(Q37635389)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

Leber congenital amaurosis

19 January 2020

main subject

congenital disorder

0 references

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Todd E. Scheetz

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Robert F. Mullins

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Val C. Sheffield

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Samuel G. Jacobson

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

2

Artur V Cideciyan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

5

Alexander Sumaroka

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

7

Sharon B Schwartz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

10

Byron L Lam

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

author name string

Tomas S Aleman

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Mary A Ehlinger

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Gerald A Fishman

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Elias I Traboulsi

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Anne B Fulton

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

language of work or name

English

0 references

publication date

1 January 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

number of pages

7

1 reference

based on heuristic

inferred from page(s)

published in

JAMA Ophthalmology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

volume

129

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

page(s)

81-87

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

Imaging outer segment renewal in living human cone photoreceptors.

19 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Centrioles, centrosomes, and cilia in health and disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Ciliary biology: understanding the cellular and genetic basis of human ciliopathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Outcomes of kidney transplantation in children with nephronophthisis: an analysis of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS) Registry

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

23 August 2017

The meaning of nonsense

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Effect of gene therapy on visual function in Leber's congenital amaurosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Safety and efficacy of gene transfer for Leber's congenital amaurosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Genetic complexity in Joubert syndrome and related disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Nephronophthisis-associated ciliopathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Near-infrared autofluorescence imaging of the fundus: visualization of ocular melanin

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Hereditary renal dysplasia and blindness

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Human photoreceptor topography

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3952880

Relation of optical coherence tomography to microanatomy in normal and rd chickens

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21220633

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Case of Stargardt disease caused by uniparental isodisomy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21220633

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/ARCHOPHTHALMOL.2010.330

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21220633%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

PubMed publication ID

21220633

1 reference