Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders
about
Tumor transcriptome sequencing reveals allelic expression imbalances associated with copy number alterationsRare chromosomal deletions and duplications increase risk of schizophreniaAbnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autismLarge, rare chromosomal deletions associated with severe early-onset obesityStrong synaptic transmission impact by copy number variations in schizophrenia.CNV and nervous system diseases--what's new?Autism spectrum disorders and childhood-onset schizophrenia: clinical and biological contributions to a relation revisitedThe neurodevelopmental hypothesis of schizophrenia, revisitedA unified genetic theory for sporadic and inherited autismAltered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.Major influence of repetitive elements on disease-associated copy number variants (CNVs)Smith-Magenis syndromeAfrican genetic diversity: implications for human demographic history, modern human origins, and complex disease mappingDevelopment of animal models for schizophrenia.Detecting non-allelic homologous recombination from high-throughput sequencing data.Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.T (brachyury) gene duplication confers major susceptibility to familial chordoma.X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approachComputing power and sample size for case-control association studies with copy number polymorphism: application of mixture-based likelihood ratio testAn integrated database-pipeline system for studying single nucleotide polymorphisms and diseases.A microhomology-mediated break-induced replication model for the origin of human copy number variation.Genomic landscape of a three-generation pedigree segregating affective disorder.Molecular cytogenetics and cytogenomics of brain diseases.Biomarker Validation for Aging: Lessons from mtDNA Heteroplasmy Analyses in Early Cancer Detection.Dosage sensitivity shapes the evolution of copy-number varied regions.Increased CNV-region deletions in mild cognitive impairment (MCI) and Alzheimer's disease (AD) subjects in the ADNI sampleGenetic variation of the Fc gamma receptor 3B gene and association with rheumatoid arthritis.Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.Analysis of protocadherin alpha gene enhancer polymorphism in bipolar disorder and schizophrenia.Current status on Alzheimer disease molecular genetics: from past, to present, to future.Genome-wide algorithm for detecting CNV associations with diseases.Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.The role of rare structural variants in the genetics of autism spectrum disorders.Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype.The transition between stochastic and deterministic behavior in an excitable gene circuit.The clinical significance of small copy number variants in neurodevelopmental disordersRecurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.Are we Genomic Mosaics? Variations of the Genome of Somatic Cells can Contribute to Diversify our PhenotypesNovel common copy number variation for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysis.
P2860
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P2860
Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders
description
2006 nî lūn-bûn
@nan
2006 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Genomic rearrangements and gen ...... se of nervous system disorders
@ast
Genomic rearrangements and gen ...... se of nervous system disorders
@en
Genomic rearrangements and gen ...... se of nervous system disorders
@nl
type
label
Genomic rearrangements and gen ...... se of nervous system disorders
@ast
Genomic rearrangements and gen ...... se of nervous system disorders
@en
Genomic rearrangements and gen ...... se of nervous system disorders
@nl
prefLabel
Genomic rearrangements and gen ...... se of nervous system disorders
@ast
Genomic rearrangements and gen ...... se of nervous system disorders
@en
Genomic rearrangements and gen ...... se of nervous system disorders
@nl
P3181
P1433
P1476
Genomic rearrangements and gen ...... se of nervous system disorders
@en
P2093
James R Lupski
Jennifer A Lee
P304
P3181
P356
10.1016/J.NEURON.2006.09.027
P407
P577
2006-10-05T00:00:00Z