(Q42121096)

English

Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies

scientific article published on June 2005

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies (English)

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

hereditary neuropathy with liability to pressure palsies

0 references

author name string

Jong Rak Choi

1

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

Woon Hyoung Lee

2

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

Il Nam Sunwoo

3

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

Eun Kyung Lee

4

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

Chang Hoon Lee

5

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

Jong Baeck Lim

6

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

publication date

1 June 2005

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

Yonsei Medical Journal

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

46

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

3

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

347-352

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

copyright license

Creative Commons Attribution-NonCommercial 3.0 Unported

1 January 2005

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Rapid detection of duplication/deletion of the PMP22 gene in patients with Charcot-Marie-Tooth disease Type 1A and hereditary neuropathy with liability to pressure palsy by real-time quantitative PCR using SYBR Green I dye.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815810

29 May 2018

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815810

29 May 2018

Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815810

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815810

29 May 2018

Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815810

29 May 2018

De-novo mutation in hereditary motor and sensory neuropathy type I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815810

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815810

17 August 2018

Evaluation of HER2/neu status by real-time quantitative PCR in breast cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815810

17 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815810

17 August 2018

Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a)

1 reference

https://pubmed.ncbi.nlm.nih.gov/15988805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15988805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15988805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR

1 reference

https://pubmed.ncbi.nlm.nih.gov/15988805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A

1 reference

https://pubmed.ncbi.nlm.nih.gov/15988805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Normalized Southern Hybridization to Enhance Testing for Charcot-Marie-Tooth Disease, Type 1A

1 reference

https://pubmed.ncbi.nlm.nih.gov/15988805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies

1 reference

https://pubmed.ncbi.nlm.nih.gov/15988805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

https://pubmed.ncbi.nlm.nih.gov/15988805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15988805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15988805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determination of gene dosage at the PMP22 and androgen receptor loci by quantitative PCR

1 reference

https://pubmed.ncbi.nlm.nih.gov/15988805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP)

1 reference

https://pubmed.ncbi.nlm.nih.gov/15988805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15988805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15988805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging

1 reference

https://pubmed.ncbi.nlm.nih.gov/15988805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.3349/YMJ.2005.46.3.347

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

ResearchGate publication ID

0 references

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