(Q36762838)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23269497%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

review article

1 reference

title

Molecular genetic testing for mitochondrial disease: from one generation to the next (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23269497%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

main subject

mitochondrial disease

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23269497%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

author name string

Elizabeth McCormick

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23269497%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Emily Place

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23269497%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

publication date

1 April 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23269497%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23269497%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

volume

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23269497%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23269497%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

page(s)

251-261

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23269497%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s13311-012-0174-1

21 February 2020

exact match

0 references

cites work

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1 reference

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Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.

29 September 2017

1 reference

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Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

29 September 2017

1 reference

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29 September 2017

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Polymerase gamma disease through the ages

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625386

Molecular genetics of mitochondrial disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625386

Historical perspective on mitochondrial medicine

29 September 2017

1 reference

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High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

29 September 2017

1 reference

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Neurodevelopmental manifestations of mitochondrial disease.

29 September 2017

1 reference

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The Mitochondrial Proteome and Human Disease

29 September 2017

1 reference

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Recent advances in the genetics of mitochondrial encephalopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625386

Current molecular diagnostic algorithm for mitochondrial disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625386

A mitochondrial protein compendium elucidates complex I disease biology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625386

The in-depth evaluation of suspected mitochondrial disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625386

Mitochondrial disease: a practical approach for primary care physicians.

29 September 2017

1 reference

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Cybrid models of mtDNA disease and transmission, from cells to mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625386

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625386

The primary care physician's approach to congenital anomalies.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625386

Mitochondrial respiratory-chain diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625386

Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625386

MITOMAP: a human mitochondrial genome database

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625386

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625386

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625386

Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625386

The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution

28 June 2018

1 reference

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Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes

5 September 2018

1 reference

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Characterization of mitochondrial DNA heteroplasmy using a parallel sequencing system.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625386

Developing a systematic approach to the diagnosis and classification of mitochondrial disease

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625386

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

5 September 2018

1 reference

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Diagnostic criteria for respiratory chain disorders in adults and children.

5 September 2018

1 reference

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Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625386

Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

5 September 2018

1 reference

12 December 2020

Comprehensive one-step molecular analyses of mitochondrial genome by massively parallel sequencing

1 reference

12 December 2020

Analysis of mitochondrial DNA point mutation heteroplasmy by ARMS quantitative PCR

1 reference

12 December 2020

A new mitochondrial DNA mutation (A3288G) in the tRNALeu(UUR) gene associated with familial myopathy

1 reference

12 December 2020

10.1007/S13311-012-0174-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23269497%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23269497%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

PubMed publication ID

23269497

1 reference