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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1987 1
1988 2
1990 2
1991 1
1992 4
1993 12
1994 7
1995 4
1996 13
1997 14
1998 11
1999 17
2000 16
2001 19
2002 12
2003 13
2004 6
2005 22
2006 13
2007 12
2008 15
2009 15
2010 18
2011 13
2012 11
2013 21
2014 10
2015 16
2016 14
2017 11
2018 8
2019 13
2020 17
2021 18
2022 11
2023 10
2024 3

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397 results

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Page 1
Angelman syndrome: a journey through the brain.
Maranga C, Fernandes TG, Bekman E, da Rocha ST. Maranga C, et al. FEBS J. 2020 Jun;287(11):2154-2175. doi: 10.1111/febs.15258. Epub 2020 Mar 14. FEBS J. 2020. PMID: 32087041 Free article. Review.
Angelman syndrome (AS) is an incurable neurodevelopmental disease caused by loss of function of the maternally inherited UBE3A gene. ...
Angelman syndrome (AS) is an incurable neurodevelopmental disease caused by loss of function of the maternally inherited UBE3A
Angelman Syndrome.
Margolis SS, Sell GL, Zbinden MA, Bird LM. Margolis SS, et al. Neurotherapeutics. 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y. Neurotherapeutics. 2015. PMID: 26040994 Free PMC article. Review.
In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. ...
In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnin …
Epilepsy in Angelman syndrome: A scoping review.
Samanta D. Samanta D. Brain Dev. 2021 Jan;43(1):32-44. doi: 10.1016/j.braindev.2020.08.014. Epub 2020 Sep 4. Brain Dev. 2021. PMID: 32893075 Free PMC article. Review.
Angelman Syndrome (AS) is characterized by severe developmental delays including marked speech impairment, movement abnormalities(ataxia, tremor), and unique behaviors such as frequent laughter and is caused by dysfunctional maternal UBE3A gene (maternal 15q11-13 de
Angelman Syndrome (AS) is characterized by severe developmental delays including marked speech impairment, movement abnormalit
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.
Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus KGCB, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson A. Duis J, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1843. doi: 10.1002/mgg3.1843. Epub 2022 Feb 11. Mol Genet Genomic Med. 2022. PMID: 35150089 Free PMC article. Review.
BACKGROUND: Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal electroencephalograp …
BACKGROUND: Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and character …
Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes.
Kalsner L, Chamberlain SJ. Kalsner L, et al. Pediatr Clin North Am. 2015 Jun;62(3):587-606. doi: 10.1016/j.pcl.2015.03.004. Epub 2015 Apr 22. Pediatr Clin North Am. 2015. PMID: 26022164 Free PMC article. Review.
Three distinct neurodevelopmental disorders arise primarily from deletions or duplications that occur at the 15q11-q13 locus: Prader-Willi syndrome, Angelman syndrome, and 15q11-q13 duplication syndrome. Each of these disorders results from the loss of …
Three distinct neurodevelopmental disorders arise primarily from deletions or duplications that occur at the 15q11-q13 locus: Prader-Willi …
Imprinting disorders in humans: a review.
Butler MG. Butler MG. Curr Opin Pediatr. 2020 Dec;32(6):719-729. doi: 10.1097/MOP.0000000000000965. Curr Opin Pediatr. 2020. PMID: 33148967 Free PMC article. Review.
Many imprinted genes affect fetal growth and development accounting for several human disorders reviewed in this report. RECENT FINDINGS: Disorders include Prader-Willi and Angelman syndromes, the first examples of imprinting errors in humans, chromosome 15q11.2-q13.3 dupl …
Many imprinted genes affect fetal growth and development accounting for several human disorders reviewed in this report. RECENT FINDINGS: Di …
Genotype-Phenotype Correlations in Angelman Syndrome.
Yang L, Shu X, Mao S, Wang Y, Du X, Zou C. Yang L, et al. Genes (Basel). 2021 Jun 28;12(7):987. doi: 10.3390/genes12070987. Genes (Basel). 2021. PMID: 34203304 Free PMC article. Review.
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubiquitin-protein ligase E3A (UBE3A) on the chromosome 15q11-13 region. ...
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubi
Current and emerging treatment options for Angelman syndrome.
Keary CJ, McDougle CJ. Keary CJ, et al. Expert Rev Neurother. 2023 Jul-Dec;23(9):835-844. doi: 10.1080/14737175.2023.2245568. Epub 2023 Aug 21. Expert Rev Neurother. 2023. PMID: 37599585 Review.
INTRODUCTION: Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, limited expressive language, epilepsy, and motor impairment. Angelman syndrome is caused by haploinsufficiency of the UBE3A gene on the mate …
INTRODUCTION: Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, limited expres …
Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.
Angulo MA, Butler MG, Cataletto ME. Angulo MA, et al. J Endocrinol Invest. 2015 Dec;38(12):1249-63. doi: 10.1007/s40618-015-0312-9. Epub 2015 Jun 11. J Endocrinol Invest. 2015. PMID: 26062517 Free PMC article. Review.
INTRODUCTION: Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. ...DNA methylation analysis is the only technique that will diagnose PWS in all three mole …
INTRODUCTION: Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by lack of expression of genes on the pa …
Human cerebral organoids - a new tool for clinical neurology research.
Eichmüller OL, Knoblich JA. Eichmüller OL, et al. Nat Rev Neurol. 2022 Nov;18(11):661-680. doi: 10.1038/s41582-022-00723-9. Epub 2022 Oct 17. Nat Rev Neurol. 2022. PMID: 36253568 Free PMC article. Review.
We discuss different methodologies for producing organoids and how organoids can be and have been used to model neurological disorders, including microcephaly, Zika virus infection, Alzheimer disease and other neurodegenerative disorders, and neurodevelopmental diseases, such as …
We discuss different methodologies for producing organoids and how organoids can be and have been used to model neurological disorders, incl …
397 results