Research Publications

2012 | 2011| 2010 | 2009 | 2008

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.

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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.

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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.

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2009 Abstracts

  1. The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches. Please click here to read the full abstract.
  2. Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR. Please click here to read the full abstract.
  3. MeCP2 involvement in the regulation of neuronal alpha-tubulin production. Pleae click here to read the full abstract.
  4. Imprinting disorders and assisted reproductive technology. Please click here to read the full abstract.
  5. Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. Please click here to read the full abstract.
  6. 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. Please click here to read the full abstract.
  7. 2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features? Please click here to read the full abstract.
  8. Misleading behavioural phenotype with adenylosuccinate lyase deficiency. Please click here to read the full abstract.
  9. Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number. Please click here to read the full abstract.
  10. The prevalence and phenomenology of repetitive behavior in genetic syndromes. Please click here to read the full abstract.
  11. A 15q13.3 microdeletion segregating with autism. Please click here to read the full abstract.
  12. Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Please click here to read the full abstract.
  13. Comparing two diagnostic laboratory tests for several microdeletions causing mental retardation syndromes: multiplex ligation-dependent amplification vs fluorescent in situ hybridization. Please click here to read the full abstract.
  14. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Please click here to read the full abstract.
  15. Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family. Please click here to read the full abstract.
  16. Genetic imprinting: the paradigm of Prader-Willi and Angelman syndromes. Please click here to read the full abstract.
  17. Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances. Please click here to read the full abstract.
  18. Experimental functional analysis of aggression in children with Angelman syndrome. Please click here to read the full abstract.
  19. Exogenous melatonin for sleep problems in individuals with intellectual disability: a meta-analysis. Please click here to read the full abstract.
  20. Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication. Please click here to read the full abstract.
  21. Ube3a is required for experience-dependent maturation of the neocortex. Please click here to read the full abstract.
  22. Epilepsy and the sleep-wake patterns found in Angelman syndrome. Please click here to read the full abstract.
  23. Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options. Please click here to read the full abstract.
  24. Angelman syndrome (AS, MIM 105830). Please click here to read the full abstract.
  25. Myoclonic status in nonprogressive encephalopathies: an update. Please click here to read the full abstract.
  26. A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Please click here to read the full abstract.
  27. Protein-binding elements establish in the oocyte the primary imprint of the Prader-Willi/Angelman syndromes domain. Please click here to read the full abstract.
  28. Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome. Please click here to read the full abstract.
  29. Intrauterine environment-genome interaction and children's development (3): Assisted reproductive technologies and developmental disorders. Please click here to read the full abstract.
  30. UBE3A/E6-AP regulates cell proliferation by promoting proteasomal degradation of p27. Please click here to read the full abstract.
  31. The ubiquitin proteasome system in neuropathology. Please click here to read the full abstract.
  32. Levetiracetam in nonconvulsive status epilepticus in a child with Angelman syndrome. Please click here to read the full abstract.
  33. Angelman syndrome scientific symposium on the structure and function of UBE3A/E6AP. Please click here to read the full abstract.
  34. Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease. Please click here to read the full abstract.
  35. The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling. Please click here to read the full abstract.
  36. Detection and discrimination between deletional and non-deletional Prader-Willi and Angelman syndromes by methylation-specific PCR and quantitative melting curve analysis. Please click here to read the full abstract.
  37. Benefit of corticosteroid therapy in Angelman syndrome. Please click here to read the full abstract.
  38. Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity. Please click here to read the full abstract.
  39. Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population. Please click here to read the full abstract.
  40. Targeted disruption of the mouse Npal3 gene leads to deficits in behavior, increased IgE levels, and impaired lung function. Please click here to read the full abstract.
  41. Impaired hippocampal plasticity and altered neurogenesis in adult Ube3a maternal deficient mouse model for Angelman syndrome. Please click here to read the full abstract.
  42. A study on genetic diagnosis for Angelman syndrome. Please click here to read the full abstract.
  43. Genetic diagnosis and prenatal diagnosis of Angelman syndrome. Please click here to read the full abstract.
  44. Anaesthesia for an adult with Angelman syndrome. Please click here to read the full abstract.
  45. Analysis of genomic imprinting defects in Angelman syndrome with application of quantitative real-time PCR. Please click here to read the full abstract.
  46. Angelman syndrome--the research model of epigenetic mechanisms expression genes regulation. Please click here to read the full abstract.
  47. Genomic imprinting disorders in humans: a mini-review. Please click here to read the full abstract.
  48. Angelman syndrome: current understanding and research prospects. Please click here to read the full abstract.
  49. Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC. Please click here to read the full abstract.

