-
1Academic Journal
Συγγραφείς: R. R. Savchenko, A. A. Kashevarova, N. A. Skryabin, D. I. Zhigalina, M. E. Lopatkina, T. V. Nikitina, S. A. Vasilyev, I. N. Lebedev, Р. Р. Савченко, А. А. Кашеварова, Н. А. Скрябин, Д. И. Жигалина, М. Е. Лопаткина, Т. В. Никитина, С. А. Васильев, И. Н. Лебедев
Πηγή: Medical Genetics; Том 17, № 3 (2018); 49-54 ; Медицинская генетика; Том 17, № 3 (2018); 49-54 ; 2073-7998
Θεματικοί όροι: array comparative genomic hybridization (aCGH), неразвивающаяся беременность, вариации числа копий участков ДНК (CNV), матричная сравнительная геномная гибридизация (aCGH), anembryonic pregnancy, missed abortion, copy number variation (CNV)
Περιγραφή αρχείου: application/pdf
Relation: https://www.medgen-journal.ru/jour/article/view/407/302; Macklon NS, Geraedts JP, Fauser BC. Conception to ongoing pregnancy: the «black box» of early pregnancy loss. Hum. Reprod. Update. 2002;8(4):333-343.; Неразвивающаяся беременность. Методические рекомендации МАРС / В.Е. Радзинский. - М.: Редакция журнала StatusPraesens, 2015. - 48 c.; Лебедев ИН, Кашеварова АА, Скрябин НА и др. Матричная сравнительная геномная гибридизация (array-CGH) в диагностике хромомсомного дисбаланса и CNV-полиморфизма при анэмбрионии. Материалы II национального конгресса «Дискуссионные вопросы современного акушерства». 2013;LXII (2):117-125.; Griffin DK. The incidence, origin and etiology of aneuploidy. Int. Rev. Cytol. 1996;167:263-295.; Bassett AS, Chow EW, Husted J et al. Clinical features of 78 adults with 22q11 Deletion Syndrome. Am J Med Genet A. 2005;138(4):307-313.; Blackwood DH, Fordyce A, Walker MT. Schizophrenia and affective disorders-cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family. Am J Med Genet A. 2001;69(2):428-433.; Glessner JT, Wang K, Cai J et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature. 2009;459(7246):569-573.; Aitman TJ, Dong R, Vyse TJ et al. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature. 2006;439(7078):851-855.; Schaeffer AJ, Chung J, Heretis K et al. Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. Am. J. Hum. Genet. 2004;74:1168-1174.; Benkhalifa M, Kasakyan S, Clement P et al. Array comparative genomic hybridization profiling of first-trimester spontaneous abortions that fail to grow in vitro. Prenat. Diagn. 2005;25:94-900.; Shimokawa O, Harada N, Miyake N et al. Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with «normal» karyotypes. Am. J. Hum. Genet. 2006;140:1931-1935.; Conrad DF, Andrews TD, Carter NP et al. A high-resolution survey of deletion polymorphism in the human genome. Nat. Genet. 2006;38(1):75-81.; Menten B, Swerts K, Delle Chiaie B. Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples. BMC Medical Genetics. 2009;10:89-94.; Rajcan-Separovic E, Diego-Alvarez D, Robinson WP et al. Identification of copy number variants in miscarriage from couples with idiopathic recurrent pregnancy loss. Hum. Reprod. 2010;25:2913-2922.; Rajcan-Separovic E, Qiao Y, Tyson C et al. Genomic changes detected by array CGH in human embryos with developmental defects. Hum. Reprod. 2010;16:125-134.; Robberecht С, Pexsters A, Deprest J et al. Cytogenetic and morphological analysis of early products of conception following hysteroembryoscopy from couples with recurrent pregnancy loss. Prenat. Diagn. 2012;4:1-10.; Database of genomic variants. URL: http://dgv.tcag.ca/dgv/app/home (дата обращения 15.01.2016); Database of genomic variation and phenotype in humans using Ensembl Resources URL: https://decipher.sanger.ac.uk/ (дата обращения: 20.01.2016).; NCBI Gene. URL: http://www.ncbi.nlm.nih.gov/gene/ (дата обращения: 1.03.2016).; NCBI PubMed. URL: http://www.ncbi.nlm.nih.gov/pubmed/ (дата обращения: 1.03.2016).; Genome Browser University of California Santa Cruz. URL: https://genome.ucsc.edu/ (дата обращения 20.03.2016).; Genome browser Ensembl. URL: http://www.ensembl.org/index.html/ (дата обращения: 20.03.2016).; NCBI BLAST. URL: http://www.ncbi.nlm.nih.gov/tools/primer-blast/ (дата обращения: 20.03.2016).; Viaggi CD, Cavani S, Malacarne M et al. First-trimester euploid miscarriages analysed by array-CGH. J Appl Genetics. 2013;54(3):353-359.
