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Note: Hyperlinks redirect to the Pubmed web site in which the article is cited. PubMed is a service of the U.S. National Library of Medicine that includes over 18 million citations from MEDLINE and other life science journals for biomedical articles back to the 1950s. PubMed includes links to full text articles and other related resources. Some newer articles may not be free to the public. However, by clicking the related items link, less recent articles will display that are more likely to be available for down load.

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As of February 2011 there are 1125 articles for "Angelman Syndrome" in Pubmed.. To see a comparison with other syndromes and conditions, click here. For ease of viewing, we have listed the last four years of relevant published articles and categorized them into reports on humans versus studies in animal models. This list will be periodically updated as new studies are published.

Human

Descriptions, identification, and diagnostics:

• Angelman syndrome: Mutations influence features in early childhood.
  PMID:21204213
  
  
• Novel deletion of the E3Aubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome.
  PMID:21072004
  
  
• Genetic and clinical study on 17 cases of Angelman syndrome with deletion of 15q11-13. (Chinese)
  PMID:21215190
  
  
• A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.
  PMID:20729760
  
  
• Prader-Willi syndrome and Angelman syndrome.
  PMID:20803659
  
  
• Angelman syndrome, a genomic imprinting disorder of the brain.
  PMID:20668179
  
  
• Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15
  PMID:20631049
  
  
• Quantitative 1-step DNA methylation analysis with native genomic DNA as template.
  PMID:20472822
  
  
• Methylation analysis by restriction endonuclease digestion and real-time PCR.
  PMID:20472820
  
  
• Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.
  PMID:20459762
  
  
• Clinical and genetic aspects of Angelman syndrome
  PMID:20445456
  
  
• Genomic imprinting: the influence of differential methylation in the two sexes
  PMID:20404028
  
  
• Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11-q13.
  PMID:20304067
  
  
• Angelman syndrome: current understanding and research prospects.
  PMID:19874386
  
  
• Genomic imprinting disorders in humans: a mini-review
  PMID:19844787
  
  
• Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population
  PMID:19708861
  
  
• Detection and discrimination between deletional and non-deletional Prader-Willi and Angelman syndromes by methylation-specific PCR and quantitative melting curve analysis
  PMID:19661385
  
  
• A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.
  PMID:19506092
  
  
• Angelman syndrome (AS, MIM 105830)
  PMID:19455185
  
  
• Genetic imprinting: the paradigm of Prader-Willi and Angelman syndromes
  PMID:19293572
  
  
• Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
  PMID:19278672
  
  
• Comparing two diagnostic laboratory tests for several microdeletions causing mental retardation syndromes: multiplex ligation-dependent amplification vs fluorescent in situ hybridization
  PMID:19262082
  
  
• Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR.
  PMID:19137525
  
  
• Functioning and disability in patients with Angelman syndrome: utility of the International Classification of functioning disability and health, children and youth adaptation framework.
  PMID:19968524
  
  
• A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15
  PMID:19053076
  
  
• A review of physical, behavioral, and oral characteristics associated with treacher Collins syndrome, Goldenhar syndrome, and Angelman syndrome.
  PMID:18683396
  
  
• Angelman syndrome: clinical findings and follow-up data of 14 patients.
  PMID:18664077
  
  
• Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities.
  PMID:18294067
  
  
• Prenatal testing for uniparental disomy: indications and clinical relevance.
  PMID:18294067
  
  
• A ligation assay for multiplex analysis of CpG methylation using bisulfite-treated DNA.
  PMID:17998253
  
  
• A typical Angelman syndrome with macrocephaly due to a familial imprinting center deletion.
  PMID:17975803
  
  
• Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes.
  PMID:17890436
  
  
• Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio.
  PMID:17661425
  
  
• Genomic imprinting and the expression of affect in Angelman syndrome: what's in the smile?
  PMID:17537073
  
  
• Cryptic duplication of 12q24.33 --> qter in a child with Angelman syndrome-simultaneous occurrence of two unrelated cytogenetic events.
  PMID:17394213
  
  
• Childhood autism and associated comorbidities.
  PMID:17084999
  
  
• Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.
  PMID:17006779
  
  

Behavior:

• Effects of adult familiarity on social behaviours in Angelman syndrome.
  PMID:21255175
  
