The genetic variability and commonality of neurodevelopmental disease.
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Imaging Brain Development: Benefiting from Individual VariabilityHidden Markov Model-Based CNV Detection Algorithms for Illumina Genotyping MicroarraysThalamic reticular impairment underlies attention deficit in Ptchd1(Y/-) mice.Genetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical LandscapeThe clustering of functionally related genes contributes to CNV-mediated diseaseThe genetics of reading disabilities: from phenotypes to candidate genesState-dependent architecture of thalamic reticular subnetworks.Uncovering the etiology of autism spectrum disorders: genomics, bioinformatics, environment, data collection and exploration, and future possibilities.Genome-wide copy number variation in sporadic amyotrophic lateral sclerosis in the Turkish population: deletion of EPHA3 is a possible protective factor.Paternal age and psychiatric disorders: A review.Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairmentTranscriptomic analysis of genetically defined autism candidate genes reveals common mechanisms of actionMaternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.Family-Based Benchmarking of Copy Number Variation Detection Software.Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophreniaA Two-Hit Model of Autism: Adolescence as the Second HitProfiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiologyGlobal increases in both common and rare copy number load associated with autism.Autism risk across generations: a population-based study of advancing grandpaternal and paternal age.SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.Low-Frequency Copy-Number Variants and General Cognitive Ability: No Evidence of Association.Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.Distinct Defects in Spine Formation or Pruning in Two Gene Duplication Mouse Models of Autism.Genetic architecture of reciprocal CNVs.The genetic landscape of autism spectrum disorders.Transposable elements and psychiatric disorders.Annual research review: The (epi)genetics of neurodevelopmental disorders in the era of whole-genome sequencing--unveiling the dark matter.Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications.Autism genetics - an overview.Rare copy number variants are common in young children with autism spectrum disorder.Phase 2 of CATALISE: a multinational and multidisciplinary Delphi consensus study of problems with language development: TerminologyA role of genomic copy number variation in the complex behavioral phenotype of alcohol dependence: a commentary.Late breaking chromosomes.The effect of genetic polymorphisms of cytochrome P450 CYP2C9, CYP2C19, and CYP2D6 on drug-resistant epilepsy in Turkish children.Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy.A Family Study of Consanguinity in Children with Intellectual Disabilities in Barwani, India.Clinical interpretation of copy number variants in the human genome.Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies.
P2860
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P2860
The genetic variability and commonality of neurodevelopmental disease.
description
2012 nî lūn-bûn
@nan
2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի ապրիլին 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
The genetic variability and commonality of neurodevelopmental disease.
@ast
The genetic variability and commonality of neurodevelopmental disease.
@en
type
label
The genetic variability and commonality of neurodevelopmental disease.
@ast
The genetic variability and commonality of neurodevelopmental disease.
@en
prefLabel
The genetic variability and commonality of neurodevelopmental disease.
@ast
The genetic variability and commonality of neurodevelopmental disease.
@en
P2093
P2860
P356
P1476
The genetic variability and commonality of neurodevelopmental disease.
@en
P2093
Bradley P Coe
Evan E Eichler
Santhosh Girirajan
P2860
P304
P356
10.1002/AJMG.C.31327
P577
2012-04-12T00:00:00Z