(Q34390017)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417290%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

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

1 reference

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10 December 2019

0 references

8

1 reference

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10 December 2019

author name string

White SL

1

1 reference

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10 December 2019

Collins VR

2

1 reference

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10 December 2019

Wolfe R

3

1 reference

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10 December 2019

Cleary MA

4

1 reference

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10 December 2019

Shanske S

5

1 reference

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10 December 2019

DiMauro S

6

1 reference

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10 December 2019

Dahl HH

7

1 reference

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10 December 2019

language of work or name

English

0 references

publication date

1 August 1999

1 reference

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American Journal of Human Genetics

10 December 2019

published in

1 reference

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10 December 2019

volume

65

1 reference

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10 December 2019

issue

2

1 reference

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10 December 2019

page(s)

474-482

1 reference

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Mitochondrial genetics '98 is the bottleneck cracked?

10 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

Leigh syndrome associated with mitochondrial DNA 8993 T-->G mutation and ragged-red fibers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

A T-to-G mutation at nucleotide pair 8993 in mitochondrial DNA in a patient with Leigh's syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

Brain and muscle energy metabolism studied in vivo by 31P-magnetic resonance spectroscopy in NARP syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

Maternally inherited Leigh syndrome.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

Origin, cellular expression, and cybrid transmission of mitochondrial CAP-R, PYR-IND, and OLI-R mutant phenotypes.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377946

Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome

27 October 2018

1 reference

12 December 2020

Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation

1 reference

12 December 2020

Leigh syndrome resulting from de novo mutation at position 8993 of mitochondrial DNA

1 reference

12 December 2020

Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation

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

Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain

1 reference

12 December 2020

Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation

1 reference

12 December 2020

Noninvasive diagnosis of the MELAS syndrome from blood DNA

1 reference

12 December 2020

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

1 reference

12 December 2020

Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation

1 reference

12 December 2020

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

1 reference

12 December 2020

A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome

1 reference

12 December 2020

Different restriction fragment pattern of mtDNA indicative of generalized 8993 point mutations in a boy with lactic acidosis

1 reference

12 December 2020

Heteroplasmic mitochondrial tRNALys mutation and its complementation in MERRF patient-derived mitochondrial transformants

1 reference

12 December 2020

Correlation between the Clinical Symptoms and the Proportion of Mitochondrial DNA Carrying the 8993 Point Mutation in the NARP Syndrome

1 reference

12 December 2020

De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring

1 reference

12 December 2020

Identifiers

DOI

10.1086/302488

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417290%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417290%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

PubMed publication ID

10417290

1 reference