المؤلفون: A. A. Dokshukina, Je. Shubina, D. N. Maslennikov, I. O. Sadelov, E. R. Tolmacheva, S. V. Ionushene, T. A. Bairova, L. V. Rychkova, D. Yu. Trofimov, D. N. Degtyarev, А. А. Докшукина, Е. Шубина, Д. Н. Масленников, И. О. Саделов, Е. Р. Толмачева, С. В. Ионушене, Т. А. Баирова, Л. В. Рычкова, Д. Ю. Трофимов, Д. Н. Дегтярев

المساهمون: Работа выполнена в рамках Соглашения с Минздравом России № 056-02-2024-214 от 15.02.2024.

المصدر: Acta Biomedica Scientifica; Том 9, № 4 (2024); 61-68 ; 2587-9596 ; 2541-9420

مصطلحات موضوعية: генетические заболевания, selective screening, whole exome sequencing, chromosomal microarray analysis, phenotype assessment, genetic diseases, селективный скрининг, полноэкзомное секвенирование, хромосомный микроматричный анализ, оценка фенотипа

وصف الملف: application/pdf

Relation: https://www.actabiomedica.ru/jour/article/view/4946/2858; Lupski JR. Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen. 2015; 56(5): 419-436. doi:10.1002/em.21943; Yuan H, Shangguan S, Li Z, Luo J, Su J, Yao R, et al. CNV profiles of Chinese pediatric patients with developmental disorders. Genet Med. 2021; 23(4): 669-678. doi:10.1038/s41436-020-01048-y; Harel T, Lupski JR. Genomic disorders 20 years on – Mechanisms for clinical manifestations. Clin Genet. 2018; 93(3): 439-449. doi:10.1111/cge.13146; 100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, et al. 100,000 genomes pilot on rare-disease diagnosis in health care – Preliminary report. N Engl J Med. 2021; 385(20): 1868-1880. doi:10.1056/NEJMoa2035790; Li YR, Glessner JT, Coe BP, Li J, Mohebnasab M, Chang X, et al. Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations. Nat Commun. 2020; 11(1): 255. doi:10.1038/s41467-019-13624-1; Gabrielaite M, Torp MH, Rasmussen MS, Andreu-Sánchez S, Vieira FG, Pedersen CB, et al. A comparison of tools for copy-number variation detection in germline whole exome and whole genome sequencing data. Cancers. 2021; 13(24): 6283. doi:10.3390/ cancers13246283; Louw N, Carstens N, Lombard Z; for DDD-Africa as members of the H3Africa Consortium. Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders – An important consideration for resource-constrained settings. Front Genet. 2023; 14: 1277784. doi:10.3389/fgene.2023.1277784; Померанцева Е.А., Докшукина А.А., Дегтярева А.В., Масленников Д.Н., Трофимов Д.Ю., Дегтярев Д.Н. Критерии оценки фенотипа новорожденного для формирования группы повышенного риска генетических заболеваний. Неонатология: новости, мнения, обучение. 2022; 10(4): 47-53. doi:10.33029/2308-2402-2022-10-4-47-53; Petit F, Andrieux J, Holder-Espinasse M, Bouquillon S, Pennaforte T, Storme L, et al. Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia. Eur J Med Genet. 2011; 54(5): e525-e527. doi:10.1016/j.ejmg.2011.06.011; Krepischi ACV, Villela D, da Costa SS, Mazzonetto PC, Schauren J, Migliavacca MP, et al. Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil. Sci Rep. 2022; 12(1): 15184. doi:10.1038/s41598-022-19274-6; Лебедев И.Н., Шилова Н.В., Юров И.Ю., Малышева О.В., Твеленева А.А., Миньженкова М.Е., и др. Рекомендации Российского общества медицинских генетиков по хромосомному микроматричному анализу. Медицинская генетика. 2023; 22(10): 3-47. doi:10.25557/20737998.2023.10.3-47; Levy B, Wapner R. Prenatal diagnosis by chromosomal microarray analysis. Fertil Steril. 2018; 109(2): 201-212. doi:10.1016/j.fertnstert.2018.01.005; Teles TM, Paula CM, Ramos MG, Costa HB, Andrade CR, Coxir SA, et al. Frequency of chromosomal abnormalities in products of conception. Rev Bras Ginecol Obstet. 2017; 39(03): 110-114. doi:10.1055/s-0037-1600521; Genovese A, Butler MG. Clinical assessment, genetics, and treatment approaches in autism spectrum disorder (ASD). Int J Mol Sci. 2020; 21(13): 4726. doi:10.3390/ijms21134726; Bedeschi MF, Novelli A, Bernardini L, Parazzini C, Bianchi V, Torres B, et al. Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene. Am J Med Genet A. 2008; 146A: 1718-1724. doi:10.1002/ajmg.a.32365; https://www.actabiomedica.ru/jour/article/view/4946

الاتاحة: https://www.actabiomedica.ru/jour/article/view/4946
https://doi.org/10.29413/ABS.2024-9.4.7

المؤلفون: S. N. Fedenev, E. V. Kudryavtseva, V. V. Kovalev, N. V. Mostova, K. V. Styukova, С. Н. Феденев, Е. В. Кудрявцева, В. В. Ковалев, Н. В. Мостова, К. В. Стрюкова

المصدر: Medical Genetics; Том 23, № 2 (2024); 14-26 ; Медицинская генетика; Том 23, № 2 (2024); 14-26 ; 2073-7998

مصطلحات موضوعية: секвенирование экзома, isomerism, CHD, karyotype, CMA, chromosomal microarray analysis, sequencing, изомерия, врожденный порок сердца, кариотип, ХМА, хромосомный микроматричный анализ

وصف الملف: application/pdf

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Front Med. 2018;12(5):559-565. doi:10.1007/s11684-017-0562-3; Cheong A., Lingutla R., Mager J. Expression analysis of mammalian mitochondrial ribosomal protein genes. Gene Expr Patterns. 2020;38:119147. doi:10.1016/j.gep.2020.119147; Sultana N., Rahman M., Myti S., Islam J., Mustafa M.G., Nag K. A novel knowledge-derived data potentizing method revealed unique liver cancer-associated genetic variants. Hum Genomics. 2019;13(1):30. doi:10.1186/s40246-019-0213-7; Fakhro K.A., Choi M., Ware S.M., et al. Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proc Natl Acad Sci U S A. 2011;108(7):2915-2920. doi:10.1073/pnas.1019645108; Spéder P., Adám G., Noselli S. Type ID unconventional myosin controls left-right asymmetry in Drosophila. Nature. 2006;440(7085):803-807. doi:10.1038/nature04623; Hozumi S., Maeda R., Taniguchi K., et al. An unconventional myosin in Drosophila reverses the default handedness in visceral organs. Nature. 2006;440(7085):798-802. doi:10.1038/nature04625; https://www.medgen-journal.ru/jour/article/view/2418

الاتاحة: https://www.medgen-journal.ru/jour/article/view/2418
https://doi.org/10.25557/2073-7998.2024.02.14-26

المؤلفون: Kudryavtseva E.V., Kovtun O.P., Kovalev V.V.

المساهمون: 1

المصدر: Annals of the Russian academy of medical sciences; Vol 79, No 2 (2024); 123-130 ; Вестник Российской академии медицинских наук; Vol 79, No 2 (2024); 123-130 ; 2414-3545 ; 0869-6047 ; 10.15690/vramn.792

مصطلحات موضوعية: miscarriage, clinical sequencing of exome, chromosomal micromatrix analysis, preimplantation genetic testing, embryo genome sequencing, невынашивание беременности, клиническое секвенирование экзома, хромосомный микроматричный анализ, преимплантационное генетическое тестирование, секвенирование генома эмбриона

وصف الملف: application/pdf

Relation: https://vestnikramn.spr-journal.ru/jour/article/view/8378/1965; https://vestnikramn.spr-journal.ru/jour/article/view/8378/1972; https://vestnikramn.spr-journal.ru/jour/article/view/8378

الاتاحة: https://vestnikramn.spr-journal.ru/jour/article/view/8378
https://doi.org/10.15690/vramn8378

المؤلفون: D. S. Isubakova, N. V. Litviakov, O. S. Tsymbal, T. V. Usova, M. Yu. Tsyplenkova, I. V. Milto, R. M. Takhauov

المصدر: Бюллетень сибирской медицины, Vol 21, Iss 4, Pp 79-87 (2023)

مصطلحات موضوعية: ионизирующее излучение, индивидуальная радиочувствительность, хромосомные аберрации, полиморфизм генов, микроматричный анализ, Medicine

وصف الملف: electronic resource

Relation: https://bulletin.ssmu.ru/jour/article/view/5027; https://doaj.org/toc/1682-0363; https://doaj.org/toc/1819-3684

URL الوصول: https://doaj.org/article/ee6b26ba9eb04204823625eead0cb8b9

المؤلفون: M. T. Kaplanova, A. M. Galaktionova, A. A. Potapov, E. S. Kuznetsova, E. E. Baranova, O. V. Sagaydak, M. S. Belenikin, G. Yu. Bobrovnik, V. L. Izhevskaya, S. V. Martirosyan, A. S. Shkoda, М. Т. Капланова, А. Н. Галактионова, А. А. Потапов, Е. С. Кузнецова, Е. Е. Баранова, О. В. Сагайдак, М. С. Беленикин, Г. Ю. Бобровник, В. Л. Ижевская, С. В. Мартиросян, А. С. Шкода

المساهمون: The work was funded by the Moscow budget subsidy No. 01-04-593 dated November 10, 2021., Работа выполнена за счет субсидии из бюджета г. Москвы № 01-04-593 от 10.11.2021 в рамках приказа Департамента здравоохранения города Москвы № 1181 от 30.11.2021 «Об организации проведения современных молекулярно-генетических исследований в городе Москве беременным женщинам и супружеским парам с отягощенным анамнезом». Авторы благодарят сотрудников лаборатории ООО «Эвоген» за проведение лабораторной работы: Леонову В.С., Золотопуп А.А., Голованову М.А., Панферову А.А., Айдарову В.И., Криницыну А.А, а также сотрудников Цитогенетической лаборатории ГБУЗ ЦПСиР ДЗМ и заведующую лабораторией Дубровину Е.В.

المصدر: Medical Genetics; Том 22, № 3 (2023); 24-34 ; Медицинская генетика; Том 22, № 3 (2023); 24-34 ; 2073-7998

مصطلحات موضوعية: хромосомные перестройки, prenatal diagnosis, noninvasive prenatal testing, chromosomal microarray analysis, chromosomal rearrangements, пренатальная диагностика, неинвазивное пренатальное тестирование, хромосомный микроматричный анализ

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/2276/1701; Капланова М.Т., Галактионова А.М., Баранова Е.Е. и др. Оценка медико-экономической эффективности внедрения неинвазивного пренатального теста: международный опыт. Вестник РАМН 2022; 77(4). doi:10.15690/vramn2006; Оленев А.С., Баранова Е.Е., Сагайдак О.В. и др. Международный опыт организации проведения неинвазивного пренатального теста. Вопросы гинекологии, акушерства и перинатологии 2021; 20(1): 129-137. doi:10.20953/1726-1678-2021-1-129-137; Оленев А.С., Баранова Е.Е., Сагайдак О.В. и др. Случайные находки при использовании полногеномного неинвазивного пренатального теста: клинические и этические аспекты. Проблемы репродукции 2021; 27(1): 78-87. doi:10.17116/repro20212701178; Bedei I., Wolter A., Weber A., et al. Chances and Challenges of New Genetic Screening Technologies (NIPT) in Prenatal Medicine from a Clinical Perspective: A Narrative Review. Genes (Basel) 2021; 12(4): 501. doi:10.3390/genes12040501; Zaninović L., Bašković M., Ježek D. et al. Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review. Journal of Clinical Medicine 2022; 11(12): 3350. doi:10.3390/jcm11123350; Van den Veyver I.B. Recent advances in prenatal genetic screening and testing. F1000Res. 2016; 5: 2591. doi:10.12688/f1000research.9215.1.; Liu X., Liu S., Wang H., Hu T. Potentials and challenges of chromosomal microarray analysis in prenatal diagnosis. Front Genet. 2022 Jul 26; 13: 938183. doi:10.3389/fgene.2022.938183; Shaffer L.G., Rosenfeld J.A., Dabell M.P., et al. Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenatal Diagnosis 2012; 32(10): 986-95. doi:10.1002/pd.3943; Srebniak M.I., Diderich K.E., Joosten M., et al. Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs. European Journal of Human Genetics 2015; 24(5): 645-51. doi:10.1038/ejhg.2015.193; Wapner R.J., Martin C.L., Levy B., et al. Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis. New England Journal of Medicine 2012; 367(23): 2175-84. doi:10.1056/nejmoa1203382; Grande M., Jansen F.A.R., Blumenfeld Y.J., et al. Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis. Ultrasound in Obstetrics & Gynecology 2015; 46(6): 650-8. doi:10.1002/uog.14880; Levy B., Wapner, R. Prenatal diagnosis by chromosomal microarray analysis. Fertility and sterility 2018; 109(2): 201-212. doi:10.1016/j.fertnstert.2018.01.005; Dugoff L., Norton M.E., Kuller J.A. The use of chromosomal microarray for prenatal diagnosis. American Journal of Obstetrics and Gynecology 2016; 215(4): B2-9. doi:10.1016/j.ajog.2016.07.016; American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol. 2013; 122(6): 1374-7. doi:10.1097/01.AOG.0000438962.16108.d1.; Riggs E.R., Andersen E.F., Cherry A.M., et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020; 22(2): 245-257. doi:10.1038/s41436-019-0686-8.; Антоненко В.Г., Светличная Д.В., Журкова Н.В. и др. Случай синдрома Эмануэль у новорожденной девочки с врожденным пороком сердца. Медицинская генетика 2019; 18(9): 34-39. doi:10.25557/2073-7998.2019.09.34-39; Баранов В.С., Кузнецова Т.В. Цитогенетика эмбрионального развития человека: Научно-практические аспекты. СПб: Издательство Н-Л, 2006. 640 с.; Шилова Н.В. Аутосомные реципрокные транслокации: пренатальная селекция, сегрегация и оценка эмпирического риска рождения жизнеспособного ребенка с хромосомным дисбалансом при семейном носительстве. Медицинская генетика 2018; 17(1): 41-49. doi:10.25557/2073-7998.2018.01.41-49; https://www.medgen-journal.ru/jour/article/view/2276

الاتاحة: https://www.medgen-journal.ru/jour/article/view/2276
https://doi.org/10.25557/2073-7998.2023.03.24-34

المؤلفون: D. S. Isubakova, N. V. Litviakov, O. S. Tsymbal, T. V. Usova, M. Y. Tsyplenkova, I. V. Milto, R. M. Takhauov, Д. С. Исубакова, Н. В. Литвяков, О. С. Цымбал, Т. В. Усова, М. Ю. Цыпленкова, И. В. Мильто, Р. М. Тахауов

المصدر: Medical Genetics; Том 21, № 11 (2022); 32-35 ; Медицинская генетика; Том 21, № 11 (2022); 32-35 ; 2073-7998

مصطلحات موضوعية: микроматричный анализ, chromosomal aberrations, ionizing radiation, microarray analysis, хромосомные аберрации, ионизирующее излучение

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/2195/1660; Литвяков Н.В., Халюзова М.В., Тахауов Р.М. и др. Аберрации числа копий ДНК в лимфоцитах крови лиц, подвергавшихся профессиональному облучению, как потенциальный маркёр их высокой радиочувствительности. Вестник Томского государственного университета. Биология. 2015;2(30):113-133. doi:10.17223/19988591/30/8.; Helleday T., Lo J., van Gent D.C., Engelward B.P. DNA double-strand break repair: from mechanistic understanding to cancer treatment. DNA repair(Amst). 2007;6(7):923-935.doi:10.1016/j.dnarep.2007.02.006; Ward J. DNA damage produced by ionizing radiation in mammalian cells: identities, mechanisms of formation, and reparability.Progress in Nucleic Acid Research and Molecular Biology. 1988;35:95-125.doi:10.1016/s0079-6603(08)60611-x; Литвяков Н.В., Гончарик О.О., Межерицкий С.А. и др. Генетические аспекты развития злокачественных новообразований в условиях долговременного радиационного воздействия. Под общ. ред. Р.М. Tахауова.Томск: Изд-во Том. ун-та, 2009.130 с.; Снигирева Г.П. Биологическая дозиметрия на основе цитогенетического анализа. Вестник Российского научного центра рентгенорадиологии. 2011;1(11).; Zhang F., Gu W., Hurles M.E., Lupski. Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet. 2009;10:451-481. doi:10.1146/annurev.genom.9.081307. 164217.; Huang N., Shah P.K., Li C. Lessons from a decade of integrating cancer copy number alterations with gene expression profiles. Brief Bioinform. 2012;13(3):305-316. doi:10.1093/bib/bbr056.; Pharoah P.D., Antoniou A., Bobrow M. et al. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet. 2002;31(1):33-36. doi:10.1038/ng853.; Литвяков Н.В., Фрейдин М.Б., Халюзова М.В. и др. Частота и спектр цитогенетических аномалий у работников Сибирского химического комбината. Радиационная биология. Радиоэкология. 2014;54(3):283-296. doi:10.7868/S0869803114030084; https://www.medgen-journal.ru/jour/article/view/2195

الاتاحة: https://www.medgen-journal.ru/jour/article/view/2195
https://doi.org/10.25557/2073-7998.2022.11.32-35

المؤلفون: Zh. G. Markova, M. E. Minzhenkova, I. V. Sharkova, M. S. Petukhova, N. V. Shilova, Ж. Г. Маркова, М. Е. Миньженкова, И. В. Шаркова, М. С. Петухова, Н. В. Шилова

المصدر: Medical Genetics; Том 21, № 12 (2022); 56-59 ; Медицинская генетика; Том 21, № 12 (2022); 56-59 ; 2073-7998

مصطلحات موضوعية: хромосомный микроматричный анализ, intragenic duplication, сhromosomal microarray analysis, внутригенная дупликация, DMD

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/2218/1683; Waggoner D., Wain K.E., Dubuc A.M., Conlin L., Hickey S.E., Lamb A.N., Martin C.L., Morton C.C., Rasmussen K., Schuette J.L., Schwartz S., Miller D.T.; ACMG Professional Practice and Guidelines Committee. Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018;20(10):1105-1113. doi:10.1038/s41436-018-0040-6; Aartsma-Rus A., den Dunnen J.T. Phenotype predictions for exon deletions/duplications: A user guide for professionals and clinicians using Becker and Duchenne muscular dystrophy as examples. Hum Mutat. 2019;40(10):1630-1633. doi:10.1002/humu.23850. Muntoni F., Torelli S., Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2003; 2: 731-40. doi:10.1016/S1474-4422(03)00585-4; Baskin B., Stavropoulos D.J., Rebeiro P.A., Orr J., Li M., Steele L., Marshall C.R., Lemire E.G., Boycott K.M., Gibson W., Ray P.N.Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms. Mol Genet Genomic Med. 2014;2(6):539-47. doi:10.1002/mgg3.108; del Gaudio D., Yang Y., Boggs B.A., Schmitt E.S., Lee J.A., Sahoo T., Pham H.T., Wiszniewska J., Chinault A.C., Beaudet A.L., Eng C.M. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat. 2008;29(9):1100-7. doi:10.1002/humu.20841; Bai Y., Liu J., Xu J., Sun Y., Li J., Gao Y., Liu L., Jia C., Kong X., Wang L. Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56-61 in DMD in an Asymptomatic Male and a DMD Patient. Front Genet. 2022;13:878806. doi:10.3389/fgene.2022.878806; Bladen C.L., Salgado D., Monges S., et al. The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat. 2015;36(4):395-402. doi:10.1002/humu.22758; Sheikh O., Yokota T. Advances in Genetic Characterization and Genotype-Phenotype Correlation of Duchenne and Becker Muscular Dystrophy in the Personalized Medicine Era. J Pers Med. 2020;10(3):111. doi:10.3390/jpm10030111; Bovolenta M., Neri M., Fini S., et al. A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC Genomics. 2008;9:572. doi:10.1186/1471-2164-9-572; Zaum A.K., Nanda I., Kress W., Rost S. Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing. Mol Genet Genomic Med. 2022;10(10):e2028. doi:10.1002/mgg3.2028; Whitehead M.T., Helman G., Gropman A.L. MR Imaging Findings in Xp21.2 Duplication Syndrome. J Radiol Case Rep. 2016;10(5):9-14. doi:10.3941/jrcr.v10i5.2563; https://www.medgen-journal.ru/jour/article/view/2218

الاتاحة: https://www.medgen-journal.ru/jour/article/view/2218
https://doi.org/10.25557/2073-7998.2022.12.56-59

المؤلفون: M. K. Ibragimova, M. M. Tsyganov, E. M. Slonimskaya, N. V. Litviakov

المصدر: Бюллетень сибирской медицины, Vol 19, Iss 3, Pp 22-28 (2020)

مصطلحات موضوعية: рак молочной железы, микроматричный анализ, делеции, амплификации, неоадъювантная химиотерапия, Medicine

وصف الملف: electronic resource

Relation: https://bulletin.ssmu.ru/jour/article/view/2973; https://doaj.org/toc/1682-0363; https://doaj.org/toc/1819-3684

URL الوصول: https://doaj.org/article/e4d62c4a4f3c423582104e0ae8a1217d

المؤلفون: V. Yu. Buslaev, V. I. Minina, V. G. Druzhinin, В. Ю. Буслаев, В. И. Минина, В. Г. Дружинин

المصدر: Medical Genetics; Том 21, № 7 (2022); 33-35 ; Медицинская генетика; Том 21, № 7 (2022); 33-35 ; 2073-7998

مصطلحات موضوعية: дифференциальная экспрессия генов, transcriptome, microarray analysis, differential gene expression, транскриптом, микроматричный анализ

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/2102/1569; Bray F., Ferlay J., Soerjomataram I., et al. Global cancerstatistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA: A Cancer Journal for Clinicians. 2018 Nov;68(6):394-424.; Malhotra J., Malvezzi M., Negri E., et al. Risk factors for lung cancer worldwide. Eur Respir J. 2016 Sep;48(3):889-902.; Wang J., Liu Q., Yuan S., et al. Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies. Sci Rep. 2017 Aug;7(1):8371-8384.; Han J., Chen M., Wang Y., et al. Identification of Biomarkers Based on Differentially Expressed Genes in Papillary Thyroid Carcinoma. Sci Rep. 2018 Jul;8(1):9912-9923.; Malone J.H., Oliver B. Microarrays, deep sequencing and the true measure of the transcriptome. BMC Biol. 2011 May;9(1):34-43.; Misono S., Mizuno K., Suetsugu T., et al. Molecular Signature of Small Cell Lung Cancer after Treatment Failure: The MCM Complex as Therapeutic Target. Cancers. 2021 Mar 10;13(6):1187-1203.; https://www.medgen-journal.ru/jour/article/view/2102

الاتاحة: https://www.medgen-journal.ru/jour/article/view/2102
https://doi.org/10.25557/2073-7998.2022.07.33-35

المؤلفون: K. A. Svirepova, M. V. Kuznetsova, N. A. Karetnikova, D. Yu. Trofimov, К. А. Свирепова, М. В. Кузнецова, Н. А. Каретникова, Д. Ю. Трофимов

المصدر: Medical Genetics; Том 21, № 4 (2022); 38-44 ; Медицинская генетика; Том 21, № 4 (2022); 38-44 ; 2073-7998

مصطلحات موضوعية: полидактилия левой кисти, prenatal diagnosis, microarray analysis, growth retardation, short nose, low-set auricles, left hand polydactyly, пренатальная диагностика, микроматричный анализ, отставание в росте, короткий нос, низко посаженные ушные раковины

