Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder (Q24538459)

10

0 references

Patrick Yu-Wai-Man

3

0 references

Patrick F. Chinnery

15

Patrick F Chinnery

0 references

Veronika Karcagi

11

Veronika Karcagi

0 references

Gavin Hudson

1

Gavin Hudson

0 references

Liesbeth Spruijt

12

Liesbeth Spruijt

0 references

Kirsi Huoponen

5

Kirsi Huoponen

0 references

Marja-Liisa Savontaus

6

Marja-Liisa Savontaus

0 references

Eeva Nikoskelainen

7

Eeva Nikoskelainen

0 references

Philip Griffiths

4

Philip Griffiths

0 references

Bert Smeets

14

Hubert J M Smeets

0 references

Sharon M Keers

2

Sharon Keers

0 references

author name string

Franco Carrara

9

0 references

I F M de Coo

American Journal of Human Genetics

13

0 references

language of work or name

English

0 references

publication date

December 2005

0 references

published in

0 references

volume

77

0 references

issue

6

0 references

page(s)

1086-91

0 references

cites work

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Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees

24 March 2017

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The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy

24 March 2017

1 reference

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Rett syndrome: the complex nature of a monogenic disease

24 March 2017

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

27 September 2017

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The transmission/disequilibrium test and parental-genotype reconstruction for X-chromosomal markers

27 September 2017

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Population choice in mapping genes for complex diseases

27 September 2017

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Genomic imprinting: implications for human disease

27 September 2017

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Parental origin-dependent, male offspring-specific transmission-ratio distortion at loci on the human X chromosome.

27 September 2017

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Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.

27 September 2017

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Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.

27 September 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

27 September 2017

1 reference

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Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis

27 September 2017

1 reference

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

27 September 2017

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

30 May 2018

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Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON)

30 May 2018

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The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation

30 May 2018

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Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees

30 May 2018

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X-inactivation pattern in multiple tissues from two Leber's hereditary optic neuropathy (LHON) patients.

29 November 2018

1 reference

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Leber’s Hereditary Optic Neuroretinopathy and the X-Chromosomal Susceptibility Factor: No Linkage to DXS7

29 November 2018

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A case-control study of tobacco and alcohol consumption in leber hereditary optic neuropathy

29 November 2018

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12 December 2020

From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers

1 reference

12 December 2020

Blindness in offspring of women blinded by Leber's hereditary optic neuropathy

1 reference

12 December 2020

Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation

1 reference

12 December 2020

The two locus control of Leber hereditary optic neuropathy and a high penetrance in Japanese pedigrees

1 reference

12 December 2020

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

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12 December 2020

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant

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12 December 2020

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Identifiers

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30 July 2022

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Fatcat

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30 July 2022

OpenCitations bibliographic resource ID

3248825

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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30 July 2022

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PubMed publication ID

1 reference

30 July 2022