Angelman

• Home
• /  Research
• /  Research Publications

Research Publications

Year of Publication:

2013 | 2012 | 2011| 2010 |

2013 Abstracts

1. Evaluation of a behavioral treatment package to reduce sleep problems in children with Angelman Syndrome. Please click here to read the full abstract.

2. Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion. Please click here to read the full abstract.

3. RNAs of the human chromosome 15q11-q13 imprinted region. Please click here to read the full abstract.

4. Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues. Please click here to read the full abstract.

5. Mutation of HERC2 causes developmental delay with Angelman-like features. Please click here to read the full abstract.

6. The Angelman syndrome protein Ube3a is required for polarized dendrite morphogenesis in pyramidal neurons. Please click here to read the full abstract.

7. Behavioral deficits in an Angelman syndrome model: Effects of genetic background and age. Please click here to read the full abstract.

8. A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment. Please click here to read the full abstract.

9. Genome-Wide Allelic Methylation Analysis Reveals Disease-Specific Susceptibility to Multiple Methylation Defects in Imprinting Syndromes. Please click here to read the full abstract.

10. Angelman syndrome caused by deletion: A genotype-phenotype correlation determined by breakpoint. Please click here to read the full abstract.

11. Dental findings and special care in patients with Angelman syndrome: a report of three cases. Please click here to read the full abstract.

12. Regulatory elements associated with paternally-expressed genes in the imprinted murine angelman/prader-willi syndrome domain. Please click here to read the full abstract.

13. The epidemiology of intermittent and chronic ataxia in children in Manitoba, Canada. Please click here to read the full abstract.

14. Neurogenetic disorders and treatment of associated seizures. Please click here to read the full abstract.

15. Screening of UBE3A gene in patients referred for Angelman Syndrome. Please click here to read the full abstract.

16. Impairment of TrkB-PSD-95 Signaling in Angelman Syndrome. Please click here to read the full abstract.

17. E6AP/UBE3A Ubiquitin Ligase Harbors Two E2~ubiquitin Binding Sites. Please click here to read the full abstract.

Back to top (↑)

2012 Abstracts

1. Defective glucocorticoid hormone receptor signaling leads to increased stress and anxiety in a mouse model of Angelman syndrome. Please click here to read the full abstract.
2. Neurodevelopmental disorders: Unsilencing dormant Ube3a - hope for Angelman syndrome? Please click here for more information.
3. Sibling relationships in individuals with Angelman syndrome: A comparative study. Please click here to read the full abstract.
4. Another cause of vaccine encephalopathy: A case of Angelman syndrome. Please click here to read the full abstract.
5. Temporal and developmental requirements for the Prader-Willi imprinting center. Please click here to read the full abstract.
6. Analysis of EEG patterns and genotypes in patients with Angelman syndrome. Please click here to read the full abstract.
7. Primary epimutations introduced during intracytoplasmic sperm injection (ICSI) are corrected by germline-specific epigenetic reprogramming. Please click here to read the full abstract.
8. Reversal of Impaired Hippocampal Long-Term Potentiation and Contextual Fear Memory Deficits in Angelman Syndrome Model Mice by ErbB Inhibitors. Please click here to read the full abstract.
9. Prader-willi and angelman syndromes: 21 years of experience. Please click here to read the full abstract.
10. Parent-of-Origin Testing for 15q11-q13 Gains by Quantitative DNA Methylation Analysis. Please click here to read the full abstract.
11. Cellular and synaptic network defects in autism. Please click here to read the full abstract.
12. Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a. Please click here to read the full abstract.
13. Functional analysis and functional communication training in individuals with Angelman syndrome. Please click here to read the full abstract.
14. An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in mice. Please click here to read the full abstract.
15. Ampakines promote spine actin polymerization, long-term potentiation, and learning in a mouse model of Angelman syndrome. Please click here to read the full abstract.
16. Mechanisms of activation of the paternally expressed genes by the Prader-Willi imprinting center in the Prader-Willi/Angelman syndromes domains. Please click here to read the full abstract.
17. Role of ART in imprinting disorders. Please click here to read the full abstract.
18. Maternal UBE3A in Angelman syndrome: "The rest is silence"? Please click here to access the full text sources.
19. Spatial and temporal silencing of the human maternal UBE3A gene. Please click here to read the full abstract.
20. Angelman Syndrome Due to a Termination Codon Mutation of the UBE3A Gene. Please click here to read the full abstract.
21. Identification and proteomic analysis of distinct UBE3A/E6AP protein complexes. Please click here to read the full abstract.
22. Neurodevelopmental outcomes in children with Angelman syndrome after 1 year of behavioural intervention. Please click here to read the full abstract.
23. Molecular and Clinical Aspects of Angelman Syndrome. Please click here to read the full abstract.
24. Epilepsy in Korean patients with Angelman syndrome. Please click here to read the full abstract.
25. Maternal Loss of Ube3a Produces an Excitatory/Inhibitory Imbalance through Neuron Type-Specific Synaptic Defects. Please click here to read the full abstract.

