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Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic DisordersObstetrics and gynecology (New York. 1953), 2016-05, Vol.127 (5), p.e108-e122 [Periódico revisado por pares]United States: by The American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. All rights reservedTexto completo disponível |
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Inherent mosaicism and extensive mutation of human placentasCoorens, Tim H H ; Oliver, Thomas R W ; Sanghvi, Rashesh ; Sovio, Ulla ; Cook, Emma ; Vento-Tormo, Roser ; Haniffa, Muzlifah ; Young, Matthew D ; Rahbari, Raheleh ; Sebire, Neil ; Campbell, Peter J ; Charnock-Jones, D Stephen ; Smith, Gordon C S ; Behjati, SamNature (London), 2021-04, Vol.592 (7852), p.80-85 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromesLiang, Desheng ; Cram, David S. ; Tan, Hu ; Linpeng, Siyuan ; Liu, Yingdi ; Sun, Huaiyu ; Zhang, Yu ; Tian, Feng ; Zhu, Hongmin ; Xu, Mengnan ; Wang, Hua ; Yu, Fuli ; Wu, LingqianGenetics in medicine, 2019-09, Vol.21 (9), p.1998-2006 [Periódico revisado por pares]United States: Elsevier IncSem texto completo |
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Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)Dungan, Jeffrey S. ; Klugman, Susan ; Darilek, Sandra ; Malinowski, Jennifer ; Akkari, Yassmine M.N. ; Monaghan, Kristin G. ; Erwin, Angelika ; Best, Robert G.Genetics in medicine, 2023-02, Vol.25 (2), p.100336-100336, Article 100336 [Periódico revisado por pares]United States: Elsevier IncSem texto completo |
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Prognostic and Pharmacotypic Heterogeneity of Hyperdiploidy in Childhood ALLLee, Shawn H R ; Ashcraft, Emily ; Yang, Wenjian ; Roberts, Kathryn G ; Gocho, Yoshihiro ; Rowland, Lauren ; Inaba, Hiroto ; Karol, Seth E ; Jeha, Sima ; Crews, Kristine R ; Mullighan, Charles G ; Relling, Mary V ; Evans, William E ; Cheng, Cheng ; Yang, Jun J ; Pui, Ching-HonJournal of clinical oncology, 2023-12, Vol.41 (35), p.5422-5432 [Periódico revisado por pares]United StatesSem texto completo |
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Somatic Activation of AKT3 Causes Hemispheric Developmental Brain MalformationsPoduri, Annapurna ; Evrony, Gilad D. ; Cai, Xuyu ; Elhosary, Princess Christina ; Beroukhim, Rameen ; Lehtinen, Maria K. ; Hills, L. Benjamin ; Heinzen, Erin L. ; Hill, Anthony ; Hill, R. Sean ; Barry, Brenda J. ; Bourgeois, Blaise F.D. ; Riviello, James J. ; Barkovich, A. James ; Black, Peter M. ; Ligon, Keith L. ; Walsh, Christopher A.Neuron (Cambridge, Mass.), 2012-04, Vol.74 (1), p.41-48 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Analysis of cell‐free DNA in maternal blood in screening for fetal aneuploidies: updated meta‐analysisGil, M. M. ; Quezada, M. S. ; Revello, R. ; Akolekar, R. ; Nicolaides, K. H.Ultrasound in obstetrics & gynecology, 2015-03, Vol.45 (3), p.249-266 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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The presence of extra chromosomes leads to genomic instabilityPasserini, Verena ; Ozeri-Galai, Efrat ; de Pagter, Mirjam S ; Donnelly, Neysan ; Schmalbrock, Sarah ; Kloosterman, Wigard P ; Kerem, Batsheva ; Storchová, ZuzanaNature communications, 2016-02, Vol.7 (1), p.10754-10754, Article 10754 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Phenotypic and genetic analysis of a child with partial trisomy 7qWang, Chaojie ; Li, Dongxiao ; Zhang, Yaodong ; Kong, Jinghui ; Li, Rui ; Gao, Chao ; Shang, Qing ; Zhang, HuichunZhonghua yi xue yi chuan xue za zhi, 2023-05, Vol.40 (5), p.604ChinaSem texto completo |
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Non‐invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnanciesZhang, H. ; Gao, Y. ; Jiang, F. ; Fu, M. ; Yuan, Y. ; Guo, Y. ; Zhu, Z. ; Lin, M. ; Liu, Q. ; Tian, Z. ; Zhang, H. ; Chen, F. ; Lau, T. K. ; Zhao, L. ; Yi, X. ; Yin, Y. ; Wang, W.Ultrasound in obstetrics & gynecology, 2015-05, Vol.45 (5), p.530-538 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |