MLPA and MAPH: sensitive detection of deletions and duplications (Q37144406)

18 August 2017

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title

MLPA and MAPH: sensitive detection of deletions and duplications (English)

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18 August 2017

Johan T den Dunnen

1

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PubMed ID

18428396

18 August 2017

Stefan J White

series ordinal

2

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18 August 2017

1 November 2006

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Current protocols in human genetics / editorial board, Nicholas C, Dracapoli ... [et al.]

18 August 2017

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18 August 2017

Chapter 7

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18 August 2017

Unit 7.14

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Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

18 August 2017

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

Measurement of locus copy number by hybridisation with amplifiable probes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

Detection of large-scale variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

Deletion and duplication screening in the DMD gene using MLPA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

Spinal muscular atrophy: molecular genetics and diagnostics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

Fine-scale structural variation of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

Identification of disease genes by whole genome CGH arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0714S51

10.1002/0471142905.HG0714S51

21 January 2018

Identifiers

DOI

1 reference

release_nbt3psaklvhr5ducxduvshl5le

18 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/nbt3psaklvhr5ducxduvshl5le

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

18428396

1 reference

PubMed ID

18428396