Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method (Q48986959)

17 February 2018

title

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method (English)

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17 February 2018

Karine Poirier

6

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author name string

Yoann Saillour

1

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17 February 2018

Mireille Cossée

2

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France Leturcq

3

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Aurélie Vasson

4

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17 February 2018

Caroline Beugnet

5

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Virginie Commere

7

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Sébastien Sublemontier

8

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Marion Viel

9

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Franck Letourneur

10

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Jean Claude Barbot

11

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Nathalie Deburgrave

12

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Jamel Chelly

13

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Thierry Bienvenu

14

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17 February 2018

publication date

1 September 2008

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17 February 2018

published in

Human Mutation

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volume

29

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issue

9

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17 February 2018

page(s)

1083-1090

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17 February 2018

Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene

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Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome

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Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

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Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)

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7 January 2021

A tiling resolution DNA microarray with complete coverage of the human genome

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7 January 2021

Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA).

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7 January 2021

Deletion and duplication screening in the DMD gene using MLPA.

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7 January 2021

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

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Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

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7 January 2021

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

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7 January 2021

Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling

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7 January 2021

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

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7 January 2021

MLPA and MAPH: new techniques for detection of gene deletions

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7 January 2021

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

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7 January 2021

Duplications in the DMD gene

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20829

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17 February 2018

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17 February 2018