A 15q13.3 microdeletion segregating with autism. - Wikidata - awgldk - TriplyDB

A 15q13.3 microdeletion segregating with autism.

A 15q13.3 microdeletion segregating with autism.

http://www.wikidata.org/entity/Q34326191

about

Genetics of bipolar disorder The Kraepelinian dichotomy - going, going... but still not gone A 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 epilepsy A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications A mouse model of the 15q13.3 microdeletion syndrome shows prefrontal neurophysiological dysfunctions and attentional impairment.Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Protocadherin α (PCDHA) as a novel susceptibility gene for autism Massive screening of copy number population-scale variation in Bos taurus genome Chrna7 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 mice Autism 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 epilepsies Developmental 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 epilepsies Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice.Genomics, intellectual disability, and autism Reduced 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 disorder The 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 number Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era Phenotypic 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.

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A 15q13.3 microdeletion segregating with autism.

http://www.wikidata.org/entity/Q34326191

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

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2008年論文

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2008年論文

@zh-hant

2008年論文

@zh-hk

2008年論文

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2008年論文

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2008年论文

@wuu

name

A 15q13.3 microdeletion segregating with autism.

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A 15q13.3 microdeletion segregating with autism.

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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

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European Journal of Human Genetics

P1476

A 15q13.3 microdeletion segregating with autism.

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P2093

Alistair T Pagnamenta

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Anthony J Bailey

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Eftichia Duketis

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Elham Sadighi Akha

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Gabriele Schmötzer

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International Molecular Genetic Study of Autism Consortium

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Jiannis Ragoussis

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Sabine M Klauck

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Samantha J L Knight

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Mapping and sequencing of structural variation from eight human genomes

What’s new in autism?

Rare chromosomal deletions and duplications increase risk of schizophrenia

Strong association of de novo copy number mutations with autism

Impact of whole genome amplification on analysis of copy number variants

Large recurrent microdeletions associated with schizophrenia

Identifying autism loci and genes by tracing recent shared ancestry

Structural variation of chromosomes in autism spectrum disorder

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

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scholarly article

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10.1038/EJHG.2008.228

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5

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17

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Annemarie Poustka

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2008-12-03T00:00:00Z

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23563764

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19050728

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2986268

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