Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.
about
Large, rare chromosomal deletions associated with severe early-onset obesityMechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome RearrangementsTowards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders.Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review.Copy number variation in the porcine genome inferred from a 60 k SNP BeadChipIdentifying human disease genes through cross-species gene mapping of evolutionary conserved processes.Discovery of variants unmasked by hemizygous deletions.A candidate gene association study further corroborates involvement of contactin genes in autismPrenatal protein malnutrition decreases KCNJ3 and 2DG activity in rat prefrontal cortex.Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autismIonotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.7q36 deletion and 9p22 duplication: effects of a double imbalance.Glutamate receptor mutations in psychiatric and neurodevelopmental disorders.A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies.Functional enrichment analysis with structural variants: pitfalls and strategies.Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia.High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.Double, Double Toil and Trouble.Late breaking chromosomes.Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?Late breaking chromosomes.Lithium reduces the span of G protein-activated K(+) (GIRK) channel inhibition in hippocampal neurons.Glutamate receptors and learning and memory.Copy number variations in patients with electrical status epilepticus in sleep.Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions.
P2860
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P2860
Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունվարին 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
Recurrent copy number changes ...... he glutamate receptor complex.
@ast
Recurrent copy number changes ...... he glutamate receptor complex.
@en
Recurrent copy number changes ...... he glutamate receptor complex.
@nl
type
label
Recurrent copy number changes ...... he glutamate receptor complex.
@ast
Recurrent copy number changes ...... he glutamate receptor complex.
@en
Recurrent copy number changes ...... he glutamate receptor complex.
@nl
prefLabel
Recurrent copy number changes ...... he glutamate receptor complex.
@ast
Recurrent copy number changes ...... he glutamate receptor complex.
@en
Recurrent copy number changes ...... he glutamate receptor complex.
@nl
P2093
P2860
P356
P1476
Recurrent copy number changes ...... he glutamate receptor complex.
@en
P2093
Hans Kristian Ploos van Amstel
Marc J Eleveld
Martin Poot
Ron Hochstenbach
Ruben van 't Slot
P2860
P2888
P356
10.1038/EJHG.2009.120
P577
2010-01-01T00:00:00Z
P5875
P6179
1012593787