Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation - Wikidata - awgldk - TriplyDB

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

http://www.wikidata.org/entity/Q35015843

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Rare deletions at the neurexin 3 locus in autism spectrum disorder Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children Neurexin 1 (NRXN1) deletions in schizophrenia Impact of whole genome amplification on analysis of copy number variants Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns Heterozygous deletion of α-neurexin I or α-neurexin II results in behaviors relevant to autism and schizophrenia.Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis Comparative analysis of copy number variation detection methods and database construction Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH.Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data.Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation.X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.Ploidy status and copy number aberrations in primary glioblastomas defined by integrated analysis of allelic ratios, signal ratios and loss of heterozygosity using 500K SNP Mapping Arrays.Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.Imaging genetics of structural brain connectivity and neural integrity markers.Does replication groups scoring reduce false positive rate in SNP interaction discovery?Copy number variation in the genomes of twelve natural isolates of Caenorhabditis elegans Conditional random pattern model for copy number aberration detection.Accurate distinction of pathogenic from benign CNVs in mental retardation.Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies Neurexin in embryonic Drosophila neuromuscular junctions.Comparison of social cognitive functioning in schizophrenia and high functioning autism: more convergence than divergence Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability.Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases.Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation.Guidelines for molecular karyotyping in constitutional genetic diagnosis.16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance.High-resolution genomic microarrays for X-linked mental retardation.Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.XLMR genes: update 2007.Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis

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Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

http://www.wikidata.org/entity/Q35015843

description

2006 nî lūn-bûn

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2006 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2006 թվականի հուլիսին հրատարակված գիտական հոդված

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2006年の論文

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2006年学术文章

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2006年学术文章

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2006年学术文章

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2006年学术文章

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2006年学术文章

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2006年學術文章

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name

Oligonucleotide microarray ana ...... ildren with mental retardation

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Oligonucleotide microarray ana ...... ildren with mental retardation

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type

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Oligonucleotide microarray ana ...... ildren with mental retardation

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Oligonucleotide microarray ana ...... ildren with mental retardation

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Oligonucleotide microarray ana ...... ildren with mental retardation

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American Journal of Human Genetics

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Oligonucleotide microarray ana ...... ildren with mental retardation

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P2093

Adrian Ally

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Agnes Baross

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Allen D Delaney

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Angelique Schnerch

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Anne Go

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Asim Siddiqui

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Barbara C McGillivray

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David L Charest

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Dione K Bailey

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Gary Wilson

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P2860

Structural variation in the human genome

Fine-scale structural variation of the human genome

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

The human genome browser at UCSC

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

BLAT--the BLAST-like alignment tool

Base-calling of automated sequencer traces using phred. II. Error probabilities

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

Detection of large-scale variation in the human genome

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10.1086/507471

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Evica Rajcan-Separovic

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6878920

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16909388

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