(Q44353664)

2 December 2017

title

Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis (English)

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2 December 2017

6

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2 December 2017

10

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2 December 2017

Edwin M Stone

9

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Artur V Cideciyan

series ordinal

7

object named as

Artur V Cideciyan

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2 December 2017

8

Val C Sheffield

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2 December 2017

1

Ann H Milam

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2 December 2017

4

Linda Rose

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2 December 2017

2

Mark R Barakat

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2 December 2017

Nisha Gupta

3

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2 December 2017

Tomas S Aleman

series ordinal

5

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2 December 2017

publication date

1 March 2003

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2 December 2017

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2 December 2017

volume

110

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2 December 2017

issue

3

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2 December 2017

page(s)

549-558

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Ueber Retinitis pigmentosa und angeborene Amaurose

2 December 2017

cites work

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Classification of congenital and early onset retinitis pigmentosa.

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7 January 2021

Clinical and genetic heterogeneity in retinitis pigmentosa

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7 January 2021

Implications of genetic analysis in Leber congenital amaurosis

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7 January 2021

Regulation of cGMP synthesis in photoreceptors: role in signal transduction and congenital diseases of the retina

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7 January 2021

Leber congenital amaurosis

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7 January 2021

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

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7 January 2021

Spectrum of retGC1 mutations in Leber's congenital amaurosis

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7 January 2021

Mutation analysis of 3 genes in patients with Leber congenital amaurosis

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7 January 2021

Mutations in RPE65 cause Leber's congenital amaurosis

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7 January 2021

Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis

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7 January 2021

Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

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7 January 2021

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

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7 January 2021

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis

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7 January 2021

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

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7 January 2021

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

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7 January 2021

Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function

1 reference

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7 January 2021

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.

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7 January 2021

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

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7 January 2021

Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p.

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7 January 2021

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

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7 January 2021

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

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7 January 2021

A novel locus for Leber congenital amaurosis on chromosome 14q24.

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7 January 2021

A novel locus for Leber congenital amaurosis maps to chromosome 6q

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7 January 2021

Mutations in the CRB1 gene cause Leber congenital amaurosis

1 reference

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7 January 2021

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene

1 reference

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7 January 2021

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy

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7 January 2021

Leber's congenital amaurosis

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7 January 2021

ELECTRON MICROSCOPY OF A RETINAL ABIOTROPHY

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7 January 2021

Leber's congenital amaurosis. A retrospective study of 33 cases and a histopathological study of one case

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7 January 2021

Congenital amaurosis of Leber

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7 January 2021

Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa

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7 January 2021

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

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https://api.crossref.org/works/10.1016%2FS0161-6420%2802%2901757-8

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2802%2901757-8

7 January 2021

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

1 reference

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7 January 2021

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

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7 January 2021

Prevalence of AIPL1 mutations in inherited retinal degenerative disease

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7 January 2021

Fast and sensitive silver staining of DNA in polyacrylamide gels

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7 January 2021

Recoverin immunoreactivity in mammalian cone bipolar cells

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7 January 2021

Calbindin D-28K immunoreactivity of human cone cells varies with retinal position

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7 January 2021

A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

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7 January 2021

Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy.

1 reference

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7 January 2021

Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.

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7 January 2021

Evidence from normal and degenerating photoreceptors that two outer segment integral membrane proteins have separate transport pathways

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7 January 2021

Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane

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7 January 2021

A qualitative and quantitative analysis of the human fovea during development

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7 January 2021

Distribution of S- and M-cones in normal and experimentally detached cat retina

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7 January 2021

Rod photoreceptor neurite sprouting in retinitis pigmentosa

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7 January 2021

Rod-cone interactions: developmental and clinical significance

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7 January 2021

Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2802%2901757-8

7 January 2021

A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2802%2901757-8

7 January 2021

Disruption of a retinal guanylyl cyclase gene leads to cone-specific dystrophy and paradoxical rod behavior.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2802%2901757-8

7 January 2021

Expression of GCAP1 and GCAP2 in the retinal degeneration (rd) mutant chicken retina

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2802%2901757-8

7 January 2021

Hereditary retinal degeneration in the Rhode Island Red chicken: ultrastructural analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2802%2901757-8

7 January 2021

10.1016/S0161-6420(02)01757-8

Identifiers

DOI

1 reference

2 December 2017

1 reference