Back to top (↑)

2011 Abstracts

1. Behavioral profiles of mouse models for autism spectrum disorders. Please click here to read the full abstract.
2. Effects of adult familiarity on social behaviours in Angelman syndrome. Please click here to read the full abstract.
3. Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Please click here to read the full abstract.
4. Maternally Derived Microduplications at 15q11-q13: Implication of Imprinted Genes in Psychotic Illness. Please click here to read the full abstract.
5. Psychological well-being in parents of children with Angelman, Cornelia de Lange and Cri du Chat syndromes. Please click here to read the full abstract.
6. Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes. Please click here to read the full abstract.
7. Normal social seeking behavior, hypoactivity and reduced exploratory range in a mouse model of Angelman syndrome. Please click here to read the full abstract.
8. Allelic dropout can cause false-positive results for prader-willi and angelman syndrome testing. Please click here to read the full abstract.
9. A novel missense mutation of the ubiquitin protein ligase E3A gene in a patient with Angelman syndrome. Please click here to read the full abstract.
10. Anesthesia and Angelman syndrome. Please click here to read the full abstract.
11. Angelman syndrome: advancing the research frontier of neurodevelopmental disorders. Please click here to read the full abstract.
12. Physical and functional interaction of the HECT ubiquitin-protein ligases E6AP and HERC2. Please click here to read the full abstract.
13. The expression and assessment of emotions and internal states in individuals with severe or profound intellectual disabilities. Please click here to read the full abstract.
14. Ophthalmic findings in Angelman syndrome. Please click here to read the full abstract.
15. Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: Case report. Please click here to read the full abstract.
16. Behavioral phenotypes of genetic syndromes with Intellectual Disability: Comparison of adaptive profiles. Please click here to read the full abstract.
17. The expression and assessment of emotions and internal states in individuals with severe or profound intellectual disabilities. Please click here to read the full abstract.
18. Drosophila modeling of heritable neurodevelopmental disorders. Please click here to read the full abstract.
19. Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes. Please click here to read the full abstract.
20. Abnormal language pathway in children with angelman syndrome. Please click here to read the full abstract.
21. Angelman Syndrome Protein UBE3A Interacts with Primary Microcephaly Protein ASPM, Localizes to Centrosomes and Regulates Chromosome Segregation. Please click here to read the full abstract.
22. Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes. Please click here to read the full abstract.
23. Age related change in social behavior in children with Angelman syndrome. Please click here to read the full abstract.
24. Novel deletion encompassing exons 5-12 of the UBE3A gene in a girl with Angelman syndrome. Please click here to read the full abstract.
25. The role of imprinted genes in fetal growth abnormalities. Please click here to read the full abstract.
26. Aberrant expression of genes necessary for neuronal development and notch signaling in an epileptic mind bomb zebrafish. Please click here to read the full abstract.
27. A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center. Please click here to read the full abstract.
28. UBE3A Regulates MC1R Expression: A Link to Hypopigmentation in Angelman Syndrome. Please click here to read the full abstract.
29. Pharmacological inactivation of the small GTPase Rac1 impairs long-term plasticity in the mouse hippocampus. Please click here to read the full abstract.
30. Relationship between aberrant brain connectivity and clinical features in Angelman syndrome: A new method using tract based spatial statistics of DTI color-coded orientation maps. Please click here to read the full abstract.
31. A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome. Please click here to read the full abstract.
32. Are children with Angelman syndrome at high risk for anesthetic complications? Please click here to read the full abstract.
33. Association of genetic variants on 15q12 with cortical thickness and cognition in schizophrenia. Please click here to read the full abstract.
34. Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons. Please click here to read the full abstract.
35. Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class. Please click here to read the full abstract.
36. Sudden Death and Angelman Syndrome. Please click here to read the full abstract.
37. Angelman syndrome and pseudo-hypsarrhythmia: a diagnostic pitfall. Please click here to read the full abstract.
38. Defects in translational regulation contributing to human cognitive and behavioral disease. Please click here to read the full abstract.
39. Quantitative and Qualitative Analyses of the SNRPN Gene Using Real-Time PCR with Melting Curve Analysis. Please click here to read the full abstract.
40. E6AP is required for replicative and oncogene-induced senescence in mouse embryo fibroblasts. Please click here to read the full abstract.
41. Zn-binding AZUL domain of human ubiquitin protein ligase Ube3A. Please click here to read the full abstract.
42. Prenatal diagnosis by amniocentesis. Clinical and cytogenetic experience in 1,500 cases. Please click here to read the full abstract.
43. Neurology of laughter and humour: pathological laughing and crying. Please click here to read the full abstract.
44. Sleep in children and adolescents with Angelman syndrome: association with parent sleep and stress. Please click here to read the full abstract.
45. Angelman syndrome and prenatally diagnosed Prader-Willi syndrome in first cousins. Please click here to read the full abstract.
46. Algorithmic Approach for Methyl-CpG Binding Protein 2 (MECP2) Gene Testing in Patients With Neurodevelopmental Disabilities. Please click here to read the full abstract.
47. Alterations in intrinsic membrane properties and the axon initial segment in a mouse model of Angelman syndrome. Please click here to read the full abstract.
48. Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency. Please click here to read the full abstract.
49. Adeno-associated virus-mediated rescue of the cognitive defects in a mouse model for Angelman syndrome. Please click here to read the full abstract.
50. A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Please click here to read the full abstract.
51. Angelman syndrome: Drugs to awaken a paternal gene. Please click here to read.
52. Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons. Please click here to read the full abstract.
53. Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency. Please click here to read the full abstract.
54. Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus. Please click here to read the full abstract.

