A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency. (Q34386504)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683589%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

title

A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency (English)

1 reference

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13 November 2019

author

Valérie Cormier-Daire

2

1 reference

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13 November 2019

Agnès Rötig

8

1 reference

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13 November 2019

author name string

von Kleist-Retzow JC

1

1 reference

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13 November 2019

de Lonlay P

3

1 reference

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13 November 2019

Parfait B

4

1 reference

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13 November 2019

Chretien D

5

1 reference

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13 November 2019

Rustin P

6

1 reference

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13 November 2019

Feingold J

7

1 reference

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13 November 2019

Munnich A

9

1 reference

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13 November 2019

language of work or name

English

0 references

publication date

1 August 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683589%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

13 November 2019

published in

1 reference

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13 November 2019

volume

63

1 reference

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13 November 2019

issue

2

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13 November 2019

page(s)

428-435

1 reference

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Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I.

13 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377299

NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377299

A novel X-linked gene, G4.5. is responsible for Barth 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=1377299

Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377299

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377299

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377299

Genetic study of thanatophoric dwarfism

6 July 2018

1 reference

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PET genes of Saccharomyces cerevisiae

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377299

Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377299

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=1377299

Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377299

Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377299

No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9683589

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical syndromes associated with ragged red fibers

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9683589

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9683589

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/301957

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683589%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

1 reference

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13 November 2019

1 reference