(Q40937286)

25 September 2017

1 reference

title

Genetic and molecular studies of macular dystrophies: recent developments (English)

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25 September 2017

Zhang K

1

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25 September 2017

Nguyen TH

series ordinal

2

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25 September 2017

Crandall A

series ordinal

3

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25 September 2017

Donoso LA

series ordinal

4

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25 September 2017

publication date

1 July 1995

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25 September 2017

published in

Survey of Ophthalmology

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25 September 2017

volume

40

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25 September 2017

issue

1

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25 September 2017

page(s)

51-61

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Polymorphisms and rare sequence variants at the ROM1 locus

25 September 2017

cites work

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Cloning of the CDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies

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7 January 2021

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

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7 January 2021

Investigation of disease mechanisms in retinitis pigmentosa

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7 January 2021

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

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7 January 2021

Age-related macular degeneration

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7 January 2021

Dominantly inherited macular dystrophy with flecks (Stargardt)

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7 January 2021

Positional cloning: let's not call it reverse anymore

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7 January 2021

Butterfly--Shaped Pigment Dystrophy of the Fovea

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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

Inherited macular dystrophies: a clinical overview

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7 January 2021

The gene for Best's macular dystrophy is located at 11q13 in a Swedish family

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7 January 2021

Mapping the eye diseases

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7 January 2021

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

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7 January 2021

Drusen and Disciform Macular Detachment and Degeneration

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7 January 2021

A polymorphic DNA marker genetically linked to Huntington's disease

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7 January 2021

On the molecular genetics of retinitis pigmentosa

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7 January 2021

Senile macular degeneration: a case-control study.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

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7 January 2021

Structure and function in rhodopsin. 7. Point mutations associated with autosomal dominant retinitis pigmentosa

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7 January 2021

Identification of the cystic fibrosis gene: genetic analysis

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7 January 2021

Long-term follow-up of dominant macular dystrophy with flecks (Stargardt)

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7 January 2021

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

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7 January 2021

Monozygotic Twins With Age-Related Macular Degeneration

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7 January 2021

Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy

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7 January 2021

Gene mapping of ocular diseases

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7 January 2021

Variable number of tandem repeat (VNTR) markers for human gene mapping

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7 January 2021

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

1 reference

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7 January 2021

A 2 base bair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea

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7 January 2021

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7 January 2021

X-shaped macular dystrophy with flavimaculatus flecks

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7 January 2021

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

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7 January 2021

Genetic linkage: interpreting lod scores

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7 January 2021

Constitutively active mutants of rhodopsin

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7 January 2021

Identification of the cystic fibrosis gene: chromosome walking and jumping

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7 January 2021

North Carolina macular dystrophy (MCDR1). A review and refined mapping to 6q14-q16.2.

1 reference

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7 January 2021

North Carolina macular dystrophy is assigned to chromosome 6

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7 January 2021

North Carolina macular dystrophy: exclusion map using RFLPs and microsatellites.

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7 January 2021

North Carolina's dominant progressive foveal dystrophy: how progressive is it?

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7 January 2021

Über familiäre, progressive Degeneration in der Maculagegend des Auges

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

Three autosomal dominant corneal dystrophies map to chromosome 5q

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7 January 2021

1 reference

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7 January 2021

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

1 reference

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7 January 2021

1 reference

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7 January 2021

Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter

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7 January 2021

A second-generation linkage map of the human genome

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7 January 2021

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2895%2980047-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2895%2980047-6

7 January 2021

Two different genes for X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2895%2980047-6

7 January 2021

Pathophysiology of age-related macular degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2895%2980047-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2895%2980047-6

7 January 2021

Molecular genetics of retinoblastoma.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2895%2980047-6

7 January 2021

Exclusion of chromosome 11q13 region as a genetic locus responsible for autosomal dominant Stargardt's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2895%2980047-6

7 January 2021

Patterned dystrophies of the retinal pigment epithelium

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2895%2980047-6

7 January 2021

Autosomal-dominant fundus flavimaculatus. Clinicopathologic correlation

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2895%2980047-6

7 January 2021

Age-related macular degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2895%2980047-6

7 January 2021

10.1016/S0039-6257(95)80047-6

Identifiers

DOI

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25 September 2017

1 reference