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Angelman syndrome: a review of the clinical and genetic aspects

Angelman syndrome: a review of the clinical and genetic aspects

http://www.wikidata.org/entity/Q24678174

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Mouse vision as a gateway for understanding how experience shapes neural circuits The genetics of autistic disorders and its clinical relevance: a review of the literature A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes New advances of preimplantation and prenatal genetic screening and noninvasive testing as a potential predictor of health status of babies Dendritic spine dysgenesis in autism related disorders Angelman Syndrome Protein Ube3a Regulates Synaptic Growth and Endocytosis by Inhibiting BMP Signaling in Drosophila Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.Angelman syndrome: A review highlighting musculoskeletal and anatomical aberrations.Seizure-like activity in a juvenile Angelman syndrome mouse model is attenuated by reducing Arc expression.Ras and Rap signaling in synaptic plasticity and mental disorders.HECT E3s and human disease.Investigating mechanisms underlying neurodevelopmental phenotypes of autistic and intellectual disability disorders: a perspective.Child health, developmental plasticity, and epigenetic programming Annual Research Review: Transgenic mouse models of childhood-onset psychiatric disorders.The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a Spontaneous seizures and altered gene expression in GABA signaling pathways in a mind bomb mutant zebrafish.The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.Regulation of the polycomb protein Ring1B by self-ubiquitination or by E6-AP may have implications to the pathogenesis of Angelman syndrome Epigenetics and assisted reproductive technology: a call for investigation.Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome segregation The impact of assisted reproductive technologies on genomic imprinting and imprinting disorders.The role of GNAS and other imprinted genes in the development of obesity.A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome.Molecular and comparative genetics of mental retardation.A survey of assisted reproductive technology births and imprinting disorders.An open-label pilot trial of minocycline in children as a treatment for Angelman syndrome Abnormal language pathway in children with Angelman syndrome Neuronal chromatin dynamics of imprinting in development and disease Physical and functional interaction of the HECT ubiquitin-protein ligases E6AP and HERC2 Autism: a "critical period" disorder?Ubiquitination in postsynaptic function and plasticity Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes.Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects.Happy Puppet syndrome.Genomic imprinting and the social brain.Schatzki's Ring in Angelman Syndrome: A Diagnostic Dilemma in Neurodevelopmentally Disabled Patients

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P2860

Angelman syndrome: a review of the clinical and genetic aspects

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2003 nî lūn-bûn

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2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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Angelman syndrome: a review of the clinical and genetic aspects

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Angelman syndrome: a review of the clinical and genetic aspects

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Angelman syndrome: a review of the clinical and genetic aspects

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Angelman syndrome: a review of the clinical and genetic aspects

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Angelman syndrome: a review of the clinical and genetic aspects

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Angelman syndrome: a review of the clinical and genetic aspects

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Angelman syndrome: a review of the clinical and genetic aspects

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Angelman syndrome: a review of the clinical and genetic aspects

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P2860

UBE3A/E6-AP mutations cause Angelman syndrome

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23

Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features

Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling

Structure of an E6AP-UbcH7 complex: insights into ubiquitination by the E2-E3 enzyme cascade

The spectrum of mutations in UBE3A causing Angelman syndrome

Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.

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