  
• The behavioral phenotype of the Angelman syndrome.
  PMID:20981772
  
  
• Adaptive behaviour in Angelman syndrome: its profile and relationship to age.
  PMID:20854288
  
  
• The prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromes.
  PMID:20977515
  
  
• Experimental functional analysis of aggression in children with Angelman syndrome
  PMID:19361955
  
  
• The prevalence and phenomenology of repetitive behavior in genetic syndromes.
  PMID:19037716
  
  
• Behavior and neuropsychiatric manifestations in Angelman syndrome.
  PMID:18830393
  
  
• Behavioural flexibility in individuals with Angelman syndrome, Down syndrome, non-specific intellectual disability and Autism spectrum disorder.
  PMID:18384537
  
  
• Preference for water-related items in Angelman syndrome, Down syndrome and non-specific intellectual disability.
  PMID:18300168
  
  
• Parent report of stereotyped behaviors, social interaction, and developmental disturbances in individuals with Angelman syndrome.
  PMID:17019625
  
  

Genetics:

• Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.
  PMID:21248749
  
  
• An atypical case of hypomethylation at multiple imprinted loci.
  PMID:21206512
  
  
• Parental origin and functional relevance of a de novo UBE3A variant.
  PMID:20933619
  
  
• Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances
  PMID:20824892
  
  
• Genomic imprinting and human disease.
  PMID:20822494
  
  
• Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.
  PMID:20184619
  
  
• Heterochromatin dysregulation in human diseases.
  PMID:20360431
  
  
• A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree.
  PMID:20034088
  
  
• Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.
  PMID:20033293
  
  
• Prader-Willi and Angelman syndromes: genetic counseling
  PMID:19809481
  
  
• Imprinting disorders and assisted reproductive technology (II)
  PMID:19711252
  
  
• Intrauterine environment-genome interaction and children's development (3): Assisted reproductive technologies and developmental disorders.
  PMID:19571482
  
  
• Protein-binding elements establish in the oocyte the primary imprint of the Prader-Willi/Angelman syndromes domain.
  PMID:19506242
  
  
• Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family.
  PMID:19288551
  
  
• Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.
  PMID:19213023
  
  
• Imprinting disorders and assisted reproductive technology (I)
  PMID:19201275
  
  
• The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13.
  PMID:18840528
  
  
• Malignant conditions in children born after assisted reproductive technology.
  PMID:18799022
  
  
• A review of known imprinting syndromes and their association with assisted reproduction technologies.
  PMID:18703582
  
  
• A computational screen for C/D box snoRNAs in the human genomic region associated with Prader-Willi and Angelman syndromes.
  PMID:18661287
  
  
• Mechanisms of imprinting of the Prader-Willi/Angelman region.
  PMDI:18627066
  
  
• 15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization.
  PMID:18561338
  
  
• Angelman syndrome due to a novel splicing mutation of the UBE3A gene.
  PMID:18487518
  
  
• A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man.
  PMID:18378203
  
  
• SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
  PMID:18342287
  
  
• A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
  PMID:18278044
  
  
• Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes.
  PMID:17573966
  
  
• Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.
  PMID:17522620
  
  
• Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes.
  PMID:17415598
  
  
• Molecular epigenetics of Angelman syndrome.
  PMID:17347796
  
  
• 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.
  PMID:17339270
  
  
• C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain.
  PMID:17337158
• Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.
  PMID:17268193
  
  
• Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.
  PMID:17264869
  
  
• Angelman syndrome caused by an identical familial 1,487-kb deletion.
  PMID:17152063
  
  
• Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.
  PMID:17095305
  
  
• Subtelomeric trisomy 21q: a new benign chromosomal variant.
  PMID:17055792
  
  

Biology/Biochemistry:

• Alterations in white matter pathways in Angelman syndrome.
  PMID:21121904
  
  
• Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex.
  PMID:20692323
  
  
• Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes.
  PMID:20876107
  
  
• Role of ubiquitin-proteasome-mediated proteolysis in nervous system disease.
  PMID:20674814
  
  
• Ras and Rap Signaling in Synaptic Plasticity and Mental Disorders
  PMID:20431046
  
