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Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratoryPetersen, Andrea K. ; Cheung, Sau Wai ; Smith, Janice L. ; Bi, Weimin ; Ward, Patricia A. ; Peacock, Sandra ; Braxton, Alicia ; Van Den Veyver, Ignatia B. ; Breman, Amy M.American journal of obstetrics and gynecology, 2017-12, Vol.217 (6), p.691.e1-691.e6 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Towards a therapy for Angelman syndrome by targeting a long non-coding RNAMeng, Linyan ; Ward, Amanda J ; Chun, Seung ; Bennett, C Frank ; Beaudet, Arthur L ; Rigo, FrankNature (London), 2015-02, Vol.518 (7539), p.409-412 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Cas9 gene therapy for Angelman syndrome traps Ube3a-ATS long non-coding RNAWolter, Justin M ; Mao, Hanqian ; Fragola, Giulia ; Simon, Jeremy M ; Krantz, James L ; Bazick, Hannah O ; Oztemiz, Baris ; Stein, Jason L ; Zylka, Mark JNature (London), 2020-11, Vol.587 (7833), p.281-284 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome modelSilva-Santos, Sara ; van Woerden, Geeske M ; Bruinsma, Caroline F ; Mientjes, Edwin ; Jolfaei, Mehrnoush Aghadavoud ; Distel, Ben ; Kushner, Steven A ; Elgersma, YpeThe Journal of clinical investigation, 2015-05, Vol.125 (5), p.2069-2076 [Periódico revisado por pares]United States: American Society for Clinical InvestigationTexto completo disponível |
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Material Type: Artigo
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Angelman syndrome: a journey through the brainMaranga, Carina ; Fernandes, Tiago G. ; Bekman, Evguenia ; da Rocha, Simão TeixeiraThe FEBS journal, 2020-06, Vol.287 (11), p.2154-2175 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Transcriptional reprogramming restores UBE3A brain-wide and rescues behavioral phenotypes in an Angelman syndrome mouse modelO’Geen, Henriette ; Beitnere, Ulrika ; Garcia, Miranda S. ; Adhikari, Anna ; Cameron, David L. ; Fenton, Timothy A. ; Copping, Nycole A. ; Deng, Peter ; Lock, Samantha ; Halmai, Julian A.N.M. ; Villegas, Isaac J. ; Liu, Jiajian ; Wang, Danhui ; Fink, Kyle D. ; Silverman, Jill L. ; Segal, David J.Molecular therapy, 2023-04, Vol.31 (4), p.1088-1105 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Angelman Syndrome: From Mouse Models to TherapyRotaru, Diana C. ; Mientjes, Edwin J. ; Elgersma, YpeNeuroscience, 2020-10, Vol.445, p.172-189 [Periódico revisado por pares]United States: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Functional rescue in an Angelman syndrome model following treatment with lentivector transduced hematopoietic stem cellsAdhikari, Anna ; Copping, Nycole A ; Beegle, Julie ; Cameron, David L ; Deng, Peter ; O’Geen, Henriette ; Segal, David J ; Fink, Kyle D ; Silverman, Jill L ; Anderson, Joseph SHuman molecular genetics, 2021-06, Vol.30 (12), p.1067-1083 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Electrophysiological Phenotype in Angelman Syndrome Differs Between GenotypesFrohlich, Joel ; Miller, Meghan T. ; Bird, Lynne M. ; Garces, Pilar ; Purtell, Hannah ; Hoener, Marius C. ; Philpot, Benjamin D. ; Sidorov, Michael S. ; Tan, Wen-Hann ; Hernandez, Maria-Clemencia ; Rotenberg, Alexander ; Jeste, Shafali S. ; Krishnan, Michelle ; Khwaja, Omar ; Hipp, Joerg F.Biological psychiatry (1969), 2019-05, Vol.85 (9), p.752-759 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model miceGu, Bin ; Carstens, Kelly E ; Judson, Matthew C ; Dalton, Katherine A ; Rougié, Marie ; Clark, Ellen P ; Dudek, Serena M ; Philpot, Benjamin DThe Journal of clinical investigation, 2019-01, Vol.129 (1), p.163-168 [Periódico revisado por pares]United States: American Society for Clinical InvestigationTexto completo disponível |