CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree. - Wikidata - wikimedia - TriplyDB

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

http://www.wikidata.org/entity/Q34055765

about

Mechanisms underlying structural variant formation in genomic disorders Major influence of repetitive elements on disease-associated copy number variants (CNVs)Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes.Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.Absence of heterozygosity due to template switching during replicative rearrangements.Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype.The human clinical phenotypes of altered CHRNA7 copy number Rpph1 Upregulates CDC42 Expression and Promotes Hippocampal Neuron Dendritic Spine Formation by Competing with miR-330-5p.Double, Double Toil and Trouble.Nicotine Elicits Convulsive Seizures by Activating Amygdalar Neurons.Genomic disorders 20 years on-mechanisms for clinical manifestations.Inhibition of breast cancer cell proliferation and tumorigenesis by long non-coding RNA RPPH1 down-regulation of miR-122 expression.Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility

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CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

http://www.wikidata.org/entity/Q34055765

description

2014 nî lūn-bûn

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2014 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2014 թվականի հունվարին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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name

CHRNA7 triplication associated ...... n a three-generation pedigree.

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CHRNA7 triplication associated ...... n a three-generation pedigree.

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CHRNA7 triplication associated ...... n a three-generation pedigree.

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CHRNA7 triplication associated ...... n a three-generation pedigree.

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CHRNA7 triplication associated ...... n a three-generation pedigree.

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CHRNA7 triplication associated ...... n a three-generation pedigree.

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CHRNA7 triplication associated ...... n a three-generation pedigree.

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CHRNA7 triplication associated ...... n a three-generation pedigree.

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European Journal of Human Genetics

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CHRNA7 triplication associated ...... in a three-generation pedigree

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P2093

Christian P Schaaf

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Claudia M B Carvalho

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Erin K Roney

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James R Lupski

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Jun Ge

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Katarzyna E Kolodziejska

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Patricia I Bader

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Pawel Stankiewicz

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Rachel M Miller

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Sau Wai Cheung

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P2860

Mechanisms of change in gene copy number

Microduplication and triplication of 22q11.2: a highly variable syndrome.

Axonal α7 nicotinic ACh receptors modulate presynaptic NMDA receptor expression and structural plasticity of glutamatergic presynaptic boutons

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

A copy number variation morbidity map of developmental delay

Increased LIS1 expression affects human and mouse brain development

The brain alpha7 nicotinic receptor may be an important therapeutic target for the treatment of Alzheimer's disease: studies with DMXBA (GTS-21).

Neurogenetics: advancing the "next-generation" of brain research.

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.

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1071-1076

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scholarly article

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10.1038/EJHG.2013.302

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9

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22

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Claudia Soler-Alfonso

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2014-01-15T00:00:00Z

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259724598

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24424125

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