  
• The role of MeCP2 in brain development and neurodevelopmental disorders
  PMID:20425298
  
  
• Regulation of the polycomb protein Ring1B by self-ubiquitination or by E6-AP may have implications to the pathogenesis of Angelman syndrome.
  PMID:20351251
  
  
• Angelman syndrome at the synapse: meeting report of the Angelman Syndrome Foundation's 2009 scientific symposium
  PMID:20101047
  
  
• Abnormal myelination in Angelman syndrome
  PMID:19720548
  
  
• Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease.
  PMID:19619532
  
  
• Angelman syndrome scientific symposium on the structure and function of UBE3A/E6AP
  PMID:19617463
  
  
• The ubiquitin ligase E6-AP is induced and recruited to aggresomes in response to proteasome inhibition and may be involved in the ubiquitination of Hsp70-bound misfolded proteins
  PMID:19233847
  
  
• MeCP2 involvement in the regulation of neuronal alpha-tubulin production.
  PMID:19174478
  
  
• What would the brain look like in Angelman syndrome?
  PMID:18824378
  
  
• Ubiquitin ligase E6-AP and its role in human disease.
  PMID:18793139
  
  
• Abnormal myelination in Angelman syndrome.
  PMID:18573670
  
  
• [(11)C]flumazenil positron emission tomography analyses of brain gamma-aminobutyric acid type A receptors in Angelman syndrome.
  PMID:18346513
  
  
• HECT E3s and human disease.
  PMID:18047743
  
  
• Epigenetics and Neural developmental disorders: Washington DC, September 18 and 19, 2006.
  PMID:17965627
  
  
• Aberrant somatosensory-evoked responses imply GABAergic dysfunction in Angelman syndrome.
  PMID:17962046
  
  
• Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA.
  PMID:17303379
  
  

Sleep:

• Epilepsy and the sleep-wake patterns found in Angelman syndrome.
  PMID:19453716
  
  
• Exogenous melatonin for sleep problems in individuals with intellectual disability: a meta-analysis.
  PMID:19379289
  
  
• Melatonin for chronic insomnia in Angelman syndrome: a randomized placebo-controlled trial.
  PMID:18539989
  
  
• Are there distinctive sleep problems in Angelman syndrome?
  PMID:17765640
  
  

Seizures:

• Ketogenic diet in a patient with Angelman syndrome.
  PMID:20880305
  
  
• Clinical manifestation and EEG characteristics of Angelman syndrome. (Chinese)
  PMID:21176491
  
  
• A "happy" toddler presenting with sudden, life-threatening seizures.
  PMID:20434691
  
  
• Epilepsy in patients with Angelman syndrome
  PMID:20398390
  
  
• Mutations affecting GABAergic signaling in seizures and epilepsy
  PMID:20352446
  
  
• Benefit of corticosteroid therapy in Angelman syndrome.
  PMID:19666884
  
  
• Levetiracetam in nonconvulsive status epilepticus in a child with Angelman syndrome.
  PMID:19605773
  
  
• Myoclonic status in nonprogressive encephalopathies: an update.
  PMID:19469845
  
  
• Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.
  PMID:19453717
  
  
• Epilepsy and the sleep-wake patterns found in Angelman syndrome.
  PMID:19453716
  
  
• Epilepsy in Angelman syndrome.
  PMID:17904873
  
  
• Lamotrigine therapy of epilepsy with Angelman's syndrome.
  PMID:17326790
  
  
• Prevalence of Angelman syndrome amongst referrals with epilepsy and developmental delay.
  PMID:17676602
  
  

Health Care:

• "You Have to Sit and Explain it All, and Explain Yourself." Mothers' Experiences of Support Services for Their Offspring with a Rare Genetic Intellectual Disability Syndrome.
  PMID:21203808
  
  
• Imprinting disorders and assisted reproductive technology. (III)
  PMID:20962636
  
  
• Maternal parenting stress in families with a child with Angelman syndrome or Prader-Willi syndrome.
  PMID:20809878
  
  
• Refractive lens exchange with intraocular lens implantation in hyperopic eyes of a patient with Angelman syndrome.
  PMID:20656169
  
  
• Refractive lens exchange with intraocular lens implantation in hyperopic eyes of a patient with Angelman syndrome
  PMID:20656169
  
  
• Anesthetic management in a child with Angelman syndrome.
  PMID:20642665
  
  
• Angelman syndrome and celiac disease.
  PMID:20617869
  
  
• Anesthesia of a dental patient with Angelman syndrome -A case report-
  PMID:20498802
  
  
• Anaesthesia for an adult with Angelman syndrome
  PMID:19825063
  
  
• Angelman syndrome and anesthesia
  PMID:19076580
  
  
• Comments on a case report of Angelman syndrome anaesthesia
  PMID:18821896
  
  
• Long-standing fever and Angelman syndrome: report of two cases.
  PMID:18416709
  
  
• Vagal hypertonia and anesthesia in Angelman syndrome.
  PMID:18315655
  
  
• Epigenetics and assisted reproductive technologies: human imprinting syndromes.
  PMID:18302106
  
  
• Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study.
  PMID:17586835
  
  
• Coincidence of Graves' disease and Angelman syndrome in a 13 month old boy
  PMID:18293508
  
  
• Dental treatment of children with Angelman syndrome: a case report.
  PMID:18271768
  
  
• Bone mineral density in angelman syndrome.
  PMID:18021922
  
  
• Angelman syndrome and hypothyroidism - coincidence or unique correlation?
  PMID:17984955
  
  

Education:

• Parents' priorities for AAC and related instruction for their children with Angelman Syndrome.
  PMID:20196702
  
  

Therapeutic Trials:

• Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.
  PMID:20635355
  
  

Animal

Models:

• Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.
  PMID:20808828
  
  
• A Drosophila model for Angelman syndrome.
  PMID:18701717
  
  
• A targeted deletion upstream of Snrpn does not result in an imprinting defect.
  PMID:17514346
  
  
• Unraveling the mechanisms of Angelman Syndrome.
  PMID:17318219
  
  
• Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice.
  PMID:17936729
  
  

Biology/Biochemistry:

• Neuroscience: Angelman syndrome connections.
  PMID:21164477
  
  
• Drosophila Ube3a regulates monoamine synthesis by increasing GTP cyclohydrolase I activity via a non-ubiquitin ligase mechanism.
  PMID:21147225
  
  
• Loss of dopaminergic neurons and resulting behavioural deficits in mouse model of Angelman syndrome.
  PMID:20696245
  
  
• EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation.
  PMID:21029865
  
  
• Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation.
  PMID:20571502
  
  
• Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome
  PMID:20423730
  
  
• Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a.
  PMID:20212164
  
  
• The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.
  PMID:20211139
  
  
• Angelman syndrome: finding the lost arc
  PMID:20211128
  
  
• Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC
  PMID:19894069
  
  
• Impaired hippocampal plasticity and altered neurogenesis in adult Ube3a maternal deficient mouse model for Angelman syndrome
  PMID:19782683
  
  
• UBE3A/E6-AP regulates cell proliferation by promoting proteasomal degradation of p27
  PMID:19591933
  
  
• Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome.
  PMID:19563863
  
  
• Ube3a is required for experience-dependent maturation of the neocortex.
  PMID:19430469
  
  
• The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches.
  PMID:18996915
  
  
• Cerebellar network plasticity: from genes to fast oscillation.
  PMID:18359574
  
  
• Regulation of turnover of tumor suppressor p53 and cell growth by E6-AP, a ubiquitin protein ligase mutated in Angelman mental retardation syndrome.
  PMID:18193166
  
  
• The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.
  PMID:17940072
  
  
• New insight into the role of the beta3 subunit of the GABAA-R in development, behavior, body weight regulation, and anesthesia revealed by conditional gene knockout.
  PMID:17927825
  
  
• Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation.
  PMID:17259980
  
  

Genetics:

• Unique retrotransposon LINE-1 distribution at the Prader-Willi Angelman syndrome locus.
  PMID:17932619
  
  
• Genetic engineering cures mice of neurological deficits: prospects for treating Angelman syndrome.
  PMID:17559342
  
  

Behavior:

• Normal social seeking behavior, hypoactivity and reduced exploratory range in a mouse model of Angelman syndrome.
  PMID:21235769
  
  
• Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors.
  PMID:18413322
  
  

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