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

author

Christian T Thiel

André Reis

1960 -

Arif B. Ekici

Anita Rauch

1967 -

published in: European Journal of Human Genetics

date of publication: 2003-02-01

Cites articles 28

Date

Title

Authors

2001-06-01

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

Nicholas Katsanis
2000-11-01

Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR
2000-11-01

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 liability to pressure palsies
1998-04-01

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

Daniel G Remick
1998-02-01

Advances in quantitative PCR technology: 5' nuclease assays
1998-01-01

Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A-REP repeat
1998-11-01

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

Ivan Bieche
1997-05-01

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

Joerg T. Epplen
1997-01-01

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

Christine Van Broeckhoven
1996-10

Real time quantitative PCR

Kenneth J Livak
1996-01-01

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

Francesc Palau, Xavier Estivill i Pallejà
1996-07-01

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

Arif B. Ekici
1995-07-01

Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques
1995-10-01

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

Kenneth J Livak
1994-02-01

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

Pragna I Patel
1993-01-01

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

Christine Disteche
1993-11-01

Charcot-Marie-Tooth syndrome
1992-06-01

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

Eric Manvers Shooter, Pragna I Patel
1992-04-01

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

Pragna I Patel
1992-06-01

Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.
1992-01-01

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

Wim Van Hul, Christine Van Broeckhoven
1992-06

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

Wim Van Hul, Robin J Leach, Clemens O. Hanemann
1992-06-01

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

Vincent P Stanton
1992-10-01

The Charcot-Marie-Tooth syndrome: perceptions of disability and projected use of DNA diagnostic tests
1991-01-01

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group

Frank Baas
1991-07-01

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

Pragna I Patel
1988-02-11

A simple salting out procedure for extracting DNA from human nucleated cells
1974-01-01

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

Article - wd:Q44360476

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