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A therapeutic trial of pro-methylation dietary supplements in Angelman syndromeAngelman syndrome: a review of the clinical and genetic aspectsAltered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.Prader-Willi and Angelman syndromes: sister imprinted disordersGenetic ablation of the steroid receptor coactivator-ubiquitin ligase, E6-AP, results in tissue-selective steroid hormone resistance and defects in reproduction.Angelman syndrome: A review highlighting musculoskeletal and anatomical aberrations.Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells.HPV E6, E6AP and cervical cancer.From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.The impact of genomic imprinting for neurobehavioral and developmental disorders.Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalitiesGeneralized epileptic disorders: an update.New thoughts on female precocious puberty.Angelman syndrome: mimicking conditions and phenotypes.Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome.Drosophila Ube3a regulates monoamine synthesis by increasing GTP cyclohydrolase I activity via a non-ubiquitin ligase mechanism.Alterations in white matter pathways in Angelman syndrome.American College of Medical Genetics statement of diagnostic testing for uniparental disomyAngelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding proteinThe Nedd4 family of E3 ubiquitin ligases: functional diversity within a common modular architecture.Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome.Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B)Molecular and Clinical Aspects of Angelman Syndrome.Dysfunction of the ubiquitin ligase Ube3a may be associated with synaptic pathophysiology in a mouse model of Huntington diseaseUbe3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3aSynaptic plasticity in mouse models of autism spectrum disorders.Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafishConserved characteristics of heterochromatin-forming DNA at the 15q11-q13 imprinting center.Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligaseThe active form of E6-associated protein (E6AP)/UBE3A ubiquitin ligase is an oligomer.Angelman syndrome (AS, MIM 105830)Clinical and genetic aspects of Angelman syndrome.Algorithmic approach for methyl-CpG binding protein 2 (MECP2) gene testing in patients with neurodevelopmental disabilities.Quantitative Measurement of Communication Ability in Children with Angelman Syndrome.Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization.A long-term population-based clinical and morbidity profile of Angelman syndrome in Western Australia: 1953-2003.Angelman syndrome-associated ubiquitin ligase UBE3A/E6AP mutants interfere with the proteolytic activity of the proteasome.Genomic imprinting as a cause of disease.Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation.Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome.
P2860
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P2860
description
1999 nî lūn-bûn
@nan
1999 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Genetics of Angelman syndrome.
@ast
Genetics of Angelman syndrome.
@en
type
label
Genetics of Angelman syndrome.
@ast
Genetics of Angelman syndrome.
@en
prefLabel
Genetics of Angelman syndrome.
@ast
Genetics of Angelman syndrome.
@en
P2093
P2860
P356
P1476
Genetics of Angelman syndrome.
@en
P2093
P2860
P356
10.1086/302473
P407
P577
1999-07-01T00:00:00Z