Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.
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Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilitiesLoss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndromeMolecular underpinnings of prefrontal cortex development in rodents provide insights into the etiology of neurodevelopmental disordersCongenital heart disease: emerging themes linking genetics and developmentOf mice and men: molecular genetics of congenital heart diseaseCopy number variants in obesity-related syndromes: review and perspectives on novel molecular approachesNext-Generation Sequencing in Intellectual DisabilityMETTL23, a transcriptional partner of GABPA, is essential for human cognition.Epigenetic regulation in the inner ear and its potential roles in development, protection, and regeneration.Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation.Analogues of the Natural Product Sinefungin as Inhibitors of EHMT1 and EHMT2.Epigenetic regulation of learning and memory by Drosophila EHMT/G9a.Histones: Controlling Tumor Signaling CircuitryUpdate on Kleefstra Syndrome.A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.EHMT1 controls brown adipose cell fate and thermogenesis through the PRDM16 complex.Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndromeInvestigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probesFunctional Crosstalk Between Lysine Methyltransferases on Histone Substrates: The Case of G9A/GLP and Polycomb Repressive Complex 2Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders.Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype.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 zebrafishMicroRNAs and intellectual disability (ID) in Down syndrome, X-linked ID, and Fragile X syndrome.Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus.Histone methylation at H3K9: evidence for a restrictive epigenome in schizophrenia.Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.Epigenetics of sleep and chronobiology.H3K9 methyltransferase G9a and the related molecule GLP.Delineation of subtelomeric deletion of the long arm of chromosome 6.Genetic variation in the epigenetic machinery and mental health.Histone-modifying enzymes: regulators of developmental decisions and drivers of human disease.Tipping the lysine methylation balance in diseaseGene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.A Drosophila model for the role of epigenetics in brain function and development.Histone Lysine Methylation and Neurodevelopmental Disorders.G9a and ZNF644 Physically Associate to Suppress Progenitor Gene Expression during NeurogenesisDifferential patterns of histone methylase EHMT2 and its catalyzed histone modifications H3K9me1 and H3K9me2 during maturation of central auditory system.TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions.A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors.
P2860
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P2860
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.
description
2005 nî lūn-bûn
@nan
2005 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Disruption of the gene Euchrom ...... ubtelomeric deletion syndrome.
@ast
Disruption of the gene Euchrom ...... ubtelomeric deletion syndrome.
@en
Disruption of the gene Euchromatin Histone Methyl Transferase1
@nl
type
label
Disruption of the gene Euchrom ...... ubtelomeric deletion syndrome.
@ast
Disruption of the gene Euchrom ...... ubtelomeric deletion syndrome.
@en
Disruption of the gene Euchromatin Histone Methyl Transferase1
@nl
prefLabel
Disruption of the gene Euchrom ...... ubtelomeric deletion syndrome.
@ast
Disruption of the gene Euchrom ...... ubtelomeric deletion syndrome.
@en
Disruption of the gene Euchromatin Histone Methyl Transferase1
@nl
P2093
P2860
P356
P1476
Disruption of the gene Euchrom ...... subtelomeric deletion syndrome
@en
P2093
Banning MJ
Brunner HG
Kleefstra T
Nillesen W
Oudakker AR
Sistermans EA
Van Esch H
P2860
P304
P356
10.1136/JMG.2004.028464
P407
P577
2005-04-01T00:00:00Z