Back to top (↑)

2010 Abstracts

1.    An atypical case of hypomethylation at multiple imprinted loci. Please click here to read the full abstract.
2. Angelman syndrome: Mutations influence features in early childhood. Please click here to read the full abstract.
3. "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. Please click here to read the full abstract.
4. Insight into renal Mg2+ transporters. Please click here to read the full abstract.
5. Clinical manifestation and EEG characteristics of Angelman syndrome. Please click here to read the full abstract.
6. Contribution of animal models to the study of reproduction, assisted reproductive technologies and of development. Please click here to read the full abstract.
7. Methylation of DNA is an epigenetic modification critical for gametic imprinting. Please click here to read the full abstract.
8. Which neurodevelopmental disorders get researched and why? Please click here to read the full abstract.
9. Drosophila Ube3a regulates monoamine synthesis by increasing GTP cyclohydrolase I activity via a non-ubiquitin ligase mechanism. Please click here to read the full abstract.
10. Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother. Please click here to read the full abstract.
11. Alterations in white matter pathways in Angelman syndrome. Please click here to read the full abstract.
12. Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome. Please click here to read the full abstract.
13. EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation. Please click here to read the full abstract.
14. The behavioral phenotype of the idic(15) syndrome. Please click here to read the full abstract.
15. The behavioral phenotype of the Angelman syndrome. Please click here to read the full abstract.
16. The prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromes. Please click here to read the full abstract.
17. Imprinting disorders and assisted reproductive technology. Please click here to read the full abstract.
18. Natural history of Christianson syndrome. Please click here to read the full abstract.
19. Parental origin and functional relevance of a de novo UBE3A variant. Please click here to read the full abstract.
20. Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes. Please click here to read the full abstract.
21. Adaptive behaviour in Angelman syndrome: its profile and relationship to age. Please click here to read the full abstract.
22. Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances. Please click here to read the full abstract.
23. Genomic imprinting and human disease. Please click here to read the full abstract.
24. Maternal parenting stress in families with a child with Angelman syndrome or Prader-Willi syndrome. Please click here to read the full abstract.
25. Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3. Please click here to read the full abstract.
26. Prader-Willi syndrome and Angelman syndrome. Please click here to read the full abstract.
27. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. Please click here to read the full abstract.
28. Epilepsy in Prader-Willi syndrome: clinical characteristics and correlation to genotype. Please click here to read the full abstract.
29. Loss of dopaminergic neurons and resulting behavioural deficits in mouse model of Angelman syndrome. Please click here to read the full abstract.
30. Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex. Please click here to read the full abstract.
31. Role of ubiquitin-proteasome-mediated proteolysis in nervous system disease. Please click here to read the full abstract.
32. Refractive lens exchange with intraocular lens implantation in hyperopic eyes of a patient with Angelman syndrome. Please click here to read the full abstract.
33. Autism spectrum disorders and epigenetics. Please click here to read the full abstract.
34. Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication. Please click here to read the full abstract.
35. Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. Please click here to read the full abstract.
36. Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. Please click here to read the full abstract.
37. Angelman syndrome and celiac disease. Please click here to read the full abstract.
38. Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome. Please click here to read the full abstract.
39. De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature. Please click here to read the full abstract.
40. Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation. Please click here to read the full abstract.