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/2052/1560; Narahara K., Kodama Y., Kimura S. et al. Probable inverted tandem duplication of Xp in a 46,Xp+Y boy. Japanese Journal of Human Genetics. 1979;24, 105-110. http://dx.doi.org/10.1007/BF01888928; Slavotinek A. Chromosome abnormalities and genetic counseling, 3rd edn. Journal of Medical Genetics. 2004;41: 400-400.; Chen C.P., Yip H.K., Wang L.K., Chern S.R., Chen S.W., Lai S.T, Wu P.S., Wang W. Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1. Taiwan J Obstet Gynecol. 2017 Jun;56(3):385-389. doi:10.1016/j.tjog.2017.04.023.; Leppig K.A., Disteche C.M. Ring X and other structural X chromosome abnormalities: X inactivation and phenotype. Semin Reprod Med. 2001;19(2): 147-157. http://dx.doi.org/10.1055/s-2001-15395; Steinbach P., Horstmann W., Scholz W. Tandem duplication dup(X)(q13q22) in male proband inherited from the mother showing mosaicism of X-inactivation. Hum Genet. 1980;54: 309-313. http://dx.doi.org/10.1007/BF00291574; Van Dyke D.L., Miller M.J., Weiss L. The origin of inverted tandem duplications, and phenotypic effects of tandem duplication of the X chromosome long arm. Am J Med Genet. 1983;15:441-450. http://dx.doi.org/10.1002/ajmg.1320150309; Vejerslev L.O., Rix M., Jespersen B. Inherited tandem duplication dup(X)(q13.1-q21.2) in a male proband. Clin Genet. 1985;27:276-81. http://dx.doi.org/10.1111/j.1399-0004.1985.tb00220.x; Thode A., Partington M.W., Yip M.Y., Chapman C., Richardson V.F., Turner G. A new syndrome with mental retardation, short stature and an Xq duplication. Am J Med Genet. 1988;30: 239-50. http://dx.doi.org/10.1002/ajmg.1320300125; Yokoyama Y., Narahara K., Tsuji K., Moriwake T., Kanzaki S., Murakami M., et al. Growth hormone deficiency and empty sella syndrome in a boy with dup(X)(q13.3-q21.2). Am J Med Genet. 1992;42:660-4. http://dx.doi.org/10.1002/ajmg.1320420506; Aughton D.J., Al Saadi A.A., Jhonson J.A., Transue D.J., Trock G.L. Dup(X)(q13-qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies. Am J Med Genet. 1993;46(2): 395-400. http://dx.doi.org/10.1002/ajmg.1320460212; Shapira M., Dar H., Bar-El H., Bar-Nitzan N., Even L., Borochowitz Z. Inherited inverted duplication of X chromosome in a male: report of a patient and review of the literature. Am J Med Genet. 1997;72:409-14. http://dx.doi.org/10.1002/(sici)1096-8628(19971112)72:43.0.co;2-l; Hou J.-W. Inherited tandem duplication of the X chromosome: dup(X)(q13.2-q21.2) in a family. Chang Gung Med J. 2004;27:685-90.; Ozer O., Yilmaz Z., Simsek E., Derbent M., Guner S., Sahin FI. Two patients with X chromosome duplicacion: dupXp and dupXq. Balkan Journal of medical genetics. 2009; 12(2):59-63. http://dx.doi.org/10.2478/v10034-010-0008-6; Martínez F., Rosell M., Mayo S., Monfort S., Oltra S., Orellana C. Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRXgene. Am J Med Genet. 2014;164A:918-23. http://dx.doi.org/10.1002/ajmg.a.36371; Armstrong L., McGowan-Jordan J., Brierley K., Allanson J.E. De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype. Am J Med Genet. 2003;116A: 71-76. http://dx.doi.org/10.1002/ajmg.a.10727; https://www.deciphergenomics.org/patient/402425/genotype/182012/browser; https://www.deciphergenomics.org/patient/360282/genotype/141555/browser; https://www.deciphergenomics.org/patient/370591/genotype/152312/browser; https://www.medgen-journal.ru/jour/article/view/2052

الاتاحة: https://www.medgen-journal.ru/jour/article/view/2052
https://doi.org/10.25557/2073-7998.2022.04.38-44

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: E. Zaiaeva E., E. Andreeva N., N. Demikova S., Е. Заяева Е., Е. Андреева Н., Н. Демикова С.

المصدر: Medical Genetics; Том 20, № 7 (2021); 59-66 ; Медицинская генетика; Том 20, № 7 (2021); 59-66 ; 2073-7998

مصطلحات موضوعية: chromosomal abnormalities, prevalence, newborn, fetus, monitoring, array comparative genomic hybridization, хромосомные аномалии, популяционная частота, новорожденные, плоды, мониторинг, хромосомный микроматричный анализ

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/1949/1504; Stevenson R.E., Hall J.G., Everman DB, Solomon BD, eds. Human Malformations and Related Anomalies. 3rd ed. Oxford, New York: Oxford University Press; 2016.; Loane M. Morris J.K., Addor M.C., et al. Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. Eur J Hum Genet. 2013;21(1):27-33. doi:10.1038/ejhg.2012.94; Николаидес К. Ультразвуковое исследование в 11-13(+6) недель беременности. Перевод с английского Михайлова А, Некрасова Е. СПб.: Петрополис, 2007; 144 с.; Miller D.T., Adam M.P., Aradhya S., et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749-764. doi:10.1016/j.ajhg.2010.04.006; Jansen F.A., Blumenfeld Y.J., Fisher A., et al. Array comparative genomic hybridization and fetal congenital heart defects: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015;45(1):27-35. doi:10.1002/uog.14695; Grande M., Jansen F.A., Blumenfeld Y.J., et al. Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015;46(6):650-658. doi:10.1002/uog.14880; Committee on Genetics and the Society for Maternal-Fetal Medicine. Committee Opinion No.682: Microarrays and Next-Generation Sequencing Technology: The Use of Advanced Genetic Diagnostic Tools in Obstetrics and Gynecology. Obstet Gynecol. 2016;128(6):e262-e268.; Wellesley D., Dolk H., Boyd P.A., et al. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet. 2012;20(5):521-526. doi:10.1038/ejhg.2011.246; Baena N., De Vigan C., Cariati E., et al. Prenatal detection of rare chromosomal autosomal abnormalities in Europe. Am J Med Genet A. 2003;118A(4):319-327. doi:10.1002/ajmg.a.10104; https://www.medgen-journal.ru/jour/article/view/1949

