(Q33596132)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7907666%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7907666%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference

6

1 reference

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28 October 2019

author name string

I A Glass

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7907666%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

P Good

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7907666%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

M P Coleman

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7907666%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

P Fullwood

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7907666%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

M G Giles

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7907666%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

A H Nemeth

7

1 reference

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28 October 2019

K E Davies

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7907666%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

H A Willshaw

9

1 reference

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28 October 2019

A Fielder

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7907666%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

language of work or name

English

0 references

publication date

1 December 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7907666%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

28 October 2019

published in

1 reference

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28 October 2019

volume

30

1 reference

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28 October 2019

issue

12

1 reference

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28 October 2019

page(s)

1044-1050

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7907666%20AND%20SRC:MED&resulttype=core&format=json

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

28 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=1016646

Congenital stationary night blindness with negative electroretinogram. A new classification

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016646

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016646

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016646

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016646

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016646

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016646

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016646

Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016646

Aland eye disease: linkage data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016646

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016646

Aland eye disease (Forsius-Eriksson-Miyake syndrome) with probability established in a Danish family

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016646

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

30 October 2018

1 reference

12 December 2020

Isolation and characterization of three microsatellite markers in the proximal long arm of the human X chromosome

1 reference

12 December 2020

Nystagmographical studies in Aland eye disease

1 reference

12 December 2020

A decisive electrophysiological test for human albinism

1 reference

12 December 2020

Aland eye disease: no albino misrouting

1 reference

12 December 2020

A computer program to make linkage analysis with LIPED and LINKAGE easier to perform and less prone to input errors

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

Gene locus for X-linked CSNB

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.30.12.1044

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7907666%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7907666%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference