(Q42037714)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012411%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012411%20AND%20SRC:MED&resulttype=core&format=json

Leber hereditary optic neuropathy

31 October 2019

main subject

patient

0 references

1 reference

M D Brown

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012411%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

F Sun

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012411%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

D C Wallace

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012411%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

language of work or name

English

0 references

publication date

1 February 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012411%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

31 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012411%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012411%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012411%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

page(s)

381-387

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012411%20AND%20SRC:MED&resulttype=core&format=json

Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations

31 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712415

Leber's hereditary optic neuropathy. New genetic considerations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712415

Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712415

Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712415

mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712415

Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712415

Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712415

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712415

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712415

Leber hereditary optic neuropathy in Australia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712415

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712415

Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation

5 June 2018

1 reference

12 December 2020

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy

1 reference

12 December 2020

Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation

1 reference

12 December 2020

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

1 reference

12 December 2020

Monte Carlo tests for associations between disease and alleles at highly polymorphic loci

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012411%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

PubMed publication ID

9012411

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9012411%20AND%20SRC:MED&resulttype=core&format=json