De novo mutations in moderate or severe intellectual disability
about
SYNGAP1: Mind the GapSwitching modes in corticogenesis: mechanisms of neuronal subtype transitions and integration in the cerebral cortexAdvancing epilepsy genetics in the genomic eraBrain-specific transcriptional regulator T-brain-1 controls brain wiring and neuronal activity in autism spectrum disordersExpansion and concatenation of non-muscle myosin IIA filaments drive cellular contractile system formation during interphase and mitosis.Human GRIN2B variants in neurodevelopmental disordersNext-Generation Sequencing in Intellectual DisabilityAn expanded sequence context model broadly explains variability in polymorphism levels across the human genome9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotypingDecrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function.Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery.Genome-wide analysis of differential RNA editing in epilepsy.WDR45 mutations in three male patients with West syndrome.Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromesMonogenic and chromosomal causes of isolated speech and language impairment.Calcium Signaling Pathway Is Associated with the Long-Term Clinical Response to Selective Serotonin Reuptake Inhibitors (SSRI) and SSRI with Antipsychotics in Patients with Obsessive-Compulsive Disorder.Redefining the MED13L syndromeGenetics and genomics of autism spectrum disorder: embracing complexity.Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.A targeted resequencing gene panel for focal epilepsy.De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.Gene expression elucidates functional impact of polygenic risk for schizophrenia.Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.mirDNMR: a gene-centered database of background de novo mutation rates in human.Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.Calcium/calmodulin-dependent serine protein kinase (CASK), a protein implicated in mental retardation and autism-spectrum disorders, interacts with T-Brain-1 (TBR1) to control extinction of associative memory in male mice.Methyl-CpG-binding domain proteins: readers of the epigenome.WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.Genetic studies in intellectual disability and related disorders.Contrasting Determinants of Mutation Rates in Germline and Soma.Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature.Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.A Rare Variant Identified Within the GluN2B C-Terminus in a Patient with Autism Affects NMDA Receptor Surface Expression and Spine Density.Spatial genome organization and cognition.
P2860
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P2860
De novo mutations in moderate or severe intellectual disability
description
2014 nî lūn-bûn
@nan
2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
De novo mutations in moderate or severe intellectual disability
@ast
De novo mutations in moderate or severe intellectual disability
@en
De novo mutations in moderate or severe intellectual disability
@en-gb
De novo mutations in moderate or severe intellectual disability
@nl
type
label
De novo mutations in moderate or severe intellectual disability
@ast
De novo mutations in moderate or severe intellectual disability
@en
De novo mutations in moderate or severe intellectual disability
@en-gb
De novo mutations in moderate or severe intellectual disability
@nl
prefLabel
De novo mutations in moderate or severe intellectual disability
@ast
De novo mutations in moderate or severe intellectual disability
@en
De novo mutations in moderate or severe intellectual disability
@en-gb
De novo mutations in moderate or severe intellectual disability
@nl
P2093
P2860
P50
P3181
P1433
P1476
De novo mutations in moderate or severe intellectual disability
@en
P2093
Alexey V Pshezhetsky
Anne Fougerat
Christina Nassif
Christine Massicotte
Edouard Henrion
Fadi F Hamdan
Hussein Daoud
Jacques L Michaud
Jose-Mario Capo-Chichi
Lysanne Patry
P2860
P304
P3181
P356
10.1371/JOURNAL.PGEN.1004772
P407
P577
2014-10-01T00:00:00Z