Diagnostic genome profiling in mental retardation. - Test2 - elhamkhani - TriplyDB

Diagnostic genome profiling in mental retardation.

Diagnostic genome profiling in mental retardation.

http://www.wikidata.org/entity/Q34114527

about

Finding the missing heritability of complex diseases DUF1220 domains, cognitive disease, and human brain evolution Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1 Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children Large recurrent microdeletions associated with schizophrenia Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes Global variation in copy number in the human genome Gene copy number variation spanning 60 million years of human and primate evolution Application of array-based comparative genomic hybridization to clinical diagnostics Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns A genetic model for neurodevelopmental disease Mapping autism risk loci using genetic linkage and chromosomal rearrangements.Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients 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 Fast Bayesian Inference of Copy Number Variants using Hidden Markov Models with Wavelet Compression Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects The Danish 22q11 research initiative Properties and rates of germline mutations in humans Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Reduced purifying selection prevails over positive selection in human copy number variant evolution A copy number variation morbidity map of developmental delay Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy Increased de novo copy number variants in the offspring of older males The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome 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.A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders.Cytogenetic genotype-phenotype studies: improving genotyping, phenotyping and data storage.Automated array-CGH optimized for archival formalin-fixed, paraffin-embedded tumor material.Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR analysis.Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation.Complex aetiology of an apparently Mendelian form of mental retardation.Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes Whole genome scanning: resolving clinical diagnosis and management amidst complex data.Forging links between human mental retardation-associated CNVs and mouse gene knockout models.Accurate distinction of pathogenic from benign CNVs in mental retardation.

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Diagnostic genome profiling in mental retardation.

http://www.wikidata.org/entity/Q34114527

description

2005 nî lūn-bûn

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2005 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

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2005 թվականի օգոստոսին հրատարակված գիտական հոդված

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2005年の論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年论文

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name

Diagnostic genome profiling in mental retardation.

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Diagnostic genome profiling in mental retardation.

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Diagnostic genome profiling in mental retardation.

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type

label

Diagnostic genome profiling in mental retardation.

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Diagnostic genome profiling in mental retardation.

@en

Diagnostic genome profiling in mental retardation.

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prefLabel

Diagnostic genome profiling in mental retardation.

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Diagnostic genome profiling in mental retardation.

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Diagnostic genome profiling in mental retardation.

@nl

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American Journal of Human Genetics

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Diagnostic genome profiling in mental retardation.

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P2093

Ad Geurts van Kessel

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Bert B A de Vries

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Conny M A van Ravenswaaij-Arts

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David A Koolen

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Dominique Smeets

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Eric F P M Schoenmakers

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Erik H L P G Huys

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Han G Brunner

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Irene M Janssen

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Martijn Leisink

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P2860

Comparative study of methyl-CpG-binding domain proteins

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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

Detection of large-scale variation in the human genome

Subtle chromosomal rearrangements in children with unexplained mental retardation

Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro

KIF5C, a novel neuronal kinesin enriched in motor neurons

Chromosomal microdeletions: dissecting del22q11 syndrome

Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation

Large-scale copy number polymorphism in the human genome

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606-616

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Adrianus Henricus Maria Geurts van Kessel

Lisenka Vissers

Erik Sistermans

Joris A Veltman

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2005-08-30T00:00:00Z

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7587460

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