-
2Academic Journal
Συγγραφείς: A. A. Kashevarova, E. O. Belyaeva, A. M. Nikonov, O. V. Plotnikova, I. G. Gergert, T. V. Nikitina, N. A. Skryabin, S. A. Vasilyev, M. E. Lopatkina, A. V. Churilova, E. N. Tolmacheva, L. P. Nazarenko, I. N. Lebedev, А. А. Кашеварова, Е. О. Беляева, А. М. Никонов, О. В. Плотникова, И. Г. Гергерт, Т. В. Никитина, Н. А. Скрябин, С. А. Васильев, М. Е. Лопаткина, А. В. Чурилова, Е. Н. Толмачева, Л. П. Назаренко, И. Н. Лебедев
Πηγή: Medical Genetics; Том 16, № 11 (2017); 46-50 ; Медицинская генетика; Том 16, № 11 (2017); 46-50 ; 2073-7998
Θεματικοί όροι: triplication, 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
Περιγραφή αρχείου: 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.
Διαθεσιμότητα: https://www.medgen-journal.ru/jour/article/view/348
-
3Academic Journal
Συγγραφείς: T. V. Nikitina, А. А. Kashevarova, N. А. Skryabin, N. N. Chechetkina, А. А. Melnikov, I. N. Lebedev, Т. В. Никитина, А. А. Кашеварова, Н. А. Скрябин, Н. Н. Чечеткина, И. Н. Лебедев, А. А. Мельников
Πηγή: Medical Genetics; Том 12, № 1 (2013); 26-35 ; Медицинская генетика; Том 12, № 1 (2013); 26-35 ; 2073-7998
Θεματικοί όροι: вариации крупных блоков повторов (CNV), spontaneous abortions, array-based comparative genomic hybridization (aCGH), copy number variations (CNV), спонтанные аборты, матричная сравнительная геномная гибридизация (aCGH)
Περιγραφή αρχείου: application/pdf
Relation: https://www.medgen-journal.ru/jour/article/view/22/70; Ворсанова С.Г., Юров И.Ю., Колотий А.Д., Береше-ва А.К., Демидова И.А., Куринная О.С., Кравец B.C., Монахов В.В., Соловьев И.В., Юров Ю.Б. Хромосомный мозаицизм в материале спонтанных абортов: интерфазный молекулярно-цитогенетический анализ 650 случаев // Генетика. — 2010. — Т. 46, №10. — С. 1356—1359.; Лебедев И.Н., Островерхова Н.В., Никитина Т.В., Суханова Н.Н., Назаренко С.А. Молекулярно-цитогенетическая характеристика хромосомного дисбаланса в клетках спонтанных абортусов с низкой пролиферативной активностью in vitro // Генетика. — 2003. — Т. 39, №8. — С. 1112—1122.; Суханова Н.Н., Лебедев И.Н., Никитина Т.В., Саженова Е.А., Назаренко С.А. Структура хромосомных нарушений у 552 спонтанных абортусов Томской популяции // Медицинская генетика. — 2002. — Т. 1, №6. — С. 271—276.; Ballif B.C., Kashork C.D., Saleki R., Rorem E., Sundin K., Bejjani B.A., Shaffer L.G. Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization // Prenat. Diagn. — 2006. — Vol. 26. — P. 333—339.; Bell K.A., Van Deerlin P.G., Haddad B.R., Feinberg R.F. Cytogenetic diagnosis of «normal 46,XX» karyotypes in spontaneous abortions frequently may be misleading // Fertil. Steril. — 1999. — Vol. 71. — P. 334—341.; Benkhalifa M., Kasakyan S., Clement P., Baldi M., Tachdji-an G., Demirol A., Gurgan T., Fiorentino F., Mohammed M., Qumsiyeh M.B. Array comparative genomic hybridization profiling of first-trimester spontaneous abortions that fail to grow in vitro // Prenat. Diagn. — 2005. — Vol. 25. — P. 894—900.; Borovic C.L., Perez A.B., da Silva L.R.J., Krepischi-Sanr tos A.C.V., Costa S.S., Rosenberg C. Array-CGH testing in spontaneous abortions with normal karyotypes // Genet. Mol. Biol. — 2008. — Vol. 31, №2. — P. 416—422.; Cartegni L., Chew S.L., Krainer A.R. Listening to silence and understanding nonsense: exonic mutations that affect splicing // Nat. Rev. Genet. — 2002. — Vol. 3, №4. — P. 285—298.; Ceulemans S., van der Ven K., Del-Favero J. Targeted screening and validation of copy number variations // Methods Mol. Biol. — 2012. — Vol. 838. — P. 311—328.; Conrad D.F., Andrews T.D., Carter N.P., Hurles M.E., Pritchard J.K. Articles Legal documents include patentsinclude citations 12. Advanced searchCreate alert My Citations Settings A high-resolution survey of deletion polymorphism in the human genome // Nat. Genet. — 2006. — Vol. 38, №1. — P. 75—81.; Desphande M., Harper J., HoUoway M., Palmer R., Wang R. Evaluation of array comparative genomic hybridization for genetic analysis of chorionic villus sampling from pregnancy loss in comparison to karyotyping and multiplex ligation-dependent probe amplification // Genet. Test. Mol. Biomarkers. — 2010. — Vol. 14, №3. — P. 421—424.; de Smith A.J., Walters R.G., Froguel P., Blakemore A.I. Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease // Cytogenet. Genome Res. — 2008. — Vol. 123. — P. 17—26.; Diego-Alvarez M., de Alba R., Cardero-Merlo R., Diaz-Re-carens J., Ayuso C., Ramos C., Lorda-sanchez I. MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages. // Prenat. Diagn. — 2007. — Vol. 27. — P. 765—771.; Eiben B., Bartels I., Bahr-Porsch S., Borgmann S., Gatz G., GeUert G., Goebel R., Hammans W., Hentemann M., Osmers R. Cytogenetic analysis of 750 spontaneous abortions with the di-rect-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage // Am. J. Hum. Genet. — 1990. — Vol. 47. — P. 656—663.; Feuk L., Carson A.R., Scherer S.W. Structural variation in the human genome // Nat. Rev. Genet. — 2006. — Vol. 7, №2. — P. 85—97.; Fritz B., Hallermann C., Olert J., Fuchs B., Bruns M., Aslan M., Schmidt S., Coerdt W., Muntefering H., Rehder H. Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)-Re-evaluation of chromosome aberration rates in early spontaneous abortions. // Eur. J. Hum. Genet. — 2001. — Vol. 9. — P. 539—547.; Gao J., Liu C., Yao F., Hao N., Zhou J., Zhou Q., Zhang L., Liu X., Bian X., Liu J. Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion // Mol. Cytogenet. — 2012. — Vol. 16, №5. doi:10.1186/1755-8166-5-33.; Goddijn M., Leschot N.J. Genetic aspects of miscarriage // Bamieres Best Pract. Res. Clin. Obstet. Gynaecol. — 2000. — Vol. 14. — P. 855—865.; Jobanputra V., Esteves C., Sobrino A., Brown S., Kline J., Warburton D. Using FISH to increase the yield and accuracy of karyotypes from spontaneous abortion specimens // Prenat. Diagnosis. — 2011. — Vol. 31. — P. 755—759.; Lebedev I.N. Mosaic aneuploidy in early fetal loss // Cytogenet. Genome Research. — 2011. — Vol. 133, №2—4. — P. 169—183.; Menten B., Swerts K., DeUe Chiaie B., Janssens S., Buys-se K., Phillipe J., Speleman F. Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples // BMC Med. Genet. — 2009. — Vol. 14. — P. 89—93.; Menasha J., Llevy B., Hirschhorn K., Kardon N.B. Incidence and spectrum of chromosome abnormalities in spontaneous abortions: new insights from 12-year study // Genetics in Medicine. — 2005. — Vol. 7, №4. — P. 251—263.; Nikitina T.V., Lebedev I.N., Sukhanova N.N., Sazheno-va E.A., Nazarenko S.A. A mathematical model for evaluation of maternal cell contamination in cultured cells from spontaneous abortions: significance for cytogenetic analysis