(Q73758990)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10800705%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

In vivo assessment of photoreceptor function in human diseases caused by photoreceptor-specific gene mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10800705%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

author name string

A V Cideciyan

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10800705%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

publication date

1 January 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10800705%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

published in

Methods in Enzymology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10800705%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

volume

316

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10800705%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

page(s)

611-626

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10800705%20AND%20SRC:MED&resulttype=core&format=json

Molecular genetics of retinitis pigmentosa

6 November 2019

cites work

1 reference

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7 January 2021

Identification of genes causing photoreceptor degenerations leading to blindness

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7 January 2021

An alternative phototransduction model for human rod and cone ERG a-waves: normal parameters and variation with age.

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7 January 2021

Preferential Rod and Cone Photoreceptor Abnormalities in Heterozygotes with Point Mutations in theRDSGene

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7 January 2021

The components of the retinal action potential in mammals and their relation to the discharge in the optic nerve

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7 January 2021

Enhanced S cone syndrome: evidence for an abnormally large number of S cones.

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7 January 2021

Sites of disease action in a retinal dystrophy with supernormal and delayed rod electroretinogramb-waves

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7 January 2021

A quantitative measure of the electrical activity of human rod photoreceptors using electroretinography

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7 January 2021

Assessing abnormal rod photoreceptor activity with the a-wave of the electroretinogram: applications and methods

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7 January 2021

Current source density analysis of retinal field potentials. II. Pharmacological analysis of the b-wave and M-wave.

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7 January 2021

Photoreceptor and bipolar cell contributions to the cat electroretinogram: a kinetic model for the early part of the flash response.

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7 January 2021

Beta wave of the scotopic (rod) electroretinogram as a measure of the activity of human on-bipolar cells

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7 January 2021

A quantitative account of the activation steps involved in phototransduction in amphibian photoreceptors

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7 January 2021

Amplification and kinetics of the activation steps in phototransduction

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7 January 2021

Light adaptation of human rod receptors: the leading edge of the human a-wave and models of rod receptor activity.

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7 January 2021

Empiric limits of rod photocurrent component underlying a-wave response in the electroretinogram

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7 January 2021

Human cone receptor activity: the leading edge of the a-wave and models of receptor activity.

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7 January 2021

Phototransduction in human cones measured using the alpha-wave of the ERG.

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7 January 2021

The a-wave of the human electroretinogram recorded with a minimally invasive technique.

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7 January 2021

Visual transduction in cones of the monkey Macaca fascicularis.

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7 January 2021

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

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7 January 2021

Fusion between retinal rod outer segment membranes and model membranes: a role for photoreceptor peripherin/rds

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7 January 2021

Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)

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7 January 2021

Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture

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7 January 2021

The role of the peripherin/RDS gene in retinal dystrophies

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7 January 2021

Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotype-specific element into protein-coding exon II.

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7 January 2021

The effect of peripherin/rds haploinsufficiency on rod and cone photoreceptors.

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7 January 2021

Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene

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7 January 2021

Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family

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7 January 2021

A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy

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7 January 2021

Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene

1 reference

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7 January 2021

Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.

1 reference

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7 January 2021

A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration.

1 reference

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7 January 2021

10.1016/S0076-6879(00)16753-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10800705%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference