Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? (Q33932634)

30 July 2017

Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? (English)

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Leber hereditary optic neuropathy

30 July 2017

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Chinnery PF

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30 July 2017

Andrews RM

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PubMed ID

11169561

30 July 2017

Turnbull DM

series ordinal

3

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PubMed ID

11169561

30 July 2017

Howell NN

series ordinal

4

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30 July 2017

1 January 2001

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American Journal of Medical Genetics Part A

30 July 2017

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30 July 2017

98

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30 July 2017

235-243

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30 July 2017

3

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Bottlenecks and beyond: mitochondrial DNA segregation in health and disease

30 July 2017

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X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Mitochondrial gene segregation in mammals: is the bottleneck always narrow?

21 January 2018

1 reference

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Low-penetrance branches in matrilineal pedigrees with Leber hereditary optic neuropathy

21 January 2018

1 reference

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An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy

21 January 2018

1 reference

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Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

21 January 2018

1 reference

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21 January 2018

Reply to Hofmann et al.

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https://api.crossref.org/works/10.1002%2F1096-8628%2820010122%2998%3A3%3C235%3A%3AAID-AJMG1086%3E3.0.CO%3B2-O

Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy.

21 January 2018

1 reference

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Leber's hereditary optic neuropathy. New genetic considerations

21 January 2018

1 reference

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Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy

21 January 2018

1 reference

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Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010122%2998%3A3%3C235%3A%3AAID-AJMG1086%3E3.0.CO%3B2-O

Mitochondrial genetics '98 is the bottleneck cracked?

21 January 2018

1 reference

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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010122%2998%3A3%3C235%3A%3AAID-AJMG1086%3E3.0.CO%3B2-O

Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010122%2998%3A3%3C235%3A%3AAID-AJMG1086%3E3.0.CO%3B2-O

Human mitochondrial diseases: answering questions and questioning answers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010122%2998%3A3%3C235%3A%3AAID-AJMG1086%3E3.0.CO%3B2-O

Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010122%2998%3A3%3C235%3A%3AAID-AJMG1086%3E3.0.CO%3B2-O

Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010122%2998%3A3%3C235%3A%3AAID-AJMG1086%3E3.0.CO%3B2-O

Variable genotype of Leber's hereditary optic neuropathy patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010122%2998%3A3%3C235%3A%3AAID-AJMG1086%3E3.0.CO%3B2-O

Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010122%2998%3A3%3C235%3A%3AAID-AJMG1086%3E3.0.CO%3B2-O

Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010122%2998%3A3%3C235%3A%3AAID-AJMG1086%3E3.0.CO%3B2-O

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010122%2998%3A3%3C235%3A%3AAID-AJMG1086%3E3.0.CO%3B2-O

Heteroplasmy in Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010122%2998%3A3%3C235%3A%3AAID-AJMG1086%3E3.0.CO%3B2-O

Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010122%2998%3A3%3C235%3A%3AAID-AJMG1086%3E3.0.CO%3B2-O

10.1002/1096-8628(20010122)98:3<235::AID-AJMG1086>3.0.CO;2-O

21 January 2018

Identifiers

DOI

1 reference

30 July 2017

1 reference

PubMed ID

11169561