of prenatal selection factors // Ferfflity Stormy. — 2005. — Vol. 83, №4. — P. 964—972.; Rai R., Regan L. Recurrent miscarriage // Lancet. — 2006. — Vol. 368. — P. 601—611.; Rajcan-Separovic E., Diego-alvarez D., Robinson W.P., Tyson C., Qiao Y., Harvard C., Fawcett C., Katousek D., Philipp T., Somerville M.J., Stephenson M.D. Identification of copy number variants in miscarriage from couples with idiopathic recurrent pregnancy loss // Hum. Reprod. — 2010. — Vol. 25. — P. 2913—2922.; Raican-Separovic E., Qiao Y., Tyson C., Harvard C., Fawcett C., Kalousek D., Stephenson M., Philipp T. Genomic changes detected by array CGH in human embryos with developmental defects // Mol. Hum. Reprod. — 2010. — Vol. 16. — P. 125—134.; Robberecht C., Schuddinck V., Fryns J.P., Vermeesch J.R. Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls // Genet. Med. — 2009. — Vol. 11. — P. 646—654.; Robberecht C., Pexsters A., Deprest J., Fryns J.P., D’Hoog-he T., Vermeesch J.R. Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from coupl es with recurrent pregnancy loss // Prenat. Diagn. — 2012. — Vol. 4. — P. 1-10. doi:10.1002/pd.3936.; Schaeffer A.J., Chung J., Heretis K., Wong A., Ledbetter D.H., Lese M.C. Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages // Am. J. Hum. Genet. — 2004. — Vol. 74. — P. 1168—1174.; Scott S.A., Cohen N., Brandt T., Toruner G., Desnick R.J., Edelmann L. Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization // Genet. Med. — 2010. — Vol. 12, №2. — P. 85—92.; Shearer B.M., Thorknd E.C., Carlton A.W., Jakl S.M., Ketterling R.P. Reflex fluorescent in situ hybridization testing for unsuccessful product of conception cultures: a retrospective analysis of 5555 samples attempted by conventional cytogenetics and fluorescent in situ hybridization // Genet. Med. — 2011. — Vol. 13. — P. 545—552.; Shimokawa O., Harada N., Miyake N., Satoh K., Mizuguc-hi T., Niikawa N., Matsumoto N. Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with «normal» ka^orjfpes // Am. J. Med. Genet. — 2006. — Vol. 140. — P. 1931—1935.; Solinas-Toldo S., Lampel S., Stilgenbauer S., Nickolenko J., Benner A., Dchner H., Cremer T., Lichter P. Matrix-based comparative genomic hybridization: Biochips to screen for genomic imbalances // Genes, Chromoromes and Cancer. — 1997. — Vol. 20, №4. — P. 399—407.; Stranger B.E., Forrest M.S., Dunning M., Ingle C.E., Beaz-ley C., Thorne N., Redon R., Bird C.P., de Grassi A., Lee C., Ty-ler-Smith C., Carter N., Scherer S.W., Tavare S., Deloukas P., Hur-les M.E., Dermitzakis E.T. Relative impact of nucleotide and copy number variation on gene expression phenotypes // Science. — 2007. — Vol. 315. — P. 848—853.; van den Berg M.M., van Maarle M.C., van Wefy M., God-dijn M. Genetics of early miscarriage // Biochim Biophys Acta. — 2012. — doi:10.1016/ j.bbadis.2012.07.001.; Zhang Y.X., Zhang Y.P., Gu Y., Guan F.J., Li S.L., Xie J.S., Shen Y., Wu B.L., Ju W., Jenkins E.C., Brown W.T., Zhong N. Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and array CGH // Clin. Genet. — 2009. — Vol. 75. — P. 133—140.; Warren J.E., Turok D.K., Maxwell T.M., Brothman A.R., Silver R.M. Array comparative genomic hybridization for genetic evaluation of fetal loss between 10 and 20 weeks of gestation // Ob-stet. Gynecol. — 2009. — Vol. 114. — P. 1093—1102.