(Q28214255)

8

object named as

Albert de la Chapelle

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Alfons Meindl

11

object named as

Alfons Meindl

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Bernd Wissinger

10

object named as

Bernd Wissinger

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author name string

Krisztina Wutz

1

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Christian Sauer

2

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Eberhart Zrenner

3

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Birgit Lorenz

4

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Tiina Alitalo

5

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Martina Broghammer

6

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Martin Hergersberg

7

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Bernhard H F Weber

9

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Carsten M Pusch

European Journal of Human Genetics

12

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language of work or name

English

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publication date

August 2002

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published in

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volume

10

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page(s)

449-56

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issue

8

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cites work

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Congenital stationary night blindness with negative electroretinogram. A new classification

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[Incomplete congenital stationary night blindness (CSNB). An important differential diagnosis of congenital nystagmus].

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

21 January 2018

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

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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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A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants

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A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

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Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.

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Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness

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Retinal degeneration is rescued in transgenic rd mice by expression of the cGMP phosphodiesterase beta subunit

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PCR analysis of DNA from 70-year-old sections of rodless retina demonstrates identity with the mouse rd defect

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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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Instability and decay of the primary structure of DNA

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

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Submillisecond kinetics of glutamate release from a sensory synapse.

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Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness

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Clinical and electroretinographic comparison between Åland Island eye disease and a newly found related disease with X-chromosomal inheritance

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A New Congenital Cataract in the Mouse

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Localization and quantitation of opsin and transducin mRNAs in bovine retina by in situ hybridization histochemistry

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Molecular cloning of the murine JAK1 protein tyrosine kinase and its expression in the mouse central nervous system.

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Constitutive "light" adaptation in rods from G90D rhodopsin: a mechanism for human congenital nightblindness without rod cell loss.

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Dependence of photoreceptor glutamate release on a dihydropyridine-sensitive calcium channel

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