(Q35195112)

7 August 2017

title

Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre syndrome to her child (English)

1 reference

7 August 2017

main subject

Kearns-Sayre syndrome

1 reference

chromosomal deletion syndrome

inferred from title

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1734716

11 November 2022

1

Larsson NG

1 reference

7 August 2017

2

H. G. Eiken

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1734716

11 November 2022

author name string

N. G. Larsson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1734716

11 November 2022

H. Boman

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1734716

11 November 2022

E. Holme

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1734716

11 November 2022

A. Oldfors

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1734716

11 November 2022

M. H. Tulinius

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1734716

11 November 2022

language of work or name

English

0 references

publication date

1 February 1992

1 reference

full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1734716/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1734716

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1734716/?tool=EBI

11 November 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1734716

https://europepmc.org/articles/PMC1682461

11 November 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1734716

https://europepmc.org/articles/PMC1682461?pdf=render

11 November 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1734716

American Journal of Human Genetics

11 November 2022

published in

1 reference

7 August 2017

volume

50

1 reference

7 August 2017

issue

2

1 reference

7 August 2017

page(s)

360-363

1 reference

Kearns-Sayre syndrome in twins: Lethal dominant mutation or acquired disease?

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682461

Rapid segregation of heteroplasmic bovine mitochondria

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682461

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682461

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682461

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682461

Germ-line deletions of mtDNA in mitochondrial myopathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682461

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682461

Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682461

Leber's hereditary optic neuropathy and complex I deficiency in muscle.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682461

Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682461

Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy

27 September 2018

1 reference

12 December 2020

Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations

1 reference

12 December 2020

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

1 reference

12 December 2020

Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

1 reference

12 December 2020

Identifiers

PMC publication ID

1682461

1 reference

7 August 2017

1 reference