(Q36927077)

English

Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development

scientific article published on 11 May 2006

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development (English)

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

mitochondrial DNA

0 references

lactic acidosis

1 reference

based on heuristic

inferred from title

14

object named as

Munnich A

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

author name string

Bouchet C

1

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Steffann J

2

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Corcos J

3

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Monnot S

4

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Paquis V

5

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Rötig A

6

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Lebon S

7

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Levy P

8

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Royer G

9

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Giurgea I

10

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Gigarel N

11

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Benachi A

12

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Dumez Y

13

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Bonnefont JP

15

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

language of work or name

0 references

publication date

11 May 2006

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

43

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

10

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

788-792

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Progress in genetic counselling and prenatal diagnosis of maternally inherited mtDNA diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563165

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563165

29 September 2017

Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563165

29 September 2017

Mitochondrial genotype segregation during preimplantation development in mouse heteroplasmic embryos

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563165

29 September 2017

Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563165

29 September 2017

Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563165

29 September 2017

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563165

27 June 2018

MELAS: clinical features, biochemistry, and molecular genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563165

27 June 2018

Tissue specific distribution of the 3243A->G mtDNA mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563165

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563165

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563165

4 September 2018

Heteroplasmy of the A3243G transition of mitochondrial tRNA(Leu(UUR)) in a MELAS case and in a 25-week-old miscarried fetus

1 reference

https://pubmed.ncbi.nlm.nih.gov/16690729

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16690729

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2005.034140

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

ResearchGate publication ID

0 references

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