Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
about
Genetics of bipolar disorderUsing ERDS to infer copy-number variants in high-coverage genomesThe neurology of autism spectrum disordersExome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsyAdvancing epilepsy genetics in the genomic eraUncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletionsThe 15q11.2 BP1-BP2 microdeletion syndrome: a reviewThe newly identified migration inhibitory protein regulates the radial migration in the developing neocortexBurden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsiesConsensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesCommon genetic variation and susceptibility to partial epilepsies: a genome-wide association studyCNVs conferring risk of autism or schizophrenia affect cognition in controlsGenome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutationsFusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsyAn X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.Copy number variant analysis from exome data in 349 patients with epileptic encephalopathyProximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypesThe RNA-binding protein MARF1 promotes cortical neurogenesis through its RNase activity domainStructural genomic variation in childhood epilepsies with complex phenotypesChromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.Epilepsy genetics--past, present, and futureRare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.Genomics, intellectual disability, and autismThe genetic variability and commonality of neurodevelopmental disease.Relative burden of large CNVs on a range of neurodevelopmental phenotypes.Genome-wide approaches to schizophrenia.Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.New technologies for the identification of novel genetic markers of disorders of sex development (DSD).Describing the genetic architecture of epilepsy through heritability analysis.Neuropathology of 16p13.11 deletion in epilepsyDoes epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.Revealing a brain network endophenotype in families with idiopathic generalised epilepsy.Genetically complex epilepsies, copy number variants and syndrome constellations.The hidden genetics of epilepsy-a clinically important new paradigm.Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder studyNovel common copy number variation for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysis.Modeling a genetic risk for schizophrenia in iPSCs and mice reveals neural stem cell deficits associated with adherens junctions and polarity.Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.
P2860
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P2860
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
description
2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին 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
Recurrent microdeletions at 15 ...... opathic generalized epilepsies
@ast
Recurrent microdeletions at 15 ...... opathic generalized epilepsies
@en
Recurrent microdeletions at 15 ...... pathic generalized epilepsies.
@nl
type
label
Recurrent microdeletions at 15 ...... opathic generalized epilepsies
@ast
Recurrent microdeletions at 15 ...... opathic generalized epilepsies
@en
Recurrent microdeletions at 15 ...... pathic generalized epilepsies.
@nl
prefLabel
Recurrent microdeletions at 15 ...... opathic generalized epilepsies
@ast
Recurrent microdeletions at 15 ...... opathic generalized epilepsies
@en
Recurrent microdeletions at 15 ...... pathic generalized epilepsies.
@nl
P2093
P2860
P50
P356
P1433
P1476
Recurrent microdeletions at 15 ...... opathic generalized epilepsies
@en
P2093
Ailing A Kleefuss-Lie
Andre Franke
Arvid Suls
Bobby P C Koeleman
Carl Baker
Carolien G F de Kovel
Christian E Elger
Christian Kluck
Costin Leu
Eva H Brilstra
P2860
P356
10.1093/BRAIN/AWP262
P407
P50
P577
2009-10-20T00:00:00Z