(Q37648873)

21 August 2017

Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy (English)

1 reference

21 August 2017

0 references

8

Salvatore DiMauro

1 reference

21 August 2017

Sara Shanske

1

1 reference

21 August 2017

Ali Naini

2

1 reference

21 August 2017

Ramen H Chmait

3

1 reference

21 August 2017

Hasan O Akman

4

1 reference

21 August 2017

Mahesh Mansukhani

5

1 reference

21 August 2017

Jiesheng Lu

6

1 reference

21 August 2017

Michio Hirano

7

1 reference

21 August 2017

24 April 2012

1 reference

Journal of Child Neurology

21 August 2017

1 reference

21 August 2017

28

1 reference

21 August 2017

2

1 reference

21 August 2017

264-268

1 reference

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959766

The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959766

Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959766

A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959766

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959766

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959766

Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959766

Prenatal diagnosis of mitochondrial DNA8993 T----G disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959766

Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959766

Cytochrome c oxidase deficiency in Leigh syndrome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959766

Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959766

A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959766

Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959766

Clinical and molecular findings in children with complex I deficiency

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959766

Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959766

Optical imaging techniques (histochemical, immunohistochemical, and in situ hybridization staining methods) to visualize mitochondria.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959766

Five years’ experience of preimplantation genetic diagnosis in the Parisian Center: outcome of the first 441 started cycles

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1177%2F0883073812441067

Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA

21 January 2018

1 reference

12 December 2020

Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA

1 reference

12 December 2020

A mitochondrial tRNA anticodon swap associated with a muscle disease

1 reference

12 December 2020

Fetal muscle biopsy: collaborative experience with varied indications

1 reference

12 December 2020

Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome

1 reference

12 December 2020

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia

1 reference

12 December 2020

Identifiers

DOI

10.1177/0883073812441067

1 reference

21 August 2017

1 reference

21 August 2017

1 reference