(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

The epidemiology of Leber hereditary optic neuropathy in the North East of England

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285165

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285165

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285165

Rett syndrome: the complex nature of a monogenic disease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285165

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285165

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285165

Population choice in mapping genes for complex diseases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285165

Genomic imprinting: implications for human disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285165

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285165

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285165

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285165

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285165

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285165

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285165

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285165

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285165

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285165

Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285165

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285165

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285165

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

29 November 2018

1 reference

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

1 reference

12 December 2020

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

1 reference

12 December 2020

https://api.fatcat.wiki/v0/release/iggjcz7xw5hx7beaqa4srhu2ia

Identifiers

1 reference

30 July 2022

release_iggjcz7xw5hx7beaqa4srhu2ia

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/iggjcz7xw5hx7beaqa4srhu2ia

30 July 2022

OpenCitations bibliographic resource ID

3248825

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

https://api.fatcat.wiki/v0/release/iggjcz7xw5hx7beaqa4srhu2ia

30 July 2022

https://api.fatcat.wiki/v0/release/iggjcz7xw5hx7beaqa4srhu2ia

PubMed publication ID

1 reference

30 July 2022