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

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19 January 2020

Todd E. Scheetz

4

1 reference

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19 January 2020

Robert F. Mullins

12

1 reference

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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

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19 January 2020

2

Artur V Cideciyan

1 reference

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19 January 2020

5

Alexander Sumaroka

1 reference

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19 January 2020

7

Sharon B Schwartz

1 reference

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19 January 2020

10

Byron L Lam

1 reference

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19 January 2020

author name string

Tomas S Aleman

3

1 reference

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19 January 2020

Mary A Ehlinger

6

1 reference

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19 January 2020

Gerald A Fishman

8

1 reference

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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

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19 January 2020

language of work or name

English

0 references

publication date

1 January 2011

1 reference

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19 January 2020

number of pages

7

1 reference

based on heuristic

inferred from page(s)

published in

JAMA Ophthalmology

1 reference

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19 January 2020

volume

129

1 reference

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19 January 2020

issue

1

1 reference

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19 January 2020

page(s)

81-87

1 reference

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Imaging outer segment renewal in living human cone photoreceptors.

19 January 2020

cites work

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23 August 2017

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23 August 2017

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

23 August 2017

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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

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Genetic and physical interaction between the NPHP5 and NPHP6 gene products

23 August 2017

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23 August 2017

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

23 August 2017

1 reference

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

23 August 2017

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

23 August 2017

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Genetic complexity in Joubert syndrome and related disorders

23 August 2017

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

23 August 2017

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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

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Nephronophthisis-associated ciliopathies

23 August 2017

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Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations

23 August 2017

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

23 August 2017

1 reference

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

23 August 2017

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

23 August 2017

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

23 August 2017

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23 August 2017

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23 August 2017

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

23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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14 September 2017

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25 June 2018

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1 September 2018

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1 September 2018

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1 September 2018

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1 September 2018

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

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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

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PubMed

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inferred from PubMed ID database lookup

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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

1 reference