(Q43146786)

14 November 2017

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

1 reference

14 November 2017

5

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14 November 2017

12

Munnich A

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14 November 2017

Steffann J

1

1 reference

14 November 2017

Frydman N

2

1 reference

14 November 2017

Gigarel N

3

1 reference

14 November 2017

Burlet P

4

1 reference

14 November 2017

Fanchin R

6

1 reference

14 November 2017

Feyereisen E

7

1 reference

14 November 2017

Kerbrat V

8

1 reference

14 November 2017

Tachdjian G

9

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14 November 2017

Bonnefont JP

10

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14 November 2017

Frydman R

11

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14 November 2017

language of work or name

English

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publication date

9 September 2005

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Journal of Medical Genetics

14 November 2017

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14 November 2017

43

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14 November 2017

3

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14 November 2017

244-247

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Genetic features of mitochondrial respiratory chain disorders

14 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563237

Random genetic drift determines the level of mutant mtDNA in human primary oocytes

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563237

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563237

Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563237

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563237

Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: support for a genetic bottleneck

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563237

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563237

Quantitative and qualitative profiling of mitochondrial DNA length heteroplasmy.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563237

Comparison of mitochondrial DNA contents in human embryos with good or poor morphology at the 8-cell stage.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563237

Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563237

MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563237

Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563237

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

29 September 2018

1 reference

12 December 2020

74th ENMC international workshop: mitochondrial diseases 19-20 november 1999, Naarden, the netherlands

1 reference

12 December 2020

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

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

Nonrandom tissue distribution of mutant mtDNA

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2005.032326

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14 November 2017

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14 November 2017

1 reference