Molecular genetics of human retinal dystrophies (Q47609854)

4 February 2018

title

Molecular genetics of human retinal dystrophies (English)

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4 February 2018

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Inglehearn CF

1

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4 February 2018

publication date

1 January 1998

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4 February 2018

language of work or name

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4 February 2018

volume

12 ( Pt 3b)

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4 February 2018

page(s)

571-579

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4 February 2018

publication type of scholarly work

review article

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Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

cites work

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Positional cloning of the gene associated with X-linked juvenile retinoschisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Isolation of a candidate gene for Norrie disease by positional cloning

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Cloning of a gene that is rearranged in patients with choroideraemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Molecular genetics of human blue cone monochromacy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Mutations in RPE65 cause Leber's congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Localization of Usher syndrome type II to chromosome 1q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Identification of PAHX, a Refsum disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Mapping the locus of atrophia areata, a helicoid peripapillary chorioretinal degeneration with autosomal dominant inheritance, to chromosome 11p15

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Localization of two genes for usher syndrome type I to chromosome 11

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Mutation analysis of the ROM1 gene in retinitis pigmentosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Defective myosin VIIA gene responsible for Usher syndrome type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

A gene for Usher syndrome type I (USH1A) maps to chromosome 14q

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

A clinical, psychophysical, and electroretinographic survey of patients with autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Exclusion of Atypical Vitelliform Macular Dystrophy from 8q24.3 and from Other Known Macular Degenerative Loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Apoptosis: final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

bcl-2 overexpression reduces apoptotic photoreceptor cell death in three different retinal degenerations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

The absence of c-fos prevents light-induced apoptotic cell death of photoreceptors in retinal degeneration in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Night blindness in Sorsby's fundus dystrophy reversed by vitamin A

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

North Carolina macular dystrophy is assigned to chromosome 6

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

Prevalence of retinitis pigmentosa in Maine

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

7 January 2021

Linkage analysis in X-linked congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

7 January 2021

A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

7 January 2021

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

7 January 2021

Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

7 January 2021

Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

7 January 2021

Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

7 January 2021

A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

7 January 2021

Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

7 January 2021

Two forms of autosomal dominant primary retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FEYE.1998.147

7 January 2021

Identifiers

DOI

10.1038/EYE.1998.147

1 reference

4 February 2018

1 reference

4 February 2018