ReviewEuropean journal of human genetics : EJHG2009
Angelman syndrome (AS, MIM 105830).
Review in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
34 citing papers in PubMed, 170 citations in OpenAlex.
- A xenotransplantation model for reactivation of paternal UBE3A using human-specific antisense oligonucleotides.Scientific reports · 2026Article
- Association Between Challenging Behaviour and Sleep Problems in Adults Enrolled in the Global Angelman Syndrome Registry.Journal of autism and developmental disorders · 2025Article
- Increased Extra-Axial Cerebrospinal Fluid Volume in Children with Angelman Syndrome: Links to Sleep Problems and Seizures.Annals of the Child Neurology Society · 2025Article
- Relationship between strabismus associated with Angelman syndrome and orbital anomaly.Japanese journal of ophthalmology · 2024Article
- Effects of UBE3A on Cell and Liver Metabolism through the Ubiquitination of PDHA1 and ACAT1.Biochemistry · 2023Article
- Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans.HGG advances · 2022Article
- Telehealth Training in Naturalistic Communication Intervention for Mothers of Children with Angelman Syndrome.Advances in neurodevelopmental disorders · 2022Article
- Identification of key biomarkers in Angelman syndrome by a multi-cohort analysis.Frontiers in medicine · 2022Article
- Review
- Ocular findings and strabismus surgery outcomes in Chinese children with Angelman syndrome: Three case reports.Medicine · 2019Review
- High Frequency of Imprinted Methylation Errors in Human Preimplantation Embryos.Scientific reports · 2015Article
- Angelman syndrome and isovaleric acidemia: What is the link?Molecular genetics and metabolism reports · 2015Article
- Angelman syndrome in adulthood.American journal of medical genetics. Part A · 2015Article
- Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization.Molecular cytogenetics · 2015Article
- Recurrence of Angelman syndrome in siblings: challenges in genetic counseling.Indian journal of pediatrics · 2014Article
- Angelman syndrome: review of clinical and molecular aspects.The application of clinical genetics · 2014Review
- Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13.Case reports in genetics · 2014Article
- Epigenetics, autism spectrum, and neurodevelopmental disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2013Review
- Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns.Molecular genetics & genomic medicine · 2013Article
- E3 ubiquitin ligase E6AP negatively regulates adipogenesis by downregulating proadipogenic factor C/EBPalpha.PloS one · 2013Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Angelman syndrome (AS) is a distinct neurogenetic syndrome, first described in 1965. The phenotype is well known in infancy and adulthood, but the clinical features may change with age. The main clinical characteristics include severe mental retardation, epileptic seizures and EEG abnormalilties, neurological problems and distinct facial dysmorphic features. Behavioural problems such as hyperactivity and sleeping problems are reported, although these patients present mostly a happy personality with periods of inappropriate laughter. Different underlying genetic mechanisms may cause AS, with deletion of chromosome 15 as the most frequent cause. Other genetic mechanisms such as paternal uniparental disomy, imprinting defect and mutation in the UBE3A gene are present in smaller groups of patients with AS. As the recurrence risk can be up to 50%, the clinical diagnosis of AS should be confirmed by laboratory tesing, and genetic counselling should be provided. Treatment of seizures, physical therapy or other intervention strategies are helpful to ameliorate the symptoms.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.