(Q33325729)

31 May 2018

title

Minisequencing mitochondrial DNA pathogenic mutations (English)

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31 May 2018

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Francisco Barros

2

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author name string

Vanesa Alvarez-Iglesias

series ordinal

1

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31 May 2018

Angel Carracedo

series ordinal

3

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31 May 2018

Antonio Salas

series ordinal

4

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31 May 2018

publication date

10 April 2008

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31 May 2018

published in

BMC Medical Genetics

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31 May 2018

volume

9

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31 May 2018

page(s)

26

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31 May 2018

https://scigraph.springernature.com/pub.10.1186/1471-2156-9-26

exact match

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cites work

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21 June 2018

Mitochondrial disease

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21 June 2018

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21 June 2018

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21 June 2018

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A reappraisal of complete mtDNA variation in East Asian families with hearing impairment

21 June 2018

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A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy

21 June 2018

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Results of the 2003-2004 GEP-ISFG collaborative study on mitochondrial DNA: focus on the mtDNA profile of a mixed semen-saliva stain

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21 June 2018

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More evidence for non-maternal inheritance of mitochondrial DNA?

21 June 2018

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Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.

21 June 2018

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21 June 2018

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The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool

21 June 2018

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Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy

21 June 2018

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Mitochondrial DNA affinities at the Atlantic fringe of Europe

21 June 2018

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The fingerprint of phantom mutations in mitochondrial DNA data

21 June 2018

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Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups

21 June 2018

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21 June 2018

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Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

21 June 2018

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mtDNA analysis of the Galician population: a genetic edge of European variation

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2377236

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2377236

Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2377236

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2377236

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2377236

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2377236

An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2377236

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2377236

The search of 'novel' mtDNA mutations in hypertrophic cardiomyopathy: MITOMAPping as a risk factor

21 June 2018

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High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients.

31 October 2018

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Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).

31 October 2018

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Sequence variation in mitochondrial complex I genes: mutation or polymorphism?

31 October 2018

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Problems in FBI mtDNA database.

31 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2377236

Artificial recombination in forensic mtDNA population databases.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2377236

Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2377236

Rapid screening of mtDNA coding region SNPs for the identification of west European Caucasian haplogroups.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2377236

A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population genetics

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2377236

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

31 October 2018

1 reference

12 December 2020

Clinical and molecular characterization of Wilson disease in Spanish patients

1 reference

12 December 2020

Fluorescent SSCP of overlapping fragments (FSSCP-OF): a highly sensitive method for the screening of mitochondrial DNA variation

1 reference

12 December 2020

Rapid and enhanced detection of mitochondrial DNA variation using single-strand conformation analysis of superposed restriction enzyme fragments from polymerase chain reaction-amplified products

1 reference

12 December 2020

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

1 reference

12 December 2020

Coding region mitochondrial DNA SNPs: Targeting East Asian and Native American haplogroups

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12 December 2020

Proving pathogenicity: when evolution is not enough

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2156-9-26

1 reference

31 May 2018

Dimensions Publication ID

0 references

1 reference

31 May 2018

PubMed ID

18402672

1 reference

31 May 2018