about
Genetics of bipolar disorderThe Kraepelinian dichotomy - going, going... but still not goneA locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3.Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsyA genome-wide study of common SNPs and CNVs in cognitive performance in the CANTABGenetics of Autism Spectrum Disorder: Current Status and Possible Clinical ApplicationsA mouse model of the 15q13.3 microdeletion syndrome shows prefrontal neurophysiological dysfunctions and attentional impairment.Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental MechanismsStructures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Protocadherin α (PCDHA) as a novel susceptibility gene for autismMassive screening of copy number population-scale variation in Bos taurus genomeChrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes.Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in miceAutism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans.Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsiesDevelopmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsiesGenomic insights into the overlap between psychiatric disorders: implications for research and clinical practice.Genomics, intellectual disability, and autismReduced CHRNA7 expression in C3H mice is associated with increases in hippocampal parvalbumin and glutamate decarboxylase-67 (GAD67) as well as altered levels of GABA(A) receptor subunits.Microdeletions of 3q29 confer high risk for schizophrenia.Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.Advances in the genetics of schizophrenia: will high-risk copy number variants be useful in clinical genetics or diagnostics?Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorderThe phenotype of recurrent 10q22q23 deletions and duplications.Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample.Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.Observations on Copy Number Variations in a Kidney-yang Deficiency Syndrome Family.Genomic copy number variation in disorders of cognitive development.Rare copy number variants are an important cause of epileptic encephalopathies.Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia.An assessment of sex bias in neurodevelopmental disorders.The human clinical phenotypes of altered CHRNA7 copy numberFamilial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritanceClinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular eraPhenotypic heterogeneity of genomic disorders and rare copy-number variants.Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome.A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.
P2860
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P2860
description
2008 nî lūn-bûn
@nan
2008 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
A 15q13.3 microdeletion segregating with autism.
@ast
A 15q13.3 microdeletion segregating with autism.
@en
A 15q13.3 microdeletion segregating with autism.
@nl
type
label
A 15q13.3 microdeletion segregating with autism.
@ast
A 15q13.3 microdeletion segregating with autism.
@en
A 15q13.3 microdeletion segregating with autism.
@nl
prefLabel
A 15q13.3 microdeletion segregating with autism.
@ast
A 15q13.3 microdeletion segregating with autism.
@en
A 15q13.3 microdeletion segregating with autism.
@nl
P2093
P2860
P50
P356
P1476
A 15q13.3 microdeletion segregating with autism.
@en
P2093
Alistair T Pagnamenta
Anthony J Bailey
Eftichia Duketis
Elham Sadighi Akha
Gabriele Schmötzer
International Molecular Genetic Study of Autism Consortium
Jiannis Ragoussis
Sabine M Klauck
Samantha J L Knight
P2860
P2888
P304
P356
10.1038/EJHG.2008.228
P577
2008-12-03T00:00:00Z
P5875
P6179
1029981433