(Q48578775)

English

Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture.

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

13 February 2018

http://europepmc.org/abstract/MED/11078833

Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. (English)

1 reference

Europe PubMed Central

13 February 2018

http://europepmc.org/abstract/MED/11078833

molecular genetics

1 reference

based on heuristic

inferred from title

night blindness

1 reference

based on heuristic

inferred from title

fundus albipunctatus

1 reference

based on heuristic

inferred from title

author name string

Dryja TP

1

1 reference

Europe PubMed Central

13 February 2018

http://europepmc.org/abstract/MED/11078833

language of work or name

0 references

publication date

1 November 2000

1 reference

Europe PubMed Central

13 February 2018

http://europepmc.org/abstract/MED/11078833

American Journal of Ophthalmology

1 reference

Europe PubMed Central

13 February 2018

http://europepmc.org/abstract/MED/11078833

130

1 reference

Europe PubMed Central

13 February 2018

http://europepmc.org/abstract/MED/11078833

5

1 reference

Europe PubMed Central

13 February 2018

http://europepmc.org/abstract/MED/11078833

547-563

1 reference

Europe PubMed Central

13 February 2018

http://europepmc.org/abstract/MED/11078833

Jean Nougaret, the butcher from Provence, and his family.

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Electroretinogram in nyctalopia

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Electroretinographic Responses Following Vitamin A Therapy in A-Beta-Lipoproteinemia

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Vitamin A or beta-carotene supplementation reduces but does not eliminate maternal night blindness in Nepal

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Night blindness of pregnancy in rural Nepal--nutritional and health risks

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

[Analysis of the human electroretinogram]

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Congenital stationary night blindness with negative electroretinogram. A new classification

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Electroretinography in cases of night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Generation of b-wave currents in the skate retina

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Spectroscopic evidence for altered chromophore--protein interactions in low-temperature photoproducts of the visual pigment responsible for congenital night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Rod and cone function in the Nougaret form of stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Loss of the Effector Function in a Transducin-α Mutant Associated with Nougaret Night Blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Autosomal dominant stationary night-blindness A large family rediscovered

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Rhodopsin phosphorylation and dephosphorylation in vivo

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Mechanism of rhodopsin phosphorylation.

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

The quantity of rhodopsin in human eyes

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

A study of the rods of the human retina by means of the electron microscope.

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Dark-adaptation and the regeneration of rhodopsin

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Rhodopsin Regeneration in Man

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Mizuo phenomenon in X-linked retinoschisis. Pathogenesis of the Mizuo phenomenon

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Arrestin function in inactivation of G protein-coupled receptor rhodopsin in vivo

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Prolonged photoresponses in transgenic mouse rods lacking arrestin

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Long-term follow-up of the physiologic abnormalities and fundus changes in fundus albipunctatus

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Fundus albipunctatus associated with cone dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Cone Electroretinograms in Congenital Nyctalopia with Myopia

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Standardized full-field electroretinography. Normal values and their variation with age

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Oguchi disease: phenotypic characteristics of patients with the frequent 1147delA mutation in the arrestin gene

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Association of xerophthalmia, flecked retina, and pseudotumor cerebri caused by hypovitaminosis A

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

Cone and Rod Function in Vitamin a Deficiency with Chronic Alcoholism and in Retinitis Pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Arrestin gene mutations in autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900737-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0002-9394(00)00737-6

1 reference

Europe PubMed Central

13 February 2018

http://europepmc.org/abstract/MED/11078833

1 reference

Europe PubMed Central

13 February 2018

http://europepmc.org/abstract/MED/11078833

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q48578775&oldid=1525185746"