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1987 5
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1989 11
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1993 63
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1995 38
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1999 60
2000 49
2001 61
2002 50
2003 54
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1,985 results
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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 …
Angelman syndrome - insights into a rare neurogenetic disorder.
Buiting K, Williams C, Horsthemke B. Buiting K, et al. Nat Rev Neurol. 2016 Oct;12(10):584-93. doi: 10.1038/nrneurol.2016.133. Epub 2016 Sep 12. Nat Rev Neurol. 2016. PMID: 27615419 Review.
Angelman syndrome is a rare neurogenetic disorder that is characterized by microcephaly, severe intellectual deficit, speech impairment, epilepsy, EEG abnormalities, ataxic movements, tongue protrusion, paroxysms of laughter, abnormal sleep patterns, and hyperactivi
Angelman syndrome is a rare neurogenetic disorder that is characterized by microcephaly, severe intellectual deficit, speech i
Angelman Syndrome: Identification and Management.
Bonello D, Camilleri F, Calleja-Agius J. Bonello D, et al. Neonatal Netw. 2017 May 1;36(3):142-151. doi: 10.1891/0730-0832.36.3.142. Neonatal Netw. 2017. PMID: 28494826 Review.
Angelman syndrome (AS) is a neurobehavioral and genetically determined condition, which affects approximately 1 in 15,000 individuals. ...
Angelman syndrome (AS) is a neurobehavioral and genetically determined condition, which affects approximately 1 in 15,000 indi
Communication in Angelman syndrome: a scoping review.
Pearson E, Wilde L, Heald M, Royston R, Oliver C. Pearson E, et al. Dev Med Child Neurol. 2019 Nov;61(11):1266-1274. doi: 10.1111/dmcn.14257. Epub 2019 May 10. Dev Med Child Neurol. 2019. PMID: 31074506 Free article. Review.
AIM: A scoping review was conducted to examine and evaluate empirical data on the communication profile of Angelman syndrome beyond the described dissociation between receptive language and speech. ...The use of communicative forms differs between the genetic aetiol …
AIM: A scoping review was conducted to examine and evaluate empirical data on the communication profile of Angelman syndrome b …
Neurologic manifestations of Angelman syndrome.
Thibert RL, Larson AM, Hsieh DT, Raby AR, Thiele EA. Thibert RL, et al. Pediatr Neurol. 2013 Apr;48(4):271-9. doi: 10.1016/j.pediatrneurol.2012.09.015. Pediatr Neurol. 2013. PMID: 23498559 Review.
Angelman syndrome is a neurogenetic disorder characterized by the loss or reduction of the ubiquitin-protein ligase E3A enzyme. ...We focus on a comprehensive whole-child approach to the diagnosis and long-term clinical care of individuals with Angelman sy
Angelman syndrome is a neurogenetic disorder characterized by the loss or reduction of the ubiquitin-protein ligase E3A enzyme
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: Current and emerging therapies in 2016.
Tan WH, Bird LM. Tan WH, et al. Am J Med Genet C Semin Med Genet. 2016 Dec;172(4):384-401. doi: 10.1002/ajmg.c.31536. Epub 2016 Nov 8. Am J Med Genet C Semin Med Genet. 2016. PMID: 27860204 Review.
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by a loss of the maternally-inherited UBE3A; the paternal UBE3A is silenced in neurons by a mechanism involving an antisense transcript (UBE3A-AS) at the unmethylated paternal locus. ...
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by a loss of the maternally-inherited UBE3A; the paterna
Myoclonus in Angelman syndrome.
Pollack SF, Grocott OR, Parkin KA, Larson AM, Thibert RL. Pollack SF, et al. Epilepsy Behav. 2018 May;82:170-174. doi: 10.1016/j.yebeh.2018.02.006. Epub 2018 Mar 17. Epilepsy Behav. 2018. PMID: 29555100
Angelman syndrome (AS) is a neurogenetic imprinting disorder caused by loss of the maternally inherited Ube3a gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. ...Additionally, there have been ra
Angelman syndrome (AS) is a neurogenetic imprinting disorder caused by loss of the maternally inherited Ube3a gene and is char
Prenatal treatment path for angelman syndrome and other neurodevelopmental disorders.
Zylka MJ. Zylka MJ. Autism Res. 2020 Jan;13(1):11-17. doi: 10.1002/aur.2203. Epub 2019 Sep 6. Autism Res. 2020. PMID: 31490639 Free PMC article. Review.
Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by mutation or deletion of the maternally inherited UBE3A allele. ...LAY SUMMARY: Prenatal treatment could benefit expectant parents whose babies test positive for the chromosome microdeletion that
Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by mutation or deletion of the maternally inherited UBE3A
Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes.
Frohlich J, Miller MT, Bird LM, Garces P, Purtell H, Hoener MC, Philpot BD, Sidorov MS, Tan WH, Hernandez MC, Rotenberg A, Jeste SS, Krishnan M, Khwaja O, Hipp JF. Frohlich J, et al. Biol Psychiatry. 2019 May 1;85(9):752-759. doi: 10.1016/j.biopsych.2019.01.008. Epub 2019 Jan 19. Biol Psychiatry. 2019. PMID: 30826071 Free PMC article.
BACKGROUND: Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by either disruptions of the gene UBE3A or deletion of chromosome 15 at 15q11-q13, which encompasses UBE3A and several other genes, including GABRB3, GABRA5, GABRG3, encoding gamma-ami …
BACKGROUND: Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by either disruptions of the gene UBE3A or d …
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