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8. Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders. LaSalle JM; Reiter LT; Chamberlain SJ Epigenomics; 2015 Oct; 7(7):1213-28. PubMed ID: 26585570 [TBL] [Abstract][Full Text] [Related]
9. Persistent neuronal Ube3a expression in the suprachiasmatic nucleus of Angelman syndrome model mice. Jones KA; Han JE; DeBruyne JP; Philpot BD Sci Rep; 2016 Jun; 6():28238. PubMed ID: 27306933 [TBL] [Abstract][Full Text] [Related]
10. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Albrecht U; Sutcliffe JS; Cattanach BM; Beechey CV; Armstrong D; Eichele G; Beaudet AL Nat Genet; 1997 Sep; 17(1):75-8. PubMed ID: 9288101 [TBL] [Abstract][Full Text] [Related]
11. Towards a therapy for Angelman syndrome by targeting a long non-coding RNA. Meng L; Ward AJ; Chun S; Bennett CF; Beaudet AL; Rigo F Nature; 2015 Feb; 518(7539):409-12. PubMed ID: 25470045 [TBL] [Abstract][Full Text] [Related]
12. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Matsuura T; Sutcliffe JS; Fang P; Galjaard RJ; Jiang YH; Benton CS; Rommens JM; Beaudet AL Nat Genet; 1997 Jan; 15(1):74-7. PubMed ID: 8988172 [TBL] [Abstract][Full Text] [Related]
13. A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome. Geerts-Haages A; Bossuyt SNV; den Besten I; Bruggenwirth H; van der Burgt I; Yntema HG; Punt AM; Brooks A; Elgersma Y; Distel B; Valstar M Mol Genet Genomic Med; 2020 Nov; 8(11):e1481. PubMed ID: 32889787 [TBL] [Abstract][Full Text] [Related]
14. Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model. Meng L; Person RE; Huang W; Zhu PJ; Costa-Mattioli M; Beaudet AL PLoS Genet; 2013; 9(12):e1004039. PubMed ID: 24385930 [TBL] [Abstract][Full Text] [Related]
15. Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Samaco RC; Hogart A; LaSalle JM Hum Mol Genet; 2005 Feb; 14(4):483-92. PubMed ID: 15615769 [TBL] [Abstract][Full Text] [Related]
16. Ube3a imprinting impairs circadian robustness in Angelman syndrome models. Shi SQ; Bichell TJ; Ihrie RA; Johnson CH Curr Biol; 2015 Mar; 25(5):537-45. PubMed ID: 25660546 [TBL] [Abstract][Full Text] [Related]
18. Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning. Gomez DA; Bird LM; Fleischer N; Abdul-Rahman OA Am J Med Genet A; 2020 Sep; 182(9):2021-2026. PubMed ID: 32524756 [TBL] [Abstract][Full Text] [Related]
19. Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model. Silva-Santos S; van Woerden GM; Bruinsma CF; Mientjes E; Jolfaei MA; Distel B; Kushner SA; Elgersma Y J Clin Invest; 2015 May; 125(5):2069-76. PubMed ID: 25866966 [TBL] [Abstract][Full Text] [Related]
20. Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature. Aguilera C; Viñas-Jornet M; Baena N; Gabau E; Fernández C; Capdevila N; Cirkovic S; Sarajlija A; Miskovic M; Radivojevic D; Ruiz A; Guitart M BMC Med Genet; 2017 Nov; 18(1):137. PubMed ID: 29162042 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]