(Q35889762)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977377%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977377%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference

Hong HK

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977377%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

Ferrell RE

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977377%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

Gorin MB

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977377%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

language of work or name

English

0 references

publication date

1 December 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977377%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

29 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977377%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

volume

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977377%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

issue

6

1 reference

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29 October 2019

page(s)

1173-1181

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977377%20AND%20SRC:MED&resulttype=core&format=json

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

29 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

A cytological map of the human X chromosome--evidence for non-random recombination

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

Linkage between the X-linked retinitis pigmentosa locus and the L1.28 locus.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

Report of the Committee on the Genetic Constitution of the X and Y Chromosomes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

Two different genes for X-linked retinitis pigmentosa

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

A simple salting out procedure for extracting DNA from human nucleated cells

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

X-linked progressive cone dystrophy. Clinical characteristics of affected males and female carriers

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

A highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: linkage mapping of the synapsin I/A-raf-1 genes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

PCR detection of existing and new polymorphism at the TIMP locus

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

On the molecular genetics of retinitis pigmentosa

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

Detection of specific sequences among DNA fragments separated by gel electrophoresis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

Dinucleotide repeat polymorphism at the DXS1146 locus.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918428

Analysis of linkage relationships of X-linked retinitis pigmentosa with the following Xp loci: L1.28, OTC, 754, XJ-1.1, pERT87, and C7

22 October 2018

1 reference

12 December 2020

Localization of human monoamine oxidase-A gene to Xp11.23-11.4 by in situ hybridization: Implications for norrie disease

1 reference

12 December 2020

Color matching and foveal densitometry in patients and carriers of an X-linked progressive cone dystrophy

1 reference

12 December 2020

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

1 reference

12 December 2020

Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers

1 reference

12 December 2020

X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome

1 reference

12 December 2020

X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977377%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference