A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. (Q34144117)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10958763%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10958763%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10958763%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

author name string

A Rivera

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10958763%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

K White

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10958763%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

H Stöhr

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10958763%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

K Steiner

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10958763%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

N Hemmrich

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10958763%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

T Grimm

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10958763%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

B Jurklies

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10958763%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

B Lorenz

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10958763%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

H P Scholl

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10958763%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

E Apfelstedt-Sylla

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10958763%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

language of work or name

English

0 references

publication date

24 August 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10958763%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

9 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10958763%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

67

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10958763%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10958763%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

page(s)

800-813

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10958763%20AND%20SRC:MED&resulttype=core&format=json

Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium

9 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=1287885

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

A new locus for autosomal dominant stargardt-like disease maps to chromosome 4.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

Mutation detection by denaturing gradient gel electrophoresis (DGGE).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

Autosomal-dominant fundus flavimaculatus. Clinicopathologic correlation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

Immunocytochemical localization of a large intrinsic membrane protein to the incisures and margins of frog rod outer segment disks.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287885

An analysis of ABCR mutations in British patients with recessive retinal dystrophies

28 October 2018

1 reference

12 December 2020

Intrafamilial variation of phenotype in Stargardt macular dystrophy-Fundus flavimaculatus

1 reference

12 December 2020

New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease

1 reference

12 December 2020

ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy

1 reference

12 December 2020

Dominantly inherited macular dystrophy with flecks (Stargardt)

1 reference

12 December 2020

Age-related macular degeneration

1 reference

12 December 2020

Prevalence of age-related maculopathy. The Beaver Dam Eye Study

1 reference

12 December 2020

Long-term follow-up of dominant macular dystrophy with flecks (Stargardt)

1 reference

12 December 2020

Proof of "disease causing" mutation

1 reference

12 December 2020

ABCR gene analysis in familial exudative age-related macular degeneration

1 reference

12 December 2020

Identifiers

DOI

10.1086/303090

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10958763%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10958763%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference