(Q24680150)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11389162%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

Molecular genetic heterogeneity in autosomal dominant drusen (English)

1 reference

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8 November 2019

1 reference

1 reference

6

1 reference

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8 November 2019

author name string

E E Tarttelin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11389162%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

C Y Gregory-Evans

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11389162%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

A C Bird

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11389162%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

R G Weleber

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11389162%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

M L Klein

5

1 reference

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8 November 2019

K Gregory-Evans

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11389162%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

language of work or name

English

0 references

publication date

1 June 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11389162%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

8 November 2019

published in

1 reference

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8 November 2019

volume

38

1 reference

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8 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11389162%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

page(s)

381-384

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11389162%20AND%20SRC:MED&resulttype=core&format=json

Cloning and characterization of a novel orphan G-protein-coupled receptor localized to human chromosome 2p16

8 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734899

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734899

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734899

A new locus for dominant drusen and macular degeneration maps to chromosome 6q14.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734899

Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734899

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734899

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734899

Dominantly inherited drusen represent more than one disorder: a historical review

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734899

Doyne's honeycomb retinal degeneration. Clinical and genetic features

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734899

Assessment of the phenotypic range seen in Doyne honeycomb retinal dystrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734899

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734899

A novel mutation in the promotor region in a family with a mild form of retinoblastoma indicates the location of a new regulatory domain for the RB1 gene

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734899

Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration

28 November 2018

1 reference

12 December 2020

[Hereditary drusen of Bruch's membrane. II: Studies of semi-thin sections and electron microscopy results]

1 reference

12 December 2020

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

1 reference

12 December 2020

Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD)

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.38.6.381

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11389162%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11389162%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

PubMed publication ID

11389162

1 reference