الاتاحة: https://www.medgen-journal.ru/jour/article/view/1949
https://doi.org/10.25557/2073-7998.2021.07.59-66

المؤلفون: I. V. Anisimova, И. В. Анисимова

المصدر: Medical Genetics; Том 20, № 2 (2021); 3-20 ; Медицинская генетика; Том 20, № 2 (2021); 3-20 ; 2073-7998

مصطلحات موضوعية: диагностическая эффективность, intellectual disability, prevalence, chromosomal microarray analysis, next generation sequencing, diagnostic efficiency, нарушения интеллекта, распространенность, хромосомный микроматричный анализ, секвенирование нового поколения

وصف الملف: application/pdf

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Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. Mol Psychiatry. 2018;23(4):973-984.; de Ligt J, Willemsen M.H., van Bon B.W.M. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012;367:1921-1929.; Wright C.F., Fitzgerald T.W., Jones W.D. et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet. 2015;385:1305-1314.; Lee H., Deignan J.L., Dorrani N. et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014;312:1880-1887.; Lindstrand A., Eisfeldt J., Pettersson M. et al. From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. Genome Med. 2019;11(1):68.; https://www.medgen-journal.ru/jour/article/view/1874

الاتاحة: https://www.medgen-journal.ru/jour/article/view/1874
https://doi.org/10.25557/2073-7998.2021.02.3-20

المؤلفون: M. K. Ibragimova, M. M. Tsyganov, N. A. Tarabanovskaya, L. A. Tashireva, I. V. Deryusheva, V. M. Perelmuter, E. M. Slonimskaya, N. V. Litviakov

المصدر: Бюллетень сибирской медицины, Vol 17, Iss 1, Pp 232-238 (2018)

مصطلحات موضوعية: ак молочной железы, вирус папилломы человека, микроматричный анализ, прогноз, Medicine

وصف الملف: electronic resource

Relation: https://bulletin.ssmu.ru/jour/article/view/1133; https://doaj.org/toc/1682-0363; https://doaj.org/toc/1819-3684

URL الوصول: https://doaj.org/article/bd656d283f2840bc98f635b95269b1d3

المؤلفون: Kievskaya, J. K., Kanivets, I. V., Kudryavtseva, E. V., Pyankov, D. V., Korostelev, S. A., Киевская, Ю. К., Канивец, И. В., Кудрявцева, Е. В., Пьянков, Д. В., Коростелев, С. А.

مصطلحات موضوعية: CHROMOSOMAL MICROARRAY ANALYSIS, PRENATAL DIAGNOSIS, CONGENITAL MALFORMATIONS OF THE CENTRAL NERVOUS SYSTEM, ХРОМОСОМНЫЙ МИКРОМАТРИЧНЫЙ АНАЛИЗ, ПРЕНАТАЛЬНАЯ ДИАГНОСТИКА, ВРОЖДЕННЫЕ ПОРОКИ ЦЕНТРАЛЬНОЙ НЕРВНОЙ СИСТЕМЫ

وصف الملف: application/pdf

Relation: Scopus; Киевская Ю.К., Канивец И.В., Кудрявцева Е.В., Пьянков Д.В., Коростелев С.А. Применение хромосомного микроматричного анализа для диагностики хромосомной патологии у плодов с врожденными пороками центральной нервной системы. Акушерство, Гинекология и Репродукция. 2020;14(4):449–456.; http://elib.usma.ru/handle/usma/7190

الاتاحة: http://elib.usma.ru/handle/usma/7190

المؤلفون: M. Tsyganov M., M. Ibragimova K., A. Pevzner M., N. Litviakov V., М. Цыганов М., М. Ибрагимова К., А. Певзнер М., Н. Литвяков В.

المصدر: Siberian journal of oncology; Том 19, № 3 (2020); 97-101 ; Сибирский онкологический журнал; Том 19, № 3 (2020); 97-101 ; 2312-3168 ; 1814-4861 ; 10.21294/1814-4861-2020-19-3

مصطلحات موضوعية: breast cancer, BRCA1 and BRCA2 mutation in the tumor, loss of heterozygosity, microarray analysis, personalized medicine, рак молочной железы, мутация BRCA1 и BRCA2 в опухоли, потеря гетерозиготности, микроматричный анализ, персонализированная медицина

