(Q24538863)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529339%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Evidence for genetic heterogeneity in X-linked congenital stationary night blindness (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529339%20AND%20SRC:MED&resulttype=core&format=json

congenital stationary night blindness

10 November 2019

main subject

0 references

heterogeneity

1 reference

X-linked congenital stationary night blindness

inferred from title

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529339%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

Boycott KM

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529339%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Pearce WG

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529339%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Musarella MA

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529339%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Weleber RG

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529339%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Maybaum TA

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529339%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Miyake Y

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529339%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Young RS

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529339%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Bech-Hansen NT

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529339%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

language of work or name

English

0 references

publication date

1 April 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529339%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

10 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529339%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529339%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529339%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

865-875

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529339%20AND%20SRC:MED&resulttype=core&format=json

Disease gene mapping in isolated human populations: the example of Finland

10 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

The 1993-94 Généthon human genetic linkage map

24 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

Identification of the cystic fibrosis gene: genetic analysis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

Integration of 101 DNA markers across human Xp11 using a panel of somatic cell hybrids

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

A 2-megabase physical contig incorporating 43 DNA markers on the human X chromosome at p11.23-p11.22 from ZNF21 to DXS255.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of 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=1377021

Congenital stationary nightblindness

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

X-linked congenital stationary night blindness. Review and report of a family with hyperopia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

Aland eye disease: linkage data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome 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=1377021

Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

Congenital stationary night blindness with negative electroretinogram. A new classification

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

Variable expressivity in X-linked congenital stationary night blindness

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

Scotopic threshold response in complete and incomplete types of congenital stationary night blindness

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

Integrated human genome-wide maps constructed using the CEPH reference panel.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377021

Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness

29 November 2018

1 reference

12 December 2020

Sixth International Workshop on Human X Chromosome Mapping 1995. Banff, Alberta, Canada, June 16-18, 1995. Report and abstracts

1 reference

12 December 2020

Rhodopsin and the electrical activity of the retina in congenital night blindness

1 reference

12 December 2020

On- and off-responses in photopic electroretinogram in complete and incomplete types of congenital stationary night blindness

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

X-linked congenital stationary night blindness

1 reference

12 December 2020

A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome

1 reference

12 December 2020

Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7

1 reference

12 December 2020

Affected females in X-linked congenital stationary night blindness

1 reference

12 December 2020

Linkage analysis in X-linked congenital stationary night blindness

1 reference

12 December 2020

Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F301781

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/301781

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529339%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529339%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

PubMed publication ID

9529339

1 reference