدر: Medical Genetics; Том 21, № 11 (2022); 44-47 ; Медицинская генетика; Том 21, № 11 (2022); 44-47 ; 2073-7998

مصطلحات موضوعية: Hi-C, CMA, FISH, CNV, TAD, ХМА, ТАД

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/2198/1663; Schluth-Bolard C., Delobel B., Sanlaville D., et al. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases. Eur J Med Genet. 2009;52(5):291-296.; Zhang F., Carvalho C.M., Lupski J.R.Complex human chromosomal and genomic rearrangements. Trends Genet. 2009;25(7):298-307. doi:10.1016/j.tig.2009.05.005; Gridina M., Mozheiko E., Valeev E., Nazarenko L.P., Lopatkina M.E., Markova Z.G., Yablonskaya M.I., Voinova V.Y., Shilova N.V., Lebedev I.N., Fishman V. A cookbook for DNase Hi-C. Epigenetics Chromatin. 2021 Mar 20;14(1):15. doi:10.1186/s13072-021-00389-5.; Feenstra I., Hanemaaijer N., Sikkema-Raddatz B., et al. Balanced into array: Genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a metaanalysis. Eur J Hum Genet. 2011;(19):1152-1160.; 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.; Lupia´n˜ez D.G., Kraft K., Heinrich V. et al. Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. Cell. 2015;161:1012-1025.; Aristidou K. et al., Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases. PLoS ONE. 2018;13:10. https://doi.org/10.1371/journal.pone.0205298; https://www.medgen-journal.ru/jour/article/view/2198

الاتاحة: https://www.medgen-journal.ru/jour/article/view/2198
https://doi.org/10.25557/2073-7998.2022.11.44-47

المؤلفون: T. V. Markova, V. M. Kenis, E. V. Melchenko, P. V. Ochirova, T. S. Nagornova, P. N. Tsabai, D. V. Osipova, N. A. Semenova, L. A. Bessonova, N. A. Demina, E. Y. Zakharova, E. L. Dadali, Т. В. Маркова, В. М. Кенис, Е. В. Мельченко, П. В. Очирова, Т. С. Нагорнова, П. Н. Цабай, Д. В. Осипова, Н. А. Семенова, Л. А. Бессонова, Н. А. Демина, Е. Ю. Захарова, Е. Л. Дадали

المصدر: Medical Genetics; Том 21, № 4 (2022); 25-37 ; Медицинская генетика; Том 21, № 4 (2022); 25-37 ; 2073-7998

مصطلحات موضوعية: метатропная дисплазия, TRPV4 gene, exome sequencing, major mutations, spondylometaphyseal dysplasia, metatropic dysplasia, Kozlowski type, ген TRPV4, секвенирование экзома, мажорные мутации, спондилометафизарная дисплазия Козловского

وصف الملف: application/pdf

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الاتاحة: https://www.medgen-journal.ru/jour/article/view/2051
https://doi.org/10.25557/2073-7998.2022.04.25-37

المؤلفون: A. N. Makarenko, L. G. Smyshlyaeva, I. V. Volchkova, S. I. Pozdeeva, S. I. Semenova, А. Н. Макаренко, Л. Г. Смышляева, И. В. Волчкова, С. И. Поздеева, Н. А. Семенова

المصدر: Vysshee Obrazovanie v Rossii = Higher Education in Russia; Том 30, № 10 (2021); 129-136 ; Высшее образование в России (Vysshee obrazovanie v Rossii = Higher Education in Russia); Том 30, № 10 (2021); 129-136 ; 2072-0459 ; 0869-3617

مصطلحات موضوعية: педагогические инновации, pedagogical education, pedagogical innovations, педагогический университет, общепрофессиональные компетенции