41. Anesthesia of a dental patient with Angelman syndrome -A case report-. Please click here to read the full abstract.
42. Psychiatric features in children with genetic syndromes: toward functional phenotypes. Please click here to read the full abstract.
43. Quantitative 1-step DNA methylation analysis with native genomic DNA as template. Please click here to read the full abstract.
44. Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes. Please click here to read the full abstract.
45. Clinical and genetic aspects of Angelman syndrome. Please click here to read the full abstract.
46. A "happy" toddler presenting with sudden, life-threatening seizures. Please click here to read the full abstract.
47. Ras and Rap Signaling in Synaptic Plasticity and Mental Disorders. Please click here to read the full abstract.
48. The role of MeCP2 in brain development and neurodevelopmental disorders. Please click here to read the full abstract.
49. Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome. Please click here to read the full abstract.
50. Anesthetic management of a child with Angelman's syndrome. Please click here to read the full abstract.
51. Genomic imprinting: the influence of differential methylation in the two sexes. Please click here to read the full abstract.
52. Epilepsy in patients with Angelman syndrome. Please click here to read the full abstract.
53. A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype. Please click here to read the full abstract.
54. Heterochromatin dysregulation in human diseases. Please click here to read the full abstract.
55. Mutations affecting GABAergic signaling in seizures and epilepsy. Please click here to read the full abstract.
56. Regulation of the polycomb protein Ring1B by self-ubiquitination or by E6-AP may have implications to the pathogenesis of Angelman syndrome. Please click here to read the full abstract.
57. Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11-q13. Please click here to read the full abstract.
58. MECP2-Related Disorders. Please click here to read the full abstract.
59. Angelman Syndrome. Please click here to read the full abstract.
60. Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a. Please click here to read the full abstract.
61. The Angelman syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Please click here to read the full abstract.
62. Preview. Angelman syndrome: finding the lost arc. Please click here to read the full abstract.
63. Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation. Please click here to read the full abstract.
64. Parents' priorities for AAC and related instruction for their children with Angelman syndrome. Please click here to read the full abstract.
65. Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. Please click here to read the full abstract.
66. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Please click here to read the full abstract.
67. Angelman syndrome at the synapse: meeting report of the Angelman Syndrome Foundation's 2009 scientific symposium. Please click here to read the full abstract.
68. A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree. Please click here to read the full abstract.
69. Genetic and clinical study on 17 cases of Angelman syndrome with deletion of 15q11-13. Please click here to read the full abstract.
70. Dramatic Loss of Ube3A Expression during Aging of the Mammalian Cortex. Please click here to read the full abstract.
71. E6AP ubiquitin ligase mediates ubiquitin-dependent degradation of peroxiredoxin 1. Please click here to read the full abstract.
72. Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A. Please click here to read the full abstract.
73. Angelman syndrome, a genomic imprinting disorder of the brain. Please click here to read the full abstract.
74. Characterization of the Brain 26S Proteasome and its Interacting Proteins. Please click here to read the full article.
75. Isoform-specific degradation of PR-B by E6-AP is critical for normal mammary gland development. Please click here to read the full abstract.
76. The Role of Calcium-Dependent Gene Expression in Autism Spectrum Disorders: Lessons from MeCP2, Ube3a and Beyond. Please click here to read the full abstract.
77. Engineering a protein-protein interface using a computationally designed library. Please click here to read the full abstract.
78. Highly parallel SNP genotyping reveals high-resolution landscape of mono-allelic Ube3a expression associated with locus-wide antisense transcription. Please click here to read the full abstract.

 Back to top (↑)

---