Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. (Q48578775)

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

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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

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based on heuristic

inferred from title

night blindness

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based on heuristic

inferred from title

fundus albipunctatus

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based on heuristic

inferred from title

author name string

Dryja TP

1

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Europe PubMed Central

13 February 2018

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

language of work or name

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publication date

1 November 2000

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Europe PubMed Central

13 February 2018

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

American Journal of Ophthalmology

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Europe PubMed Central

13 February 2018

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

130

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Europe PubMed Central

13 February 2018

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

5

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Europe PubMed Central

13 February 2018

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

547-563

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Europe PubMed Central

13 February 2018

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

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

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Electroretinogram in nyctalopia

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

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

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

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[Analysis of the human electroretinogram]

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Congenital stationary night blindness with negative electroretinogram. A new classification

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Electroretinography in cases of night blindness

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Generation of b-wave currents in the skate retina

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

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

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

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Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness

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

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

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

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Autosomal dominant stationary night-blindness A large family rediscovered

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

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Rhodopsin phosphorylation and dephosphorylation in vivo

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Mechanism of rhodopsin phosphorylation.

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

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

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

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

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The quantity of rhodopsin in human eyes

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

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Dark-adaptation and the regeneration of rhodopsin

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Rhodopsin Regeneration in Man

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

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

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

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

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Prolonged photoresponses in transgenic mouse rods lacking arrestin

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

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

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Fundus albipunctatus associated with cone dystrophy

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

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Cone Electroretinograms in Congenital Nyctalopia with Myopia

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

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

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

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

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

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

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

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

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based on heuristic

inferred from DOI database lookup

Arrestin gene mutations in autosomal recessive retinitis pigmentosa

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based on heuristic

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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

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