Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.
about
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.Using ERDS to infer copy-number variants in high-coverage genomesExome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsyAdvancing epilepsy genetics in the genomic eraClinical review: Genome-wide association studies of skeletal phenotypes: what we have learned and where we are headedUncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletionsQuantitative magnetic resonance imaging traits as endophenotypes for genetic mapping in epilepsyHomozygous PLCB1 deletion associated with malignant migrating partial seizures in infancyPleiotropy in complex traits: challenges and strategiesBurden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsiesPerformance of genotype imputation for rare variants identified in exons and flanking regions of genesCommon genetic variation and susceptibility to partial epilepsies: a genome-wide association studyFusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsySNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.The expression and roles of Nde1 and Ndel1 in the adult mammalian central nervous system.Structural genomic variation in childhood epilepsies with complex phenotypesA genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletionEpilepsy genetics--past, present, and futurePrioritization of epilepsy associated candidate genes by convergent analysis.Ethical challenges in genotype-driven research recruitmentGenomics, intellectual disability, and autismThe genetic variability and commonality of neurodevelopmental disease.Genome-wide signatures of 'rearrangement hotspots' within segmental duplications in humans.Describing the genetic architecture of epilepsy through heritability analysis.The scaffold protein Nde1 safeguards the brain genome during S phase of early neural progenitor differentiation.Neuropathology of 16p13.11 deletion in epilepsyDoes epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studiesNeurogenetics: advancing the "next-generation" of brain research.Genetically complex epilepsies, copy number variants and syndrome constellations.SHC2 gene copy number in multiple system atrophy (MSA)Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder studyMale-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.Phenotypic manifestations of copy number variation in chromosome 16p13.11.Epilepsy and the new cytogenetics.Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample.6q22.1 microdeletion and susceptibility to pediatric epilepsy.An evaluation of copy number variation detection tools from whole-exome sequencing data.
P2860
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P2860
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.
description
2010 nî lūn-bûn
@nan
2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Rare deletions at 16p13.11 pre ...... f sporadic epilepsy syndromes.
@ast
Rare deletions at 16p13.11 pre ...... f sporadic epilepsy syndromes.
@en
type
label
Rare deletions at 16p13.11 pre ...... f sporadic epilepsy syndromes.
@ast
Rare deletions at 16p13.11 pre ...... f sporadic epilepsy syndromes.
@en
altLabel
Rare deletions at 16p13.11 pre ...... of sporadic epilepsy syndromes
@en
prefLabel
Rare deletions at 16p13.11 pre ...... f sporadic epilepsy syndromes.
@ast
Rare deletions at 16p13.11 pre ...... f sporadic epilepsy syndromes.
@en
P2093
P2860
P50
P1476
Rare deletions at 16p13.11 pre ...... f sporadic epilepsy syndromes.
@en
P2093
Aatif M Husain
Anne-Mari Kantanen
Bernhard J Steinhoff
Chantal Depondt
Colin P Doherty
Curtis E Gumbs
Dalia Kasperaviciūte
David B Goldstein
David Hosford
David Leppert
P2860
P304
P356
10.1016/J.AJHG.2010.03.018
P407
P50
P577
2010-04-15T00:00:00Z