A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction (Q43903067)

27 November 2017

title

A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction (English)

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congenital stationary night blindness

27 November 2017

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author name string

Claire S Barnes

series ordinal

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27 November 2017

Kenneth R Alexander

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27 November 2017

Gerald A Fishman

series ordinal

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27 November 2017

publication date

1 March 2002

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27 November 2017

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27 November 2017

volume

109

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27 November 2017

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27 November 2017

page(s)

575-583

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[Analysis of the human electroretinogram]

27 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

7 January 2021

Autosomal dominant congenital stationary night blindness and normal fundus with an electronegative electroretinogram

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

7 January 2021

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

7 January 2021

A Japanese pedigree of autosomal dominant congenital stationary night blindness with variable expressivity

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

7 January 2021

Congenital stationary night blindness presenting as Leber's congenital amaurosis

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

7 January 2021

X-linked congenital stationary night blindness. Review and report of a family with hyperopia

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

7 January 2021

Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

7 January 2021

Congenital stationary night blindness with negative electroretinogram. A new classification

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

7 January 2021

Increased phase lag of the fundamental harmonic component of the 30 Hz flicker ERG in Schubert-Bornschein complete type CSNB

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

7 January 2021

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

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%2FS0161-6420%2801%2900981-2

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%2FS0161-6420%2801%2900981-2

7 January 2021

Electroretinography in cases of night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

7 January 2021

The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

7 January 2021

Autosomal dominant stationary night-blindness A large family rediscovered

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

7 January 2021

Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

7 January 2021

Rod densitometry in night blindness: a review and two puzzling cases. Rod densitometry in night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

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%2FS0161-6420%2801%2900981-2

7 January 2021

Clinical applications of fundus reflection densitometry

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

7 January 2021

Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

7 January 2021

Temporal frequency deficits in the electroretinogram of the cone system in X-linked retinoschisis

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

7 January 2021

A continuously recording retinal densitometer

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

7 January 2021

ON-pathway dysfunction in a patient with acquired unilateral night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

7 January 2021

2-Amino-4-Phosphonobutyric Acid: A New Pharmacological Tool for Retina Research

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

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%2FS0161-6420%2801%2900981-2

7 January 2021

Visual function and gene analysis in a family with Oguchi's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

7 January 2021

Arrestin gene mutations in autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

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%2FS0161-6420%2801%2900981-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900981-2

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%2FS0161-6420%2801%2900981-2

7 January 2021

10.1016/S0161-6420(01)00981-2

Identifiers

DOI

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27 November 2017

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