Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy (Q24517959)

28 October 2023

A T Moore

series ordinal

author given names

A T

author last names

Moore

1 reference

28 October 2023

S S Bhattacharya

series ordinal

author given names

S S

author last names

Bhattacharya

1 reference

Journal of Medical Genetics

28 October 2023

language of work or name

English

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publication date

October 1998

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published in

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volume

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issue

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page(s)

793-800

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cites work

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HEREDITARY OPTIC ATROPHY WITH DOMINANT TRANSMISSION AND EARLY ONSET

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Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity

27 September 2017

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A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome

27 September 2017

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Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q

27 September 2017

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No evidence of genetic heterogeneity in dominant optic atrophy

27 September 2017

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Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation

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Linkage analysis in dominant optic atrophy

27 September 2017

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Dominant juvenile optic atrophy. A study in two families and review of hereditary disease in childhood

27 September 2017

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Magnetic resonance imaging in Leber's optic neuropathy

27 September 2017

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A Clinicopathologic Study of Autosomal Dominant Optic Atrophy

27 September 2017

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Dominant optic atrophy. The clinical profile

27 September 2017

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27 September 2017

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Autosomal dominant polycystic kidney disease: clinical and genetic aspects

27 September 2017

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Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve

30 May 2018

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Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?

30 May 2018

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Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.

30 May 2018

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Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer

30 May 2018

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Types of acquired colour deficiencies caused by autosomal-dominant infantile optic atrophy.

30 May 2018

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Diagnostic criteria in cominantly inherited juvenile optic atrophy. A report of three new families

30 May 2018

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Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO).

30 May 2018

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Probable autosomal dominant optic atrophy with hearing loss

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051452

Significance of abnormal pattern electroretinography in anterior visual pathway dysfunction

30 May 2018

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Magnetic resonance imaging of the optic nerve in optic neuritis

30 May 2018

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Tobacco-alcohol amblyopia: magnetic resonance imaging findings

30 May 2018

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Difficulty differentiating Leber's from dominant optic neuropathy in a patient with remote visual loss

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051452

Color vision in dominant optic atrophy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051452

Psychophysical and visual evoked potential findings in hereditary optic atrophy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051452

Hereditary optic atrophy with dominant transmission; three Danish families

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051452

Hereditary infantile optic atrophy with dominant transmission; preliminary report.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051452

Differential display detects altered gene expression between cataractous and normal human lenses.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051452

Fine scale mapping places DLG1, the gene encoding hDlg, telomeric to the OPA1 candidate region

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051452

Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051452

Chromosomal organization of mammalian POU domain factors.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051452

Single muscle fibre analyses in 2 brothers with succinate dehydrogenase deficiency.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051452

Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051452

A family with optic atrophy and congenital hearing loss

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051452

Autosomal dominant optic atrophy. A spectrum of disability.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051452

Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051452

Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig

29 November 2018

1 reference

12 December 2020

The assessment of acquired dyschromatopsia and clinical investigation of the acquired tritan defect in dominantly inherited juvenile atrophy

1 reference

12 December 2020

Optic atrophy, neural deafness, and distal neurogenic amyotrophy; report of a family with two affected siblings

1 reference

12 December 2020

Recessively inherited, simple optic atrophy--does it exist?

1 reference

12 December 2020

Dominant hereditary optic atrophy with bitemporal field defects

1 reference

12 December 2020

Mapping the Bst mutation on mouse Chromosome 16: a model for human optic atrophy

1 reference

12 December 2020

Different types of hereditary optic atrophy

1 reference

12 December 2020

The investigation of respiratory chain disorders in heart using endomyocardial biopsies

1 reference

12 December 2020

Dominant optic atrophy, Kjer type. Linkage analysis and clinical features in a large British pedigree

1 reference

12 December 2020

Four families with the dominant infantile form of optic nerve atrophy

1 reference

12 December 2020

Dominant congenital deafness and progressive optic nerve atrophy. Occurrence in four generations of a family

1 reference

12 December 2020

Diagnosis of dominant infantile optic atrophy in early childhood

1 reference

12 December 2020

Refinement of the locus for autosomal dominant juvenile optic atrophy to a 2 cM region on 3q28

1 reference

12 December 2020

Kearns-Sayre syndrome and complex II deficiency

1 reference

12 December 2020

Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy

1 reference

12 December 2020

Hereditary optic atrophies in childhood

1 reference

12 December 2020

Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy

1 reference

12 December 2020

Mammalian hairy and Enhancer of split homolog 1 regulates differentiation of retinal neurons and is essential for eye morphogenesis

1 reference

12 December 2020

Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects

1 reference

12 December 2020

Visual prognosis in autosomal dominant optic atrophy (Kjer type)

1 reference

12 December 2020

Electrophysiological discrimination between retinal and optic nerve disorders

1 reference

12 December 2020

Leber hereditary optic neuropathy. Electron microscopy and molecular genetic analysis of a case

1 reference

12 December 2020

A family with sex linked optic atrophy : Ophthalmological and neurological aspects

1 reference

https://api.crossref.org/works/10.1136%2FJMG.35.10.793

7 January 2021

Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method

1 reference

https://api.crossref.org/works/10.1136%2FJMG.35.10.793

7 January 2021

Electrophysiology and colour perimetry in dominant infantile optic atrophy

1 reference

https://api.crossref.org/works/10.1136%2FJMG.35.10.793

7 January 2021

A family with apparently sex-linked optic atrophy

1 reference

https://api.crossref.org/works/10.1136%2FJMG.35.10.793

7 January 2021

1 reference

https://api.crossref.org/works/10.1136%2FJMG.35.10.793

7 January 2021

release_6oqeokdqwvbwdp72tlgnv2nv2a

Identifiers

DOI

10.1136/JMG.35.10.793

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Fatcat ID

0 references

PMC publication ID

1051452

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