وصف الملف: application/pdf

Relation: https://vovr.elpub.ru/jour/article/view/3035/1725; Richter E., Brunner M., Richter D. Teacher educators’ task perception and its relationship to professional identity and teaching practice // Teaching and Teacher Education. 2021. Vol. 101. Article no. 103303. DOI: https://doi.org/10.1016/j.tate.2021.103303; Philip T.M., Souto-Manning M., Anderson L., Horn I., Carter Andrews D.J., Stillman J., Varghese M. Making Justice Peripheral by Constructing Practice as “Core”: How the Increasing Prominence of Core Practices Challenges Teacher Education // Journal of Teacher Education. 2019. Vol. 70 (3). Р. 251–264. DOI: https://doi.org/10.1177/0022487118798324; Burns A. Innovating Teacher Development: Transformative Teacher Education Through Classroom Inquiry // Innovative Practices in Language Teacher Education. 2017. Vol. 30. Р. 187–203. DOI: https://doi.org/10.1007/978-3-319-51789-6_9; Мелик-Гайказян И.В., Мелик-Гайказян М.В. Минерва и Янус: символы поклонения визуальным эффектам современного образования // ΠΡΑΞΗMΑ. Проблемы визуальной семиотики. 2019. № 4. С. 172–193. DOI:10.23951/2312-7899-2019-4-172-193; Sirotkina N.I. Against Epistemological Hierarchies: On the Value of Forming Bodily Knowledge // Education & Pedagogy journal. 2021. Vol. 1. Р. 5–20. DOI:10.23951/2782-2575-2021-1-5-20; Князева Е.Н. Визуальные образы на службе когнитивной науки // ΠΡΑΞΗMΑ. Проблемы визуальной семиотики. 2020. № 1. С. 58–75. DOI:10.23951/2312-7899-2020-1-58-75; Симян Т.С. Интерьерное и экстерьерное пространство Ереванского государственного университета: опыт семиотического описания // ΠΡΑΞΗMΑ. Проблемы визуальной семиотики. 2020. №. 1. С. 104–120. DOI:10.23951/2312-7899-2020-1-104-120; Щебланова В.В., Логинова Л.В., Суркова И.Ю. Дискурсы городского сообщества Интернет-мемов: между конструктивной и деструктивной гражданской активностью молодёжи // ΠΡΑΞΗMΑ. Проблемы визуальной семиотики. 2020. № 3. С. 136–155. DOI:10.23951/2312-7899-2020-3-136-155; Forteza Fernandez R.F., Rubtsova E.V., Forteza Rojas S.A. Content edulcoration as ideology visualization in an English language coursebook // ΠΡΑΞΗMΑ. Journal of Visual Semiotics. 2020. No. 4. pp. 172–193. DOI:10.23951/2312-7899-2020-4-172-193; Ермолова А. И. Городское публичное пространство детства: границы и сети (на примере одной детской площадки Томска) // ΠΡΑΞΗMΑ. Проблемы визуальной семиотики. 2019. № 2. С. 177–192. DOI:10.23951/2312-7899-2019-2-177-192; Горбулева М.С., Мелик-Гайказян И.В., Первушина Н.А. Инициативы педагогической биоэтики // Высшее образование в России. 2020. Т. 29. № 6. С. 122–128. DOI:10.31992/0869-3617-2021-29-6-122-128; Яковлева А.Ф., Селезнева А.В., Емельянова Н.Н. Образ науки в представлениях молодых учёных: социокультурные измерения // ΠΡΑΞΗMΑ. Проблемы визуальной семиотики. 2020. № 4. С. 194–213.; https://vovr.elpub.ru/jour/article/view/3035

الاتاحة: https://vovr.elpub.ru/jour/article/view/3035
https://doi.org/10.31992/0869-3617-2021-30-10-129-136

المؤلفون: N. A. Semenova, P. G. Tsygankova, E. L. Dadali, T. V. Strokova, N. N. Taran, I. A. Kuzmicheva, S. I. Kutsev, Н. А. Семенова, П. Г. Цыганкова, Е. Л. Дадали, Т. В. Строкова, Н. Н. Таран, И. А. Кузьмичева, С. И. Куцев

