Measurement of locus copy number by hybridisation with amplifiable probes - sprookjes - yvandenbroek - TriplyDB

Measurement of locus copy number by hybridisation with amplifiable probes

Measurement of locus copy number by hybridisation with amplifiable probes

http://www.wikidata.org/entity/Q33612453

about

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification Microduplication and triplication of 22q11.2: a highly variable syndrome.Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster.A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis.Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns Appraisal of the technologies and review of the genomic landscape of ductal carcinoma in situ of the breast Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects Chromosome 21 and down syndrome: from genomics to pathophysiology Simple and versatile molecular method of copy-number measurement using cloned competitors Directional and balancing selection in human beta-defensins Comparison of multiplex ligation dependent probe amplification to immunohistochemistry for assessing HER-2/neu amplification in invasive breast cancer.Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA).Quadruplex MAPH: improvement of throughput in high-resolution copy number screening.From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.The functional impact of structural variation in humans.Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome.Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments.Copy number variation analysis by ligation-dependent PCR based on magnetic nanoparticles and chemiluminescence.Amplification ratio control system for copy number variation genotyping.Microarray MAPH: accurate array-based detection of relative copy number in genomic DNA.The detection of large deletions or duplications in genomic DNA.Telomeres: a diagnosis at the end of the chromosomes A comparison of methods for gene dosage analysis in HMSN type 1.High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH)Detection of aneuploidies by paralogous sequence quantification.Genomic imbalances in mental retardation."Down syndrome: an insight of the disease"Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.Copy number polymorphism in plant genomes Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy.MLGA--a rapid and cost-efficient assay for gene copy-number analysis Strategies for the detection of copy number and other structural variants in the human genome.Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.Copy number variation in the genome; the human DMD gene as an example.Screening of subtelomeric rearrangements in 100 Korean Pediatric patients with unexplained mental retardation and anomalies using subtelomeric FISH (fluorescence in situ hybridization).Methods for routine diagnosis of genomic rearrangements: multiplex PCR-based methods and future perspectives.MLPA and MAPH: sensitive detection of deletions and duplications.From cytogenetics to next-generation sequencing technologies: advances in the detection of genome rearrangements in tumors.Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization.

P2860

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P2860

Measurement of locus copy number by hybridisation with amplifiable probes

http://www.wikidata.org/entity/Q33612453

description

2000 nî lūn-bûn

@nan

2000 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2000年の論文

@ja

2000年論文

@yue

2000年論文

@zh-hant

2000年論文

@zh-hk

2000年論文

@zh-mo

2000年論文

@zh-tw

2000年论文

@wuu

name

Measurement of locus copy number by hybridisation with amplifiable probes

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Measurement of locus copy number by hybridisation with amplifiable probes

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type

label

Measurement of locus copy number by hybridisation with amplifiable probes

@ast

Measurement of locus copy number by hybridisation with amplifiable probes

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prefLabel

Measurement of locus copy number by hybridisation with amplifiable probes

@ast

Measurement of locus copy number by hybridisation with amplifiable probes

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P1433

Nucleic Acids Research

P1476

Measurement of locus copy number by hybridisation with amplifiable probes

@en

P2093

C Sismani

http://www.w3.org/2001/XMLSchema#string

G Cross

http://www.w3.org/2001/XMLSchema#string

J A Armour

http://www.w3.org/2001/XMLSchema#string

P C Patsalis

http://www.w3.org/2001/XMLSchema#string

P2860

Nanoliter scale PCR with TaqMan detection

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

Detection of specific sequences among DNA fragments separated by gel electrophoresis

Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas

Identification of a chromosome 18q gene that is altered in colorectal cancers

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors

Systematic cloning of human minisatellites from ordered array charomid libraries.

Fluorescence detection in automated DNA sequence analysis.

Molecular hybridization of radioactive DNA to the DNA of cytological preparations.

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605-609

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scholarly article

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10.1093/NAR/28.2.605

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2

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28

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2000-01-01T00:00:00Z

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10606661

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102499

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