(Q35790038)

English

Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease

scientific article published on November 2005

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Statements

scholarly article

1 reference

Europe PubMed Central

10 August 2017

Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease (English)

1 reference

Europe PubMed Central

10 August 2017

mitochondrial DNA

0 references

mitochondrial disease

1 reference

based on heuristic

inferred from title

author name string

Ren-Kui Bai

1

1 reference

Europe PubMed Central

10 August 2017

Lee-Jun C Wong

2

1 reference

Europe PubMed Central

10 August 2017

publication date

1 November 2005

1 reference

Europe PubMed Central

10 August 2017

The Journal of Molecular Diagnostics

1 reference

Europe PubMed Central

10 August 2017

7

1 reference

Europe PubMed Central

10 August 2017

5

1 reference

Europe PubMed Central

10 August 2017

613-622

1 reference

Europe PubMed Central

10 August 2017

Molecular analysis for mitochondrial DNA disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867556

12 July 2018

Large-scale copy number polymorphism in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867556

12 July 2018

Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867556

12 July 2018

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867556

12 July 2018

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867556

12 July 2018

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867556

12 July 2018

Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in myoclonus epilepsy and ragged-red fibers (MERRF) syndrome by a multiplex molecular beacon based real-time fluorescence PCR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867556

12 July 2018

Molecular characterization of ribosomal gene variation within and among NORs segregating in specialized populations of chicken

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867556

12 July 2018

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867556

12 July 2018

Sequence and organization of the human mitochondrial genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867556

12 July 2018

A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867556

12 July 2018

Diseases of the mitochondrial DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867556

12 July 2018

Extensive investigations of mitochondrial DNA genome in treated HIV-infected subjects: beyond mitochondrial DNA depletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867556

25 September 2018

Clinical features of A3243G mitochondrial tRNA mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867556

25 September 2018

Implications of using the ND1 gene as a control region for real-time PCR analysis of mitochondrial DNA deletions in human skin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867556

25 September 2018

Quantitative PCR analysis of mitochondrial DNA content in patients with mitochondrial disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867556

25 September 2018

Quantification of mitochondrial DNA deletion, depletion, and overreplication: application to diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867556

25 September 2018

Diagnostic criteria for respiratory chain disorders in adults and children.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867556

25 September 2018

Comprehensive scanning of the entire mitochondrial genome for mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867556

25 September 2018

Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867556

25 September 2018

Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/16258160

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased mitochondrial DNA in blood vessels and ragged-red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

1 reference

https://pubmed.ncbi.nlm.nih.gov/16258160

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Yield of mtDNA mutation analysis in 2,000 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/16258160

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantification of human mitochondrial DNA in a real time PCR

1 reference

https://pubmed.ncbi.nlm.nih.gov/16258160

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct detection of multiple point mutations in mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/16258160

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial encephalomyopathies:gene mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16258160

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach

1 reference

https://pubmed.ncbi.nlm.nih.gov/16258160

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A cystic fibrosis patient with two novel mutations in mitochondrial DNA: mild disease led to delayed diagnosis of both disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/16258160

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial gene mutations in the tRNA(Leu(UUR)) region and diabetes: prevalence and clinical phenotypes in Japan

1 reference

https://pubmed.ncbi.nlm.nih.gov/16258160

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative, noninvasive tissues for quantitative screening of mutant mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/16258160

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/S1525-1578(10)60595-8

1 reference

Europe PubMed Central

10 August 2017

1 reference

Europe PubMed Central

10 August 2017

1 reference

Europe PubMed Central

10 August 2017

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