وصف الملف: application/pdf

Relation: https://www.siboncoj.ru/jour/article/view/1492/751; Ryland G.L., Doyle M.A., Goode D., Boyle S.E., Choong D.Y., Rowley S.M., Li J., Bowtell D.D., Tothill R.W., Campbell I.G. Loss of heterozygosity: what is it good for? BMC Med Genomics. 2015; 8: 45. doi:10.1186/s12920-015-0123-z.; Knudson A.G. Mutation and cancer: statistical study of retinoblastoma. Proceedings of the National Academy of Sciences. 1971; 68(4): 820–823.; Chen Y., Chen C. DNA copy number variation and loss of heterozygosity in relation to recurrence of and survival from head and neck squamous cell carcinoma: a review. Head Neck. 2008; 30(10): 1361–83. doi:10.1002/hed.20861.; Silva J.M., Silva J., Sanchez A., Garcia J.M., Dominguez G., Provencio M., Sanfrutos L., Jareño E., Colas A., España P., Bonilla F. Tumor DNA in plasma at diagnosis of breast cancer patients is a valuable predictor of disease-free survival. Clinical Cancer Research, 2002; 8(12): 3761–3766.; Okudela K., Tateishi Y., Umeda S., Mitsui H., Suzuki T., Saito Y., Woo T., Tajiri M., Masuda M., Miyagi Y., Ohashi K. Allelic Imbalance in the miR-31 Host Gene Locus in Lung Cancer-Its Potential Role in Carcinogenesis. PLoS One. 2014 Jun 30; 9(6): e100581. doi:10.1371/ journal.pone.0100581.; Fleming J.L., Dworkin A.M., Allain D.C., Fernandez S., Wei L., Peters S.B., Iwenofu O.H., Ridd K., Bastian B.C., Toland A.E. Allele – specific imbalance mapping identifies HDAC9 as a candidate gene for cutaneous squamous cell carcinoma. Int J Cancer. 2014 Jan 1; 134(1): 244–8. doi:10.1002/ijc.28339.; Shikeeva A., Kekeeva T., Zavalishina L., Andreeva I., Frank G. Allelic imbalance in patients with non-small cell lung cancer. Arkh Patol. 2013; 75(2): 3–8.; Saito M., Okamoto A., Kohno T., Takakura S., Shinozaki H., Isonishi S., Yasuhara T., Yoshimura T., Ohtake Y., Ochiai K., Yokota J., Tanaka T. Allelic imbalance and mutations of the PTEN gene in ovarian cancer. Int J Cancer. 2000; 85(2): 160–165.; Beckmann M.W., Picard F., An H.X., van Roeyen C.R., Dominik S.I., Mosny D.S., Schnürch H.G., Bender H.G., Niederacher D. Clinical impact of detection of loss of heterozygosity of BRCA1 and BRCA2 markers in sporadic breast cancer. Br J Cancer. 1996 May; 73(10): 1220–6.; Maxwell K.N., Wubbenhorst B., Wenz B.M., De Sloover D., Pluta J., Emery L., Barrett A., Kraya A.A., Anastopoulos I.N., Yu S., Jiang Y., Chen H., Zhang N.R., Hackman N., D'Andrea K., Daber R., Morrissette J.J.D., Mitra N., Feldman M., Domchek S.M., Nathanson K.L. BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers. Nat Commun. 2017 Aug 22; 8(1): 319. doi:10.1038/s41467-017-00388-9.; Sokolenko A., Savanevich A., Stepuro T., Shulga A., Berlev I., Imyanitov E., Petrov N. Loss of heterozygosity at the BRCA1 locus as a marker of sen-sitivity for adjuvant chemotherapy in hereditary ovarian cancer. Biological Markers in Fundamental and Clinical Medicine. 2017; 1(3): 29–31.; Telli M.L., Hellyer J., Audeh W., Jensen K.C., Bose S., Timms K.M., Gutin A., Abkevich V., Peterson R.N., Neff C., Hughes E., Sangale Z., Jones J., Hartman A.R., Chang P.J., Vinayak S., Wenstrup R., Ford J.M. Homologous recombination deficiency (HRD) status predicts response to standard neoadjuvant chemotherapy in patients with triple-negative or BRCA1/2 mutation-associated breast cancer. Breast Cancer Res Treat. 2018 Apr; 168(3): 625–630. doi:10.1007/s10549-017-4624-7.; Pennington K.P., Walsh T., Harrell M.I., Lee M.K., Pennil C.C., Rendi M.H., Thornton A., Norquist B.M., Casadei S., Nord A.S., Agnew K.J., Pritchard C.C., Scroggins S., Garcia R.L., King M.C., Swisher E.M. Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin Cancer Res. 2014 Feb 1; 20(3): 764–75. doi:10.1158/1078-0432.CCR-13-2287.; Литвяков Н.В., Чердынцева Н.В., Цыганов М.М., Денисов Е.В., Мерзлякова М.К., Гарбуков Е.Ю., Вторушин С.В., Завьялова М.В., Слонимская Е.М. Ассоциация генетического полиморфизма с изменением экспрессии генов множественной лекарственной устойчивости в опухоли молочной железы в процессе неоадъювантной химиотерапии. Медицинская генетика. 2011; 10(10): 37–43.; Sakr S., Abdulfatah E., Loehr A., Simmons A., Morris R., AliFehmi R. Prognostic impact of loss of heterozygosity in uterine serous carcinoma. Gynecol Oncol. 2018; 149(1): 72.; https://www.siboncoj.ru/jour/article/view/1492

الاتاحة: https://www.siboncoj.ru/jour/article/view/1492
https://doi.org/10.21294/1814-4861-2020-19-3-97-101

المؤلفون: J. Kievskaya K., I. Kanivets V., E. Kudryavtseva V., D. Pyankov V., S. Korostelev A., Ю. Киевская К., И. Канивец В., E. Кудрявцева В., Д. Пьянков В., С. Коростелев А.

المصدر: Obstetrics, Gynecology and Reproduction; Vol 14, No 4 (2020); 449-456 ; Акушерство, Гинекология и Репродукция; Vol 14, No 4 (2020); 449-456 ; 2500-3194 ; 2313-7347

مصطلحات موضوعية: chromosomal microarray analysis, prenatal diagnosis, congenital malformations of the central nervous system, микроматричный анализ, пренатальная диагностика, врожденные пороки центральной нервной системы

