A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. (Q44360476)

2 December 2017

title

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. (English)

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2 December 2017

Christian T Thiel

1

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André Reis

object named as

André Reis

series ordinal

6

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Arif B. Ekici

series ordinal

4

object named as

Arif B Ekici

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2 December 2017

3

Anita Rauch

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2 December 2017

Cornelia Kraus

2

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2 December 2017

Bernd Rautenstrauss

series ordinal

5

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2 December 2017

publication date

1 February 2003

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European Journal of Human Genetics

2 December 2017

published in

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2 December 2017

volume

11

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2 December 2017

issue

2

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2 December 2017

page(s)

170-178

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The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes

2 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications/deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

Tissue coexpression of LBP and CD14 mRNA in a mouse model of sepsis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

Real time quantitative PCR

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

Advances in quantitative PCR technology: 5' nuclease assays

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

7 January 2021

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

7 January 2021

Charcot-Marie-Tooth syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

7 January 2021

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

7 January 2021

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

7 January 2021

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

7 January 2021

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

7 January 2021

The Charcot-Marie-Tooth syndrome: perceptions of disability and projected use of DNA diagnostic tests

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

7 January 2021

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

7 January 2021

Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A-REP repeat

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

7 January 2021

Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

7 January 2021

Novel approach to quantitative polymerase chain reaction using real-time detection: application to the detection of gene amplification in breast cancer

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

7 January 2021

Use of a fluorogenic probe in a PCR-based assay for the detection of Listeria monocytogenes.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

7 January 2021

Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

7 January 2021

Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liabilit

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200920

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200920

1 reference

2 December 2017

1 reference