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2008 Abstracts

  1. Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region. Click here to read the full abstract.
  2. Regulation of turnover of tumor suppressor p53 and cell growth by E6-AP, a ubiquitin protein ligase mutated in Angelman mental retardation syndrome. Click here to read the full abstract.
  3. A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Click here to read the full abstract.
  4. A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man. Click here to read the full abstract.
  5. Behavioural flexibility in individuals with Angelman syndrome, Down syndrome, non-specific intellectual disability and Autism spectrum disorder. Click here to read the full abstract.
  6. Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors. Click here to read the full abstract.
  7. Long-standing fever and Angelman syndrome: report of two cases. Click here to read the full abstract.
  8. Anaesthesia for Angelman syndrome. Click here to read the full abstract.
  9. Angelman syndrome due to a novel splicing mutation of the UBE3A gene. Click here to read the full abstract.
  10. Association study of the commonly recognized breakpoints in chromosome 15q11-q13 in Japanese autistic patients. Click here to read the full abstract.
  11. Deletion 22q13.3 syndrome. Click here to read the full abstract.
  12. Melatonin for chronic insomnia in Angelman syndrome: a randomized placebo-controlled trial. Click here to read the full abstract.
  13. 15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization. Click here to read the full abstract.
  14. Abnormal myelination in Angelman syndrome. Click here to read the full abstract.
  15. No association between the ryanodine receptor 3 gene and autism in a Japanese population. Click here to read the full abstract.
  16. Mechanisms of imprinting of the Prader-Willi/Angelman region. Click here to read the full abstract.
  17. Epileptic seizures in Angelman syndrome. Click here to read the full abstract.
  18. A computational screen for C/D box snoRNAs in the human genomic region associated with Prader-Willi and Angelman syndromes. Click here to read the full abstract.
  19. Angelman syndrome: clinical findings and follow-up data of 14 patients. Click here to read the full abstract.
  20. Functional characterization of NIPA2, a selective Mg2+ transporter. Click here to read the full abstract.
  21. A Drosophila model for Angelman syndrome. Click here to read the full abstract.
  22. A review of known imprinting syndromes and their association with assisted reproduction technologies. Click here to read the full abstract.
  23. Gender influences monoallelic expression of ATP10A in human brain. Click here to read the full abstract.
  24. Evolution of genomic imprinting with biparental care: implications for Prader-Willi and Angelman syndromes. Click here to read the full abstract.
  25. Genetic and clinical diagnosis of Angelman syndrome. Case Reviews. Click here to read the full abstract.
  26. Genomic imprinting in the development and evolution of psychotic spectrum conditions. Click here to read the full abstract.
  27. Ubiquitin ligase E6-AP and its role in human disease. Click here to read the full abstract.
  28. Malignant conditions in children born after assisted reproductive technology. Click here to read the full abstract.
  29. 2q23.1 microdeletion identified by array-CGH: an emerging phenotype with Angelman-like features? Click here to read the full abstract.
  30. Misleading behavioural phenotype with adenylosuccinate lyase deficiency. Click here to read the full abstract.
  31. Behavior and neuropsychiatric manifestations in Angelman syndrome. Click here to read the full abstract.
  32. Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number. Click here to read the full abstract.
  33. Parental imprinting related to Assisted Reproductive Technologies. Click here to read the full abstract.
  34. Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT. Click here to read the full abstract.
  35. Causes and clinical implications of sperm DNA damages. Click here to read the full abstract.
  36. Model of very fast (> 75 Hz) network oscillations generated by electrical coupling between the proximal axons of cerebellar Purkinje cells. Click here to read the full abstract.
  37. The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). Click here to read the full abstract.
  38. The prevalence and phenomenology of repetitive behavior in genetic syndromes. Click here to read the full abstract.
  39. A 15q13.3 microdeletion segregating with autism. Click here to read the full abstract.
  40. A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15. Click here to read the full abstract.
  41. Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome.  Click here to read the full abstract.
  42. In search of the psychosis gene in people with Prader-Willi syndrome. Click here to read the full abstract.
  43. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Click here to read the full abstract.
  44. [(11)C]flumazenil positron emission tomography analyses of brain gamma-aminobutyric acid type A receptors in Angelman syndrome. Click here to read the full abstract.
  45. Epilepsy in Angelman syndrome. Click here to read the full abstract.
  46. Vagal hypertonia and anesthesia in Angelman syndrome. Click here for more information.
  47. Concurrent transposition of distal 6p and 20q to the 22q telomere: A recurrent benign chromosomal variant. Click here to read thr full abstract.
  48. Epigenetics and assisted reproductive technologies: human imprinting syndromes. Click here to read the full abstract.
  49. Preference for water-related items in Angelman syndrome, Down syndrome and non-specific intellectual disability. Click here to read the full abstract.
  50. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Click here to read the full abstract.
  51. Cerebellar network plasticity: From genes to fast oscillation. Click here to read the full abstract.
  52. Dental treatment of children with Angelman syndrome: a case report. Click here to read the full abstract.
  53. [Coincidence of Graves' disease and Angelman syndrome in a 13 month old boy] Click here to read the full abstract.
  54. Prenatal testing for uniparental disomy: indications and clinical relevance. Click here to read the full abstract.
  55. Aberrant somatosensory-evoked responses imply GABAergic dysfunction in Angelman syndrome. Click here to read the full abstract.
  56. Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15. Click here to read the full abstract.
  57. Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion. Click here to read the full abstract.
  58. The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Click here to read the full abstract.
  59. Human disorders caused by the disruption of the regulation of excitatory neurotransmission. Click here to read the full abstract.

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