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

Year Number of Results
1984 1
1987 1
1988 2
1989 1
1990 3
1991 2
1992 7
1993 10
1994 9
1995 12
1996 17
1997 18
1998 20
1999 16
2000 15
2001 15
2002 14
2003 13
2004 17
2005 24
2006 17
2007 24
2008 17
2009 16
2010 24
2011 27
2012 17
2013 20
2014 32
2015 26
2016 22
2017 18
2018 17
2019 24
2020 17
2021 22
2022 27
2023 16
2024 12

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542 results

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Page 1
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 …
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 function or o …
Three distinct neurodevelopmental disorders arise primarily from deletions or duplications that occur at the 15q11-q13 locus: Prader-Willi s …
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 …
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 …
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 …
Management of Sleep Disorders in Children With Neurodevelopmental Disorders: A Review.
Blackmer AB, Feinstein JA. Blackmer AB, et al. Pharmacotherapy. 2016 Jan;36(1):84-98. doi: 10.1002/phar.1686. Pharmacotherapy. 2016. PMID: 26799351 Review.
Examples of NDDs discussed in this review include autism spectrum disorder, cerebral palsy, Rett syndrome, Angelman syndrome, Williams syndrome, and Smith-Magenis syndrome. The etiology of sleep disorders in children with NDDs is largely heterogeneous and disease sp …
Examples of NDDs discussed in this review include autism spectrum disorder, cerebral palsy, Rett syndrome, Angelman syndrome, …
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.
DNA methylation analysis is the only technique that will diagnose PWS in all three molecular genetic classes and differentiate PWS from Angelman syndrome. Clinical manifestations change with age with hypotonia and a poor suck resulting in failure to thrive during in …
DNA methylation analysis is the only technique that will diagnose PWS in all three molecular genetic classes and differentiate PWS from A …
Angelman syndrome.
Kyllerman M. Kyllerman M. Handb Clin Neurol. 2013;111:287-90. doi: 10.1016/B978-0-444-52891-9.00032-4. Handb Clin Neurol. 2013. PMID: 23622177 Review.
Angelman syndrome combines severe mental retardation, epilepsy, ataxia, speech impairment, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and sleep disturbance. ...
Angelman syndrome combines severe mental retardation, epilepsy, ataxia, speech impairment, and unique behavior with happy deme …
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 …
Russell-Silver syndrome.
Eggermann T. Eggermann T. Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. Am J Med Genet C Semin Med Genet. 2010. PMID: 20803658 Review.
In comparison to Prader-Willi or Angelman syndrome, Russell-Silver syndrome (RSS) is a relatively "young" imprinting disorder. ...
In comparison to Prader-Willi or Angelman syndrome, Russell-Silver syndrome (RSS) is a relatively "young" imprinting disorder. …
542 results