Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability - Wikidata - wikimedia - TriplyDB

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

http://www.wikidata.org/entity/Q24299949

about

Facial phenotypes in subgroups of prepubertal boys with autism spectrum disorders are correlated with clinical phenotypes Lamarckian evolution explains human brain evolution and psychiatric disorders Rare deletions at the neurexin 3 locus in autism spectrum disorder SHANK1 Deletions in Males with Autism Spectrum Disorder XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing Networking in autism: leveraging genetic, biomarker and model system findings in the search for new treatments Natural antisense transcripts CNVs: harbingers of a rare variant revolution in psychiatric genetics Kv4.2 and accessory dipeptidyl peptidase-like protein 10 (DPP10) subunit preferentially form a 4:2 (Kv4.2:DPP10) channel complex Thalamic reticular impairment underlies attention deficit in Ptchd1(Y/-) mice.Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?DPP6 establishes the A-type K(+) current gradient critical for the regulation of dendritic excitability in CA1 hippocampal neurons Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders.The prion protein modulates A-type K+ currents mediated by Kv4.2 complexes through dipeptidyl aminopeptidase-like protein 6 Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder The effects of aging on the BTBR mouse model of autism spectrum disorder.Over-expression of either MECP2_e1 or MECP2_e2 in neuronally differentiated cells results in different patterns of gene expression Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene.Targeted sequencing of the human X chromosome exome.Bio-collections in autism research.Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.Relative burden of large CNVs on a range of neurodevelopmental phenotypes.The genetic basis of non-syndromic intellectual disability: a review Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.The social brain network and autism Fine mapping of complex traits in non-model species: using next generation sequencing and advanced intercross lines in Japanese quail.DPP6 domains responsible for its localization and function.A PTCH1 homolog transcriptionally activated by p53 suppresses Hedgehog signaling Identification of candidate intergenic risk loci in autism spectrum disorder.Association testing to detect gene-gene interactions on sex chromosomes in trio data The ongoing dissection of the genetic architecture of autistic spectrum disorder The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.Turner syndrome and sexual differentiation of the brain: implications for understanding male-biased neurodevelopmental disorders Male gender bias in autism and pediatric autoimmunity Links between genetics and pathophysiology in the autism spectrum disorders.Sonic hedgehog functions upstream of disrupted-in-schizophrenia 1 (disc1): implications for mental illness.Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder

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P2860

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

http://www.wikidata.org/entity/Q24299949

description

2010 nî lūn-bûn

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2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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Disruption at the PTCHD1 Locus ...... er and intellectual disability

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Disruption at the PTCHD1 Locus ...... er and intellectual disability

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Disruption at the PTCHD1 Locus ...... er and intellectual disability

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Disruption at the PTCHD1 Locus ...... er and intellectual disability

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Disruption at the PTCHD1 Locus ...... er and intellectual disability

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Disruption at the PTCHD1 Locus ...... er and intellectual disability

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Disruption at the PTCHD1 Locus ...... er and intellectual disability

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Disruption at the PTCHD1 Locus ...... er and intellectual disability

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Disruption at the PTCHD1 Locus ...... er and intellectual disability

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Disruption at the PTCHD1 Locus ...... er and intellectual disability

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Disruption at the PTCHD1 Locus ...... er and intellectual disability

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Disruption at the PTCHD1 Locus ...... er and intellectual disability

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Disruption at the PTCHD1 Locus ...... er and intellectual disability

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P2860

Copy-number variations associated with neuropsychiatric conditions

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Cloning, expression, and initial characterization of a novel cytokine-like gene family

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

Gli proteins and the control of spinal-cord patterning

The function and expansion of the Patched- and Hedgehog-related homologs in C. elegans

Functional impact of global rare copy number variation in autism spectrum disorders

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

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Evica Rajcan-Separovic

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