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The role of cerebellar circuitry alterations in the pathophysiology of autism spectrum disordersNoncoding RNAs: key molecules in understanding and treating painModeling neurological disorders by human induced pluripotent stem cellsGenetics of Prader-Willi syndrome and Prader-Will-Like syndromeRNAcentral: A vision for an international database of RNA sequencesRole of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.Modulation of GABAergic transmission in development and neurodevelopmental disorders: investigating physiology and pathology to gain therapeutic perspectives.Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.Gene × Environment interactions in autism spectrum disorders: role of epigenetic mechanisms.Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus.Differential regulation of non-protein coding RNAs from Prader-Willi Syndrome locus.An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in miceMethylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunctionGenome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment.The role of genomic imprinting in biology and disease: an expanding view.Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genesPrioritization of Copy Number Variation Loci Associated with Autism from AutDB-An Integrative Multi-Study Genetic Database.Systematic review of the clinical and genetic aspects of Prader-Willi syndrome.Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.Genomic imprinting and the evolutionary psychology of human kinship.A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center.Monoallelic expression of the human FOXP2 speech gene.Temporal and developmental requirements for the Prader-Willi imprinting center.Allele-specific binding of ZFP57 in the epigenetic regulation of imprinted and non-imprinted monoallelic expressionClinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome.Molecular and Clinical Aspects of Angelman Syndrome.Allele-specific gene expression and epigenetic modifications and their application to understanding inheritance and cancer.Methylation levels at imprinting control regions are not altered with ovulation induction or in vitro fertilization in a birth cohortImprinted DLK1-DIO3 region of 14q32 defines a schizophrenia-associated miRNA signature in peripheral blood mononuclear cells.Expression of imprinted genes in placenta is associated with infant neurobehavioral development.Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain.Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3aAccumulation of instability in serial differentiation and reprogramming of parthenogenetic human cells.Non-Coding RNAs at the Gnas and Snrpn-Ube3a Imprinted Gene Loci and Their Involvement in Hereditary Disorders.Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testingMaternal transcription of non-protein coding RNAs from the PWS-critical region rescues growth retardation in mice.The health risks of ART.Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on August 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Prader-Willi syndrome and Angelman syndrome.
@en
Prader-Willi syndrome and Angelman syndrome.
@nl
type
label
Prader-Willi syndrome and Angelman syndrome.
@en
Prader-Willi syndrome and Angelman syndrome.
@nl
prefLabel
Prader-Willi syndrome and Angelman syndrome.
@en
Prader-Willi syndrome and Angelman syndrome.
@nl
P356
P1476
Prader-Willi syndrome and Angelman syndrome.
@en
P304
P356
10.1002/AJMG.C.30273
P577
2010-08-01T00:00:00Z