(Q50304932)

2 March 2018

title

5q14.3 deletion manifesting as mitochondrial disease and autism: case report (English)

1 reference

2 March 2018

main subject

autism

0 references

mitochondrial disease

1 reference

Herbert Ezugha

1

1 reference

2 March 2018

Michael Goldenthal

2

1 reference

2 March 2018

Ignacio Valencia

3

1 reference

2 March 2018

Carol E Anderson

4

1 reference

2 March 2018

Agustin Legido

5

1 reference

2 March 2018

Harold Marks

6

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2 March 2018

publication date

22 February 2010

1 reference

2 March 2018

Journal of Child Neurology

published in

1 reference

2 March 2018

volume

25

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2 March 2018

issue

10

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2 March 2018

page(s)

1232-1235

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2 March 2018

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0883073809361165

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809361165

A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809361165

Mitochondrial disease in autism spectrum disorder patients: a cohort analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809361165

Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809361165

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809361165

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809361165

Assignment of the human genes coding for cytochrome c oxidase subunits Va (COX5A), VIc (COX6C) and VIIc (COX7C) to chromosome bands 15q25, 8q22-->q23 and 5q14 and of three pseudogenes (COX5AP1, COX6CP1, COX7CP1) to 14q22, 16p12 and 13q14-->q21 by FI

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809361165

Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809361165

Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809361165

Genome-wide aberrations in pancreatic adenocarcinoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809361165

Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809361165

Mitochondrial dysfunction in autism spectrum disorders: a population-based study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809361165

Developmental regression and mitochondrial dysfunction in a child with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809361165

21 January 2018

Identifiers

DOI

10.1177/0883073809361165

1 reference

2 March 2018

release_2dsscvcoirforjurnpyzpdvihe

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2dsscvcoirforjurnpyzpdvihe

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

2 March 2018