Benign copy number changes in clinical cytogenetic diagnostics by array CGH - Wikidata - awgldk - TriplyDB

Benign copy number changes in clinical cytogenetic diagnostics by array CGH

Benign copy number changes in clinical cytogenetic diagnostics by array CGH

http://www.wikidata.org/entity/Q34060432

about

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families Interpretation of array comparative genome hybridization data: a major challenge.Amplification ratio control system for copy number variation genotyping.Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2.16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.A novel pseudo-dicentric variant of 16p11.2-q11.2 contains euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16q.Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?

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Benign copy number changes in clinical cytogenetic diagnostics by array CGH

http://www.wikidata.org/entity/Q34060432

description

2008 nî lūn-bûn

@nan

2008 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2008年の論文

@ja

2008年論文

@yue

2008年論文

@zh-hant

2008年論文

@zh-hk

2008年論文

@zh-mo

2008年論文

@zh-tw

2008年论文

@wuu

name

Benign copy number changes in clinical cytogenetic diagnostics by array CGH

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Benign copy number changes in clinical cytogenetic diagnostics by array CGH

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Benign copy number changes in clinical cytogenetic diagnostics by array CGH

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type

label

Benign copy number changes in clinical cytogenetic diagnostics by array CGH

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Benign copy number changes in clinical cytogenetic diagnostics by array CGH

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Benign copy number changes in clinical cytogenetic diagnostics by array CGH

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prefLabel

Benign copy number changes in clinical cytogenetic diagnostics by array CGH

@ast

Benign copy number changes in clinical cytogenetic diagnostics by array CGH

@en

Benign copy number changes in clinical cytogenetic diagnostics by array CGH

@nl

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Cytogenetics and Genome Research

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Benign copy number changes in clinical cytogenetic diagnostics by array CGH

@en

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A R Brothman

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A Tsalenko

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C Hopkins

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D K Bailey

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E Aston

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G Peters

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H Whitby

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L Bruhn

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P Bayrak-Toydemir

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P Tsang

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P2860

Mapping and sequencing of structural variation from eight human genomes

Paired-end mapping reveals extensive structural variation in the human genome

Global variation in copy number in the human genome

Detection of large-scale variation in the human genome

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

Large-scale copy number polymorphism in the human genome

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

Genotype, haplotype and copy-number variation in worldwide human populations

Efficient calculation of interval scores for DNA copy number data analysis.

Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR analysis.

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94-101

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scholarly article

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10.1159/000184696

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1-4

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123

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2008-01-01T00:00:00Z

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24201677

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19287143

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2920185

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