(Q35196453)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1998335%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1998335%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

1 reference

J Vilkki

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1998335%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

J Ott

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1998335%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

M L Savontaus

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1998335%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

P Aula

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1998335%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

E K Nikoskelainen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1998335%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

language of work or name

English

0 references

publication date

1 March 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1998335%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

22 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1998335%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

volume

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1998335%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

page(s)

486-491

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1998335%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1998335%20AND%20SRC:MED&resulttype=core&format=json

LEBER'S DISEASE IN THE NETHERLANDS.

22 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682980

Strategies for multilocus linkage analysis in humans

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682980

Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682980

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682980

Report of the committee on linkage and gene order

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682980

Norrie disease gene is distinct from the monoamine oxidase genes.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682980

Human monoamine oxidase A and B genes map to Xp 11.23 and are deleted in a patient with Norrie disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682980

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682980

Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682980

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682980

Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682980

Linkage heterogeneity between X-linked retinitis pigmentosa and a map of 10 RFLP loci

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682980

Measuring the inflation of the lod score due to its maximization over model parameter values in human linkage analysis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682980

The inheritance of Leber's disease. A genealogical follow-up study

13 July 2018

1 reference

12 December 2020

The clinical findings in Leber's hereditary optic neuroretinopathy. Leber's disease

1 reference

12 December 2020

Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees

1 reference

12 December 2020

Human mitochondrial DNA types in Finland

1 reference

12 December 2020

Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp

1 reference

12 December 2020

A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy

1 reference

12 December 2020

Norrie disease: Linkage analysis using a 4.2-kb RFLP detected by a human ornithine aminotransferase cDNA probe

1 reference

12 December 2020

Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1998335%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

1 reference