Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.
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Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalitiesCytogenomic Aberrations in Congenital Cardiovascular MalformationsChemical probes of histone lysine methyltransferasesCopy number variants in obesity-related syndromes: review and perspectives on novel molecular approachesHistone methylation: a dynamic mark in health, disease and inheritanceControl of cognition and adaptive behavior by the GLP/G9a epigenetic suppressor complex.De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.Concordance analysis for QTL detection in dairy cattle: a case study of leg morphology.Epigenetic regulation of learning and memory by Drosophila EHMT/G9a.Coordinated chromatin control: structural and functional linkage of DNA and histone methylation.De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.Update on Kleefstra Syndrome.Disruption of an EHMT1-associated chromatin-modification module causes intellectual disabilityA mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.Pre-administration of G9a/GLP inhibitor during synaptogenesis prevents postnatal ethanol-induced LTP deficits and neurobehavioral abnormalities in adult mice.Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects.Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probesREST and CoREST are transcriptional and epigenetic regulators of seminal neural fate decisions.Selective inhibitors of protein methyltransferasesConstitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma.Functional Crosstalk Between Lysine Methyltransferases on Histone Substrates: The Case of G9A/GLP and Polycomb Repressive Complex 2Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsyAdult Phenotypes in Angelman- and Rett-Like Syndromes.Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype.Epigenetic mechanisms in neurological diseaseChromatin-modifying agents for epigenetic reprogramming and endogenous neural stem cell-mediated repair in stroke.Regulation of non-coding RNA networks in the nervous system--what's the REST of the story?Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis.Application of array-based comparative genomic hybridization to pediatric neurologic diseasesDiscovery of an in vivo chemical probe of the lysine methyltransferases G9a and GLP.Epigenetic determinants of healthy and diseased brain aging and cognition.A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients.A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylationEpigenetic regulation of mmp-9 gene expression.Genetic syndromes caused by mutations in epigenetic genes.Epigenetic control of cytokine gene expression: regulation of the TNF/LT locus and T helper cell differentiation.Brown adipose tissue as an anti-obesity tissue in humans.Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.Human Structural Variation: Mechanisms of Chromosome Rearrangements.
P2860
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P2860
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.
description
2009 nî lūn-bûn
@nan
2009 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի մարտին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Further clinical and molecular ...... iciency to the core phenotype.
@ast
Further clinical and molecular ...... iciency to the core phenotype.
@en
Further clinical and molecular ...... iciency to the core phenotype.
@nl
type
label
Further clinical and molecular ...... iciency to the core phenotype.
@ast
Further clinical and molecular ...... iciency to the core phenotype.
@en
Further clinical and molecular ...... iciency to the core phenotype.
@nl
prefLabel
Further clinical and molecular ...... iciency to the core phenotype.
@ast
Further clinical and molecular ...... iciency to the core phenotype.
@en
Further clinical and molecular ...... iciency to the core phenotype.
@nl
P2093
P50
P356
P1476
Further clinical and molecular ...... iciency to the core phenotype.
@en
P2093
A Delicado Navarro
A González-Meneses López
H G Brunner
H G Yntema
H van Bokhoven
P304
P356
10.1136/JMG.2008.062950
P407
P577
2009-03-04T00:00:00Z