Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE
about
A genetic model for neurodevelopmental diseaseAnalysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHERhoGTPase Regulators Orchestrate Distinct Stages of Synaptic Development.Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorderEnriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits.Severe learning deficits of IRSp53 mutant mice are caused by altered NMDA receptor dependent signal transduction.Bio-collections in autism research.The genetic variability and commonality of neurodevelopmental disease.A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile.The dwarf phenotype in GH240B mice, haploinsufficient for the autism candidate gene Neurobeachin, is caused by ectopic expression of recombinant human growth hormone.Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.Nuclear Localization of the Autism Candidate Gene Neurobeachin and Functional Interaction with the NOTCH1 Intracellular Domain Indicate a Role in Regulating Transcription.Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorderPregnancy at Advanced Maternal Age Affects Behavior and Hippocampal Gene Expression in Mouse Offspring.Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disordersRare complete knockouts in humans: population distribution and significant role in autism spectrum disordersA common deletion in the APOBEC3 genes and breast cancer risk.AKAPs integrate genetic findings for autism spectrum disorders.Inverted low-copy repeats and genome instability--a genome-wide analysisAPOBEC3 deletion polymorphism is associated with breast cancer risk among women of European ancestry.Platelets of mice heterozygous for neurobeachin, a candidate gene for autism spectrum disorder, display protein changes related to aberrant protein kinase A activityDevelopmental psychopathology: the role of structural variation in the genome.Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era.Regulation of SPRY3 by X chromosome and PAR2-linked promoters in an autism susceptibility region.Identification of likely associations between cerebral folate deficiency and complex genetic- and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach.Carnitine transport and fatty acid oxidation.Identification of novel candidate disease genes from de novo exonic copy number variants.Chromosomal microarray analysis, or comparative genomic hybridization: A high throughput approach.Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.Human carnitine biosynthesis proceeds via (2S,3S)-3-hydroxy-Nε-trimethyllysine.Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.The 30 kb deletion in the APOBEC3 cluster decreases APOBEC3A and APOBEC3B expression and creates a transcriptionally active hybrid gene but does not associate with breast cancer in the European population.IRSp53 accumulates at the postsynaptic density under excitatory conditions.The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes.Sex differences in children with autism spectrum disorder identified within a high-risk infant cohort.Systematic reconstruction of autism biology from massive genetic mutation profiles.
P2860
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P2860
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE
description
2011 nî lūn-bûn
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2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Use of array CGH to detect exo ...... ects a novel deletion in TMLHE
@ast
Use of array CGH to detect exo ...... ects a novel deletion in TMLHE
@en
Use of array CGH to detect exo ...... ects a novel deletion in TMLHE
@nl
type
label
Use of array CGH to detect exo ...... ects a novel deletion in TMLHE
@ast
Use of array CGH to detect exo ...... ects a novel deletion in TMLHE
@en
Use of array CGH to detect exo ...... ects a novel deletion in TMLHE
@nl
prefLabel
Use of array CGH to detect exo ...... ects a novel deletion in TMLHE
@ast
Use of array CGH to detect exo ...... ects a novel deletion in TMLHE
@en
Use of array CGH to detect exo ...... ects a novel deletion in TMLHE
@nl
P2093
P2860
P50
P356
P1476
Use of array CGH to detect exo ...... ects a novel deletion in TMLHE
@en
P2093
A Craig Chinault
A Gulhan Ercan-Sencicek
Aleksandar Milosavljevic
Arthur L Beaudet
Jennifer R German
Matthew W State
Michael T Murtha
Patricia B S Celestino-Soper
P2860
P304
P356
10.1093/HMG/DDR363
P577
2011-08-24T00:00:00Z