Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. - Wikidata - awgldk - TriplyDB

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

http://www.wikidata.org/entity/Q33874840

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Identification of unique microRNA signature associated with lupus nephritis Genetics of bipolar disorder Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia Shared heritability of attention-deficit/hyperactivity disorder and autism spectrum disorder MicroRNAs: Key Regulators in the Central Nervous System and Their Implication in Neurological Diseases Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications The human CHRNA7 and CHRFAM7A genes: A review of the genetics, regulation, and function Following the genes: a framework for animal modeling of psychiatric disorders Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns A mouse model of the 15q13.3 microdeletion syndrome shows prefrontal neurophysiological dysfunctions and attentional impairment.Genetic aspects of autism spectrum disorders: insights from animal models Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities Infant siblings and the investigation of autism risk factors Pharmacological Characterisation of Nicotinic Acetylcholine Receptors Expressed in Human iPSC-Derived Neurons Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes.Increased de novo copy number variants in the offspring of older males Simultaneous copy number losses within multiple subtelomeric regions in early-onset type 2 diabetes mellitus 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 Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies Women's posttraumatic stress symptoms and autism spectrum disorder in their children.Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice.Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder: evidence from copy number variants A de novo convergence of autism genetics and molecular neuroscience.Prioritization of epilepsy associated candidate genes by convergent analysis.New Genetic Findings in Schizophrenia: Is there Still Room for the Dopamine Hypothesis of Schizophrenia?Bio-collections in autism research.Functional autonomic nervous system profile in children with autism spectrum disorder.Genomics, intellectual disability, and autism Proteomic analysis of an alpha7 nicotinic acetylcholine receptor interactome.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.Cortical parvalbumin GABAergic deficits with α7 nicotinic acetylcholine receptor deletion: implications for schizophrenia.A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

P2860

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P2860

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

http://www.wikidata.org/entity/Q33874840

description

2008 nî lūn-bûn

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2008 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2008 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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Microdeletion/duplication at 1 ...... er neuropsychiatric disorders.

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Microdeletion/duplication at 1 ...... er neuropsychiatric disorders.

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Microdeletion/duplication at 1 ...... er neuropsychiatric disorders.

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Microdeletion/duplication at 1 ...... er neuropsychiatric disorders.

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Journal of Medical Genetics

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Microdeletion/duplication at 1 ...... er neuropsychiatric disorders.

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A Poduri

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A Reinhard

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H Dickinson

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P2860

Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures

The genetics of autistic disorders and its clinical relevance: a review of the literature

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

The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions

Strong association of de novo copy number mutations with autism

Structural variation of chromosomes in autism spectrum disorder

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

Linkage disequilibrium for schizophrenia at the chromosome 15q13-14 locus of the alpha7-nicotinic acetylcholine receptor subunit gene (CHRNA7)

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

The autism-epilepsy connection

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242-248

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James F. Gusella

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Konasale M. Prasad

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18805830

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