وصف الملف: application/pdf

Relation: https://www.gynecology.su/jour/article/view/793/833; ISUOG Guidelines. Sonographic examination of the fetal central nervous system: guidelines for performing the 'basic examination' and the 'fetal neurosonogram'. Ultrasound Obstet Gynecol. 2007;29:109–16. https://doi.org/10.1002/uog.3909.; Демикова Н.С., Подольская М.А., Лапина А.С., Асанов А.Ю. Влияние пренатальной диагностики и селективных прерываний беременности на частоту врожденных пороков развития. Акушерство и гинекология. 2017;(7):130–5. https://doi.org/10.18565/aig.2017.7.130-5.; Симаходский А.С., Романенко О.П. Эффективность диагностики и лечения врожденных пороков развития в Санкт-Петербурге за 2006-2015 гг. Российский педиатрический журнал. 2017;20(4):214–7. https://doi.org/10.18821/1560-9561-2017-20-4-214-217.; Морозова Е.А., Сергеева Р.Р., Морозов Д.В. Современные проблемы диагностики и лечения неонатальных судорог. Эпилепсия и пароксизмальные состояния. 2018;10(4):17–25. https://doi.org/10.17749/2077-8333.2018.10.4.017-025.; Заваденко А.Н., Медведев М.И., Дегтярева М.Г. и др. Причины неонатальных судорог у детей различного гестационного возраста. Эпилепсия и пароксизмальные состояния. 2018;10(3):19–30. https://doi.org/10.17749/2077-8333.2018.10.3.019-030.; Кожанова Т.В., Жилина С.С., Мещерякова Т.И. и др. Мутация в гене ALD H7A1 у пациента с пиридоксин-зависимой неонатальной эпилептической энцефалопатией: клинический случай. Эпилепсия и пароксизмальные состояния. 2019;11(1):70–8. https://doi.org/10.17749/2077-8333.2019.11.1.70-78.; Huang J., Wah I.Y.M., Pooh R.K., Choy K.W. Molecular genetics in fetal neurology. Semin Fetal Neonatal Med. 2012;17(6):341–6. https://doi.org/10.1016/j.siny.2012.07.007.; Petracchi F., Crespo L., Michia C. et al. Holoprosencephaly at prenatal diagnosis: analysis of 28 cases regarding etiopathogenic diagnoses. Prenat Diagn. 2011;31(9):887–91. https://doi.org/10.1002/pd.2796.; Goetzinger K.R., Stamilio D.M., Dicke J.M., Macones G.A. Evaluating the incidence and likelihood ratios for chromosomal abnormalities in fetuses with common central nervous system malformations. Am J Obstet Gynecol. 2008;199(3):285.e1–6. https://doi.org/10.1016/j.ajog.2008.06.100.; Evangelidou P., Sismani C., Ioannides M. et al. Clinical application of whole-genome array CGH during prenatal diagnosis: study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations. Mol Cytogenet. 2010;3:24. https://doi.org/10.1186/1755-8166-3-24.; Гинтер Е.К., Золотухина Т.В., Антоненко В.Г. и др. Цитогенетические методы диагностики хромосомных болезней: Методическое пособие для врачей. М.: РМАПО-МГНЦ, 2009. 82 с.; Wapner R.J., Martin C.L., Levy B. et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367(23):2175–84. https://doi.org/10.1056/NEJMoa1203382.; Bui T-H., Vetro A., Zuffardi O., Shaffer L.G. Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? Prenat Diagn. 2011;31(3):235–43. https://doi.org/10.1002/pd.2722.; Friedman J.M. High-resolution array genomic hybridization in prenatal diagnosis. Prenat Diagn. 2009;29(1):20–8. https://doi.org/10.1002/pd.2129.; Vestergaard E.M., Christensen R., Petersen O.B., Vogel I. Prenatal diagnosis: array comparative genomic hybridization in fetuses with abnormal sonographic findings. Acta Obstet Gynecol Scand. 2013;92(7):762–8. https://doi.org/10.1111/aogs.12146.; Киевская Ю.К., Шилова Н.В., Канивец И.В. и др. Применение хромосомного микроматричного анализа для диагностики хромосомной патологии у плодов с врожденными пороками сердца. Уральский медицинский журнал. 2019;(15):18–22. https://doi.org/10.25694/URMJ.2019.15.06.; D'Amours G., Kibar Z., Mathonnet G. et al. Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype. Clin Genet. 2012;81(2):128–41. https://doi.org/10.1111/j.1399-0004.2011.01687.; Kearney H.M., Thorland E.C., Brown K.K. et al.; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med. 2011;13(7):680–5. https://doi.org/10.1097/GIM.0b013e3182217a3a; Sun L., Wu Q., Jiang S-W. et al. Prenatal diagnosis of central nervous system anomalies by high-resolution chromosomal microarray analysis. Biomed Res Int. 2015;2015:426379. https://doi.org/10.1155/2015/426379.; Wapner R.J., Martin C.L., Levy B. et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. New Engl J Med. 2012;367(23): 2175–84. https://doi.org/10.1056/NEJMoa1203382.; https://www.gynecology.su/jour/article/view/793

الاتاحة: https://www.gynecology.su/jour/article/view/793
https://doi.org/10.17749/2313-7347/ob.gyn.rep.2020.160

المؤلفون: J. Kievskaya K., I. Kanivets V., D. Pyankov V., Ю. Киевская К., И. Канивец В., Д. Пьянков В.

المصدر: Medical Genetics; Том 19, № 3 (2020); 62-63 ; Медицинская генетика; Том 19, № 3 (2020); 62-63 ; 2073-7998

مصطلحات موضوعية: хромосомный микроматричный анализ, анализ кариотипа, пренатальная диагностика, врожденные пороки развития, chromosomal microarray analysis, karyotype, prenatal diagnosis, congenital malformations

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/834/506; https://www.medgen-journal.ru/jour/article/view/834

الاتاحة: https://www.medgen-journal.ru/jour/article/view/834
https://doi.org/10.25557/2073-7998.2020.03.62-63

المؤلفون: D. Yurchenko A., M. Minzhenkova E., E. Dadali L., N. Shilova V., Д. Юрченко А., М. Миньженкова Е., Е. Дадали Л., Н. Шилова В.

المصدر: Medical Genetics; Том 19, № 3 (2020); 41-42 ; Медицинская генетика; Том 19, № 3 (2020); 41-42 ; 2073-7998

مصطلحات موضوعية: inv dup del(8p), FISH, хромосомный микроматричный анализ, chromosomal microarray analysis

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/824/496; https://www.medgen-journal.ru/jour/article/view/824

الاتاحة: https://www.medgen-journal.ru/jour/article/view/824
https://doi.org/10.25557/2073-7998.2020.03.41-42

المؤلفون: O. Talantova E., E. Serebryakova A., O. Malysheva V., A. Tikhonov V., E. Shabanova S., O. Efimova A., O. Chiryaeva G., V. Prokhorova S., A. Glotov S., О. Талантова Е., Е. Серебрякова А., О. Малышева В., А. Тихонов В., Е. Шабанова С., О. Ефимова А., О. Чиряева Г., В. Прохорова С., А. Глотов С.

المصدر: Medical Genetics; Том 19, № 3 (2020); 53-54 ; Медицинская генетика; Том 19, № 3 (2020); 53-54 ; 2073-7998

مصطلحات موضوعية: трисомия 2, пренатальная диагностика, хромосомный микроматричный анализ (arrayCGH), синдром задержки развития плода (СЗРП), маловодие, долихоцефалия, вентрикуломегалия, trisomy 2, prenatal diagnosis, chromosomal microarray analysis (arrayCGH), fetal growth retardation syndrome (FGR), oligohydramnios, dolichocephaly, ventriculomegaly

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/830/502; https://www.medgen-journal.ru/jour/article/view/830

الاتاحة: https://www.medgen-journal.ru/jour/article/view/830
https://doi.org/10.25557/2073-7998.2020.03.53-54