المصدر: Medical Genetics; Том 19, № 7 (2020); 95-96 ; Медицинская генетика; Том 19, № 7 (2020); 95-96 ; 2073-7998

مصطلحات موضوعية: ген TRMU, Liver failure, transient infantile, TRMU gene, печеночная недостаточность

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/1461/1103; https://www.medgen-journal.ru/jour/article/view/1461

الاتاحة: https://www.medgen-journal.ru/jour/article/view/1461
https://doi.org/10.25557/2073-7998.2020.07.95-96

المؤلفون: E. I. Dadali, I. A. Akimova, N. A. Semenova, D. M. Guseva, O. A. Shchagina, A. I. Chukhrova, I. V. Kanivets, S. A. Korostelev, Е. Л. Дадали, И. А. Акимова, Н. А. Семенова, Д. М. Гусева, О. А. Щагина, А. Л. Чухрова, И. В. Канивец, С. А. Коростелев

المصدر: Neuromuscular Diseases; Том 9, № 2 (2019); 30-36 ; Нервно-мышечные болезни; Том 9, № 2 (2019); 30-36 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2019-9-2

مصطلحات موضوعية: магнитно-резонансная томография, tsenopathy, magnetic resonance imaging, тсенопатии

وصف الملف: application/pdf

Relation: https://nmb.abvpress.ru/jour/article/view/324/237; Namavar Y., Barth P.G., Kasher P.R. et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain 2011;134(1):143–56. DOI:10.1093/brain/awq287. PMID: 20952379.; Battini R., D’Arrigo S., Cassandrini D. et al. Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2. J Child Neurol 2014;29(4):520–5. DOI:10.1177/0883073812470002. PMID: 23307886.; Bierhals T., Korenke G.C., Uyanik G., Kutsche K. Pontocerebellar hypoplasia type 2 TSEN2: rewiew of the literature and two novel mutations. Eur J Med Genet 2013;56:325–30. DOI:10.1016/j.ejmg.2013.03.009. PMID: 23562994.; Cassandrini D., Biancheri R., Tessa A. et al. Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. Neurology 2010;75:1459–64. DOI:10.1212/WNL.0b013e3181f88173. PMID: 20956791.; Namavar Y., Barth P.G., Poll-The B.T., Baas F. Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia. Orphanet J Rare Dis 2011;6:50. DOI:10.1186/1750-1172-6-50. PMID: 21749694.; Namavar Y., Chitayat D., Barth P.G. et al. TSEN54 mutations cause pontocerebellar hypoplasia type 5. Eur J Hum Genet 2011;19(6):724–6. DOI:10.1038/ejhg.2011.8. PMID: 21368912.; Sánchez-Albisua I., Frölich S., Barth P.G. et al. Natural course of pontocerebellar hypoplasia type 2A. Orphanet J Rare Dis 2014;9(1):70. DOI:10.1186/1750-1172-9-70. PMID: 24886362.; Brun R. Zur kenntnis der bildungsfehler des kleinhirns. Epikritische bemerkungen zur entwicklungspathologie, morphologie und klinik der umschriebenen entwicklungshemmungen des neozerebellums. Schweiz. Arch Neurol Psychiatr 1917;1:48–105.; Koster S., Case I. Two cases of hypoplasia pontocerebellaris. Acta Psychiatr Scand 1926;1:47–83. DOI:10.1111/j.1600-0447.1926.tb05648.x.; Van Dijk T., Baas F., Barth P.G et al. What’s new in pontocerebellar hypoplasia? An update on genes and subtypes. Orphanet Journal of Rare Diseases 2018;13:92. DOI:10.1186/s13023-018-0826-2. PMID: 29903031.; Budde B.S., Namavar Y., Barth P.G. et al. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nature Genet 2008;40:1113–8. DOI:10.1038/ng.204.PMID: 18711368.; Paushkin S.V., Patel M., Furia B.S. et al. Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3-prime end formation. Cell 2004;117:311–21. DOI:10.1016/S0092-8674(04)00342-3. PMID: 15109492.; Donis K.C., Mattos E.P., Silva A.A. et al. Infantile spinocerebellar ataxia type 7: case report and a review of the literature. J Neurol Sci 2015;354(1–2):118–21. DOI:10.1016/j.jns.2015.04.04.; Singh A., Faruq M., Mukerji M. et al. Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases. J Child Neurol 2014;29(1):139–44. DOI:10.1177/0883073813509015. PMID: 24300164.; Feraco P., Mirabelli-Badenier M., Severino M. et al. The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a. Am J Neuroradiol 2012;33(11): 2062–7. DOI:10.3174/ajnr.A3151.; Boltshauser E., Doherty D. Cerebellar hypoplasia: differential diagnosis and diagnostic approach. Am J Med Genet Med Genet 2014;166(2):211–26. DOI:10.1002/ajmg.c.31398. PMID: 24839100.; Fry A.E., Cushion T.D., Pilz D.T. The genetics of lissencephaly. Am J Med Genet Part C Semin Med Genet 2014;166(2):198–210. DOI:10.1002/ajmg.c.31402. PMID: 24862549.; Hong S.E., Shugart Y.Y., Huang D.T. et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 2000;26(1):93–6. DOI:10.1038/79246. PMID: 10973257; https://nmb.abvpress.ru/jour/article/view/324

