(Q24533477)

4 July 2017

0 references

Null RPGRIP1 alleles in patients with Leber congenital amaurosis (English)

1 reference

Leber congenital amaurosis

4 July 2017

0 references

0 references

1 reference

T P Dryja

1

1 reference

4 July 2017

S M Adams

2

1 reference

4 July 2017

J L Grimsby

3

1 reference

4 July 2017

T L McGee

4

1 reference

4 July 2017

D H Hong

5

1 reference

4 July 2017

T Li

6

1 reference

4 July 2017

S Andréasson

7

1 reference

4 July 2017

E L Berson

8

1 reference

4 July 2017

language of work or name

English

0 references

publication date

29 March 2001

1 reference

American Journal of Human Genetics

4 July 2017

1 reference

4 July 2017

68

1 reference

4 July 2017

1295-1298

1 reference

4 July 2017

5

1 reference

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

4 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226111

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226111

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226111

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226111

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226111

Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226111

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226111

Mutation analysis of 3 genes in patients with Leber congenital amaurosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226111

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226111

Mutations in RPE65 cause Leber's congenital amaurosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226111

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226111

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=1226111

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=1226111

Identification of a novel protein interacting with RPGR.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226111

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226111

Mutational analysis and clinical correlation in Leber congenital amaurosis

29 November 2018

1 reference

12 December 2020

Natural course of retinitis pigmentosa over a three-year interval

1 reference

12 December 2020

Narrow-band filtering for monitoring low-amplitude cone electroretinograms in retinitis pigmentosa

1 reference

12 December 2020

Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene

1 reference

12 December 2020

Identifiers

DOI

10.1086/320113

1 reference

4 July 2017

1 reference

4 July 2017

1 reference