A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy (Q22009991)

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8 December 2019

title

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy (English)

1 reference

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EGF containing fibulin extracellular matrix protein 1

8 December 2019

main subject

1 reference

Doyne honeycomb retinal dystrophy

GOA release 2020-03-11

1 reference

1

E M Stone

E M

Stone

1 reference

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2

A J Lotery

A J

Lotery

1 reference

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6

R H Guymer

R H

Guymer

1 reference

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15

V C Sheffield

V C

Sheffield

1 reference

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8 December 2019

Munier FL

3

F L

Munier

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8 December 2019

Héon E

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E

Héon

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8 December 2019

Piguet B

5

B

Piguet

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8 December 2019

Vandenburgh K

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K

Vandenburgh

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8 December 2019

Cousin P

8

P

Cousin

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8 December 2019

Nishimura D

9

D

Nishimura

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8 December 2019

Swiderski RE

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R E

Swiderski

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8 December 2019

Silvestri G

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G

Silvestri

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8 December 2019

Mackey DA

12

D A

Mackey

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8 December 2019

Hageman GS

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G S

Hageman

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8 December 2019

Bird AC

14

A C

Bird

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8 December 2019

Schorderet DF

16

D F

Schorderet

1 reference

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8 December 2019

language of work or name

English

0 references

publication date

1 June 1999

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8 December 2019

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8 December 2019

volume

22

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8 December 2019

issue

2

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8 December 2019

page(s)

199-202

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[Clinical and histological study of the disease of Leventina. Disease belonging to the group of hyaline degenerescences of the posterior pole]

8 December 2019

cites work

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen

1 reference

7 January 2021

Is genetic predisposition an important risk factor in age-related macular degeneration?

1 reference

7 January 2021

Sibling correlations and segregation analysis of age-related maculopathy: the Beaver Dam Eye Study.

1 reference

7 January 2021

Age-related macular degeneration

1 reference

7 January 2021

Is the incidence of registrable age-related macular degeneration increasing?

1 reference

7 January 2021

Prevalence of age-related maculopathy. The Beaver Dam Eye Study

1 reference

7 January 2021

The prevalence of age-related maculopathy in the Rotterdam Study

1 reference

7 January 2021

Evolution of soft drusen in age-related macular degeneration

1 reference

7 January 2021

An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group

1 reference

7 January 2021

1 reference

7 January 2021

Human fibulin-1D: molecular cloning, expression and similarity with S1-5 protein, a new member of the fibulin gene family

1 reference

7 January 2021

An overexpressed gene transcript in senescent and quiescent human fibroblasts encoding a novel protein in the epidermal growth factor-like repeat family stimulates DNA synthesis

1 reference

7 January 2021

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

1 reference

7 January 2021

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Identification of the gene responsible for Best macular dystrophy

1 reference

7 January 2021

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)

1 reference

7 January 2021

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

1 reference

7 January 2021

Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin

1 reference

7 January 2021

Characterization and comparison of the human and mouse GLC1A glaucoma genes

1 reference

7 January 2021

Identifiers

DOI

10.1038/9722

2 references

Consolidated OpenCitations Corpus – April 2017

5088863

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10369267%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

8 December 2019

1015441105

0 references

5088863

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

5088863

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10369267%20AND%20SRC:MED&resulttype=core&format=json