الاتاحة: https://nmb.abvpress.ru/jour/article/view/324
https://doi.org/10.17650/2222-8721-2019-9-2-30-36

المؤلفون: N. A. Semenova, E. L. Dadali, A. A. Sharkov, I. A. Akimova, Н. А. Семенова, Е. Л. Дадали, А. А. Шарков, И. А. Акимова

المصدر: Neuromuscular Diseases; Том 7, № 3 (2017); 36-42 ; Нервно-мышечные болезни; Том 7, № 3 (2017); 36-42 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2017-7-3

مصطلحات موضوعية: медико-генетическое консультирование, metabolic diseases, epileptic encephalopathy early infantile, chromosome syndrome, genetic counseling, болезни обмена веществ, ранняя эпилептическая энцефалопатия, хромосомный синдром

وصف الملف: application/pdf

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N Engl J Med 2012;366(12): 1132–41. DOI: 110.1056/NEJMra1012478. PMID: 22435372.; Wedatilake Y., Brown R. M., McFarland R. et al. SURF1 deficiency: a multi-centre natural history study. Orphanet J Rare Dis 2013;8:96. DOI: 110.1186/1750-1172-8-96. PMID: 23829769.; Shapira S. K., Ledley F. D., Rosenblatt D. S., Levy H. L. Ketoacidotic crisis as; a presentation of mild (“benign”) methylmalonic acidemia. J Pediatr 1991;119(1 Pt 1):80–4. DOI: 110.1016/S0022-3476(05)81045-5. PMID: 2066863.; Lu F. L., Wang P. J., Hwu W. L. et al. Neonatal type of non-ketotic hyperglycinemia. Pediatr Neurol 1999;20(4):295–300. DOI: 110.1016/S0887-8994(98)00157-X. PMID: 10328279.; Mew N. A., Simpson K. L., Gropman A. L. et al. Urea cycle disorders overview. Gene reviews. Available online. Accessed: 176 с. [Tsshoke Y., Hoffman G. Vademecum metabolicum. Diagnosis and treatment of hereditary metabolic diseases. Moscow: PRINTALLOGGI, 2013. 176 p. (In Russ.)].; Mew N. A., Simpson K. L., Gropman A. L. et al. 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Sodium channel gene family: epilepsy mutations, geneinteractions and modifier effects. J Physiol 2010;588(Pt 11):1841–8. DOI: 110.1113/jphysiol.2010.188482. PMID: 20351042.; Audenaert D., Claes L., Ceulemans B. et al. A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. Neurology 2003;61(6):854–6. DOI: 110.1212/01.wnl.0000080362. 55784.1c. PMID: 14504340.; Ryan S. G., Wiznitzer M., Hollman C. et al. Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity. Ann Neurol 1991;29(5):469–73. DOI: 110.1002/ana.410290504. PMID: 1859177.; Singh N. A., Charlier C., Stauffer D. et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 1998;18(1):25–9. DOI: 110.1038/ng0198–25. PMID: 9425895.; Archer H. L., Whatley S. D., Evans J. C. et al. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. J Med Genet 2006;43(5):451–6. 