Distinct phenotypes distinguish the molecular classes of Angelman syndrome
about
Pathophysiological power of improper tonic GABA(A) conductances in mature and immature models.Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking dupliconsA therapeutic trial of pro-methylation dietary supplements in Angelman syndromeThe comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypesThe putatively functional Mkrn1-p1 pseudogene is neither expressed nor imprinted, nor does it regulate its source gene in transAngelman syndrome: a review of the clinical and genetic aspectsAbnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunctionAltered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.Psychosis and autism as diametrical disorders of the social brainGenome-wide and parental allele-specific analysis of CTCF and cohesin DNA binding in mouse brain reveals a tissue-specific binding pattern and an association with imprinted differentially methylated regionsAngelman syndrome: A review highlighting musculoskeletal and anatomical aberrations.Clinical review of genetic epileptic encephalopathiesGenetic reduction of the α1 subunit of Na/K-ATPase corrects multiple hippocampal phenotypes in Angelman syndrome.Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells.[Genetic and brain structure anomalies in autism spectrum disorders. Towards an understanding of the aetiopathogenesis?].Gender influences monoallelic expression of ATP10A in human brainMethylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalitiesTissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndromeInduced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes.Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutationA neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.Translating RNA sequencing into clinical diagnostics: opportunities and challenges.Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse modelAberrant expression of genes necessary for neuronal development and Notch signaling in an epileptic mind bomb zebrafish.Neuroepigenomics: Resources, Obstacles, and Opportunities.Quantitative and qualitative analyses of the SNRPN gene using real-time PCR with melting curve analysis.Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples.Toward a Broader View of Ube3a in a Mouse Model of Angelman Syndrome: Expression in Brain, Spinal Cord, Sciatic Nerve and Glial Cells.Noncoding RNAs in mental retardationEpilepsy in Korean patients with Angelman syndromeMolecular and Clinical Aspects of Angelman Syndrome.Reversal of impaired hippocampal long-term potentiation and contextual fear memory deficits in Angelman syndrome model mice by ErbB inhibitorsUnderstanding the pathogenesis of Angelman syndrome through animal modelsFrom Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study.Neurodevelopmental Underpinnings of Angelman Syndrome.Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain.Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3aAlterations in intrinsic membrane properties and the axon initial segment in a mouse model of Angelman syndromeMitochondrial Superoxide Contributes to Hippocampal Synaptic Dysfunction and Memory Deficits in Angelman Syndrome Model Mice
P2860
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P2860
Distinct phenotypes distinguish the molecular classes of Angelman syndrome
description
2001 nî lūn-bûn
@nan
2001 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Distinct phenotypes distinguish the molecular classes of Angelman syndrome
@ast
Distinct phenotypes distinguish the molecular classes of Angelman syndrome
@en
type
label
Distinct phenotypes distinguish the molecular classes of Angelman syndrome
@ast
Distinct phenotypes distinguish the molecular classes of Angelman syndrome
@en
prefLabel
Distinct phenotypes distinguish the molecular classes of Angelman syndrome
@ast
Distinct phenotypes distinguish the molecular classes of Angelman syndrome
@en
P2093
P2860
P356
P1476
Distinct phenotypes distinguish the molecular classes of Angelman syndrome
@en
P2093
A C Lossie
C A Williams
D J Driscoll
D Theriaque
M M Whitney
R D Nicholls
P2860
P304
P356
10.1136/JMG.38.12.834
P407
P577
2001-12-01T00:00:00Z