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Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalitiesCytogenomic Aberrations in Congenital Cardiovascular MalformationsPromoting brown and beige adipocyte biogenesis through the PRDM16 pathwayOf mice and men: molecular genetics of congenital heart diseaseGenes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferationDisruption 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.EHMT1 controls brown adipose cell fate and thermogenesis through the PRDM16 complex.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 probesBrown and beige fat in humans: thermogenic adipocytes that control energy and glucose homeostasis.Azoospermia and ring chromosome 9--a case report.Activation of classical brown adipocytes in the adult human perirenal depot is highly correlated with PRDM16-EHMT1 complex expression.The epigenetic regulator G9a mediates tolerance to RNA virus infection in Drosophila.Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype.Wiz binds active promoters and CTCF-binding sites and is required for normal behaviour in the mouse.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.A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.The Lysine Methyltransferase G9a in Immune Cell Differentiation and Function.Brown and Beige Fat: Physiological Roles beyond Heat Generation.Altered neurite morphology and cholinergic function of induced pluripotent stem cell-derived neurons from a patient with Kleefstra syndrome and autismEuchromatin histone methyltransferase 1 regulates cortical neuronal network development.Writing, erasing and reading histone lysine methylations.Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome.Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome.A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors.Self-domestication in Homo sapiens: Insights from comparative genomics.Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction.Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.Inhibition of the G9a/GLP histone methyltransferase complex modulates anxiety-related behavior in mice.Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the Gene: An Underrecognized Association
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Update on Kleefstra Syndrome.
@ast
Update on Kleefstra Syndrome.
@en
Update on Kleefstra Syndrome.
@nl
type
label
Update on Kleefstra Syndrome.
@ast
Update on Kleefstra Syndrome.
@en
Update on Kleefstra Syndrome.
@nl
prefLabel
Update on Kleefstra Syndrome.
@ast
Update on Kleefstra Syndrome.
@en
Update on Kleefstra Syndrome.
@nl
P2093
P2860
P1476
Update on Kleefstra Syndrome.
@en
P2093
A M M Innes
A Stray-Pedersen
A T Vulto-van Silfhout
B Delle Chiaie
C M A van Ravenswaaij-Arts
E M Berry-Kravis
H G Yntema
H van Bokhoven
P2860
P304
P577
2012-01-24T00:00:00Z