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Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum. Orphanet J Rare Dis 2011;6:39. DOI: 110.1186/1750-1172-6-39. PMID: 21668957.; Kumada T., Ito M., Miyajima T. et al. Multi-institutional study on the cor relation between chromosomal abnormalities and epilepsy. Brain Dev 2005;27(2):127–34. DOI: 110.1016/j.braindev.2003.12.010. PMID: 15668053.; Valente K. D., Freitas A., Fiore L. A., Kim C. A. A study of EEG and epilepsy profile in Wolf – Hirschhorn syndrome and considerations regarding itscorrelation with other chromosomal disorders. Brain Dev 2003;25:283–7. DOI: 110.1016/s0387-7604(02)00223-1. PMID: 12767462.; Verrotti A., Carelli A., di Genova L., Striano P. Epilepsy and chromosome 18 abnormalities. A review. Seizure 2015;32:78–83. DOI: 110.1016/j.seizure 2015.09.013. PMID: 26552569.; Sorge G., Sorge A. Epilepsy and chromo so-mal abnormalities. Ital J Pediatr 2010;36:36. DOI: 110/1186/1824-7288-36-36. 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الاتاحة: https://nmb.abvpress.ru/jour/article/view/211
https://doi.org/10.17650/2222-8721-2017-7-3-36-42

المؤلفون: N. A. Semenova, A.I. Chubarova, Н. А. Семенова, А. И. Чубарова

المصدر: Current Pediatrics; Том 11, № 4 (2012); 128-132 ; Вопросы современной педиатрии; Том 11, № 4 (2012); 128-132 ; 1682-5535 ; 1682-5527

مصطلحات موضوعية: перцентильные график, physical development, Down syndrome, percentile charts, физическое развитие, синдром Дауна

وصف الملف: application/pdf

Relation: https://vsp.spr-journal.ru/jour/article/view/466/371; Suzanne B. Cassidy, Judit E. Allanson. Management of genetic syndromes. Wiley-Blackwel. 3d ed. 2010. Р. 309–336.; Shaw C. K., Thapalial A., Nanda S., Shaw P. Thyroid dysfunction in Down syndrome. Kathmandu University Medical Journal (KUMJ). 2006; 4 (2); 182–186.; Wexler I. D., Abu-Libdeh A., Kastiel Y. et al. Optimizing health care for individuals with Down syndrome in Israe. The Israel Medical Association Journal. 2009; 11 (11): 655–659.; Шабалов Н. П. Педиатрия. С.-Пб: СпецЛит. 2003. С. 37–57.; Cronk C., Crocker A. C., Pueschel S. M. et al. Growth charts for children with Down syndrome: 1 month to 18 years of age. Pediatrics. 1988; 10: 81–102.; Fernandes A. et al. Characterization of the somatic evolution of Portuguese children with Trisomy 21 — preliminary results. Down syndrome Research and Practice. 2001. Р. 134–138.; https://vsp.spr-journal.ru/jour/article/view/466

الاتاحة: https://vsp.spr-journal.ru/jour/article/view/466
https://doi.org/10.15690/vsp.v11i4.371