Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders. - Wikidata - awgldk - TriplyDB

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.

http://www.wikidata.org/entity/Q37397662

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Investigating the effects of copy number variants on reading and language performance.Overexpression of Homer1a in the basal and lateral amygdala impairs fear conditioning and induces an autism-like social impairment A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders.The RhoGEF DOCK10 is essential for dendritic spine morphogenesis Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior A genome wide association study of mathematical ability reveals an association at chromosome 3q29, a locus associated with autism and learning difficulties: a preliminary study.The emerging role of guanine nucleotide exchange factors in ALS and other neurodegenerative diseases.The clinical significance of small copy number variants in neurodevelopmental disorders A candidate gene association study further corroborates involvement of contactin genes in autism A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.Partial Deletion of Chromosome 1p31.1 Including only the Neuronal Growth Regulator 1 Gene in Two Siblings Manduca Contactin Regulates Amyloid Precursor Protein-Dependent Neuronal Migration.Dock protein family in brain development and neurological disease.Dysfunctional HCN ion channels in neurological diseases.Endosomal system genetics and autism spectrum disorders: A literature review.Autism genetics - an overview.Absence of substantial copy number differences in a pair of monozygotic twins discordant for features of autism spectrum disorder.Intragenic CNTNAP2 Deletions: A Bridge Too Far?Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.Functional significance of rare neuroligin 1 variants found in autism Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.Glycosylphosphatidylinositol-Anchored Immunoglobulin Superfamily Cell Adhesion Molecules and Their Role in Neuronal Development and Synapse Regulation.Excessive UBE3A dosage impairs retinoic acid signaling and synaptic plasticity in autism spectrum disorders.Maturation, Refinement, and Serotonergic Modulation of Cerebellar Cortical Circuits in Normal Development and in Murine Models of Autism.Cntn6 deficiency impairs allocentric navigation in mice.Synaptic Disorders Association of Copy Number Variations in Autism Spectrum Disorders: A Systematic Review

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Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.

http://www.wikidata.org/entity/Q37397662

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on May 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Prospective diagnostic analysi ...... ith autism spectrum disorders.

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Prospective diagnostic analysi ...... ith autism spectrum disorders.

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Prospective diagnostic analysi ...... ith autism spectrum disorders.

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Prospective diagnostic analysi ...... ith autism spectrum disorders.

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Prospective diagnostic analysi ...... ith autism spectrum disorders.

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Prospective diagnostic analysi ...... ith autism spectrum disorders.

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European Journal of Human Genetics

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Prospective diagnostic analysi ...... ith autism spectrum disorders.

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Agnès Rastetter

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Alexandra Afenjar

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Anne Faudet

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Aurélia Jacquette

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Boris Keren

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Caroline Nava

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Christel Depienne

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Claire Amiet

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Claudine Laurent

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Cyril Mignot

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P2860

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

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

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.

Rare structural variation of synapse and neurotransmission genes in autism

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Impaired adrenocorticotropic hormone response to bacterial endotoxin in mice deficient in prostaglandin E receptor EP1 and EP3 subtypes

15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Association between microdeletion and microduplication at 16p11.2 and autism

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10.1038/EJHG.2013.88

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Autism spectrum

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