(Q74511727)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11556484%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

review article

1 reference

title

Molecular genetics of macular degeneration (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11556484%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

1 reference

M A Musarella

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11556484%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

publication date

1 May 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11556484%20AND%20SRC:MED&resulttype=core&format=json

Documenta Ophthalmologica

11 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11556484%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

102

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11556484%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11556484%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

page(s)

165-177

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11556484%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/a:1017510515893

11 November 2019

exact match

0 references

cites work

Early findings in central areolar choroidal dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Long-term Evaluation of Patients with Best's Vitelliform Dystrophy

1 reference

12 December 2020

Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby's fundus dystrophy mutation.

1 reference

12 December 2020

Butterfly--Shaped Pigment Dystrophy of the Fovea

1 reference

12 December 2020

Genetic risk of age-related maculopathy. Population-based familial aggregation study

1 reference

12 December 2020

Patterned dystrophies of the retinal pigment epithelium

1 reference

12 December 2020

[EOG in adult vitelliform macular degeneration, butterfly-shaped pattern dystrophy and Best disease]

1 reference

12 December 2020

North Carolina macular dystrophy and central areolar pigment epithelial dystrophy. One family, one disease

1 reference

12 December 2020

Features of Sorsby's fundus dystrophy.

1 reference

12 December 2020

Monozygotic Twins With Age-Related Macular Degeneration

1 reference

12 December 2020

Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration

1 reference

12 December 2020

The mutation spectrum of the bestrophin protein--functional implications

1 reference

12 December 2020

Pattern dystrophy of the pigment epithelium

1 reference

12 December 2020

1 reference

12 December 2020

Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14

1 reference

12 December 2020

Electroretinographic findings in macular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Drusen and Disciform Macular Detachment and Degeneration

1 reference

12 December 2020

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

1 reference

12 December 2020

Stargardt's disease and fundus flavimaculatus: evaluation of morphologic progression and intrafamilial co-existence.

1 reference

12 December 2020

Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis

1 reference

12 December 2020

North Carolina macular dystrophy phenotype in France maps to the MCDR1 locus.

1 reference

12 December 2020

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

1 reference

12 December 2020

North Carolina macular dystrophy is assigned to chromosome 6

1 reference

12 December 2020

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

1 reference

12 December 2020

The inheritance of senile macule degeneration

1 reference

12 December 2020

[Color vision defect. A early sign of Sorsby retinal dystrophy?]

1 reference

12 December 2020

Identification of the gene responsible for Best macular dystrophy

1 reference

12 December 2020

Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

1 reference

12 December 2020

Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave

1 reference

12 December 2020

"Vitelliform" lesions in adults

1 reference

12 December 2020

Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene

1 reference

12 December 2020

A clinical review of Stargardt's disease and/or fundus flavimaculatus with follow-up

1 reference

12 December 2020

Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa

1 reference

12 December 2020

Adult vitelliform macular degeneration: diagnosis and natural history

1 reference

12 December 2020

Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus

1 reference

12 December 2020

Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p.

1 reference

12 December 2020

A maculopathy associated with the 15257 mitochondrial DNA mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy

1 reference

12 December 2020

The development of central areolar choroidal dystrophy.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Family history and age-related maculopathy: the Blue Mountains Eye Study.

1 reference

12 December 2020

Exclusion of atypical vitelliform macular dystrophy from 8q24.3 and from other known macular degenerative loci

1 reference

12 December 2020

A new locus for autosomal dominant stargardt-like disease maps to chromosome 4.

1 reference

12 December 2020

Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene

1 reference

12 December 2020

Sorsby's fundus dystrophy: a case report of 24 years follow-up with electrodiagnostic tests and indocyanine green angiography

1 reference

12 December 2020

Abnormal dark adaptation and rhodopsin kinetics in Sorsby's fundus dystrophy

1 reference

12 December 2020

North Carolina macular dystrophy (MCDR1) in Texas.

1 reference

12 December 2020

Long-term follow-up of Stargardt's disease and fundus flavimaculatus

1 reference

12 December 2020

Stargardt's disease: the evolution of a diagnosis

1 reference

12 December 2020

A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation

1 reference

12 December 2020

Visual acuity in patients with best vitelliform macular dystrophy

1 reference

12 December 2020

Histopathologic Findings in Best's Vitelliform Macular Dystrophy

1 reference

12 December 2020

North Carolina macular dystrophy: clinical features, genealogy, and genetic linkage analysis

1 reference

12 December 2020

Choroidal neovascular membrane in Best's vitelliform macular dystrophy

1 reference

12 December 2020

Juvenile sex-linked retinoschisis: clinical and genetic studies

1 reference

12 December 2020

Central areolar pigment epithelial dystrophy

1 reference

12 December 2020

Adult vitelliform macular dystrophy

1 reference

12 December 2020

Functional Implications of the Spectrum of Mutations Found in 234 Cases With X-linked Juvenile Retinoschisis (XLRS)

1 reference

12 December 2020

Stargardt's Disease and Fundus Flavimaculatus

1 reference

12 December 2020

Sex-linked juvenile retinoschisis

1 reference

12 December 2020

Familial aggregation of age-related maculopathy.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Monozygotic twin brothers with age-related macular degeneration

1 reference

12 December 2020

Congenital hereditary sex-linked retinoschisis

1 reference

12 December 2020

A clinicopathologic study of a peculiar foveomacular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020