(Q34050979)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20673862%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa (English)

1 reference

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9 February 2020

5

1 reference

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9 February 2020

Francesco Testa

11

1 reference

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9 February 2020

Francesca Simonelli

12

1 reference

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9 February 2020

Caroline C Klaver

16

1 reference

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9 February 2020

Sandro Banfi

18

1 reference

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9 February 2020

20

Dror Sharon

1 reference

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9 February 2020

21

Anneke I den Hollander

1 reference

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9 February 2020

author name string

Dikla Bandah-Rozenfeld

1

1 reference

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9 February 2020

Rob W J Collin

2

1 reference

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9 February 2020

Eyal Banin

3

1 reference

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9 February 2020

L Ingeborgh van den Born

4

1 reference

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9 February 2020

Anna M Siemiatkowska

6

1 reference

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9 February 2020

Lina Zelinger

7

1 reference

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9 February 2020

Muhammad I Khan

8

1 reference

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9 February 2020

Dirk J Lefeber

9

1 reference

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9 February 2020

Inbar Erdinest

10

1 reference

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9 February 2020

Krysta Voesenek

13

1 reference

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9 February 2020

Ellen A W Blokland

14

1 reference

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9 February 2020

Tim M Strom

15

1 reference

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9 February 2020

Raheel Qamar

17

1 reference

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9 February 2020

Frans P M Cremers

19

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9 February 2020

language of work or name

English

0 references

publication date

30 July 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20673862%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

9 February 2020

published in

1 reference

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9 February 2020

volume

87

1 reference

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9 February 2020

issue

2

1 reference

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9 February 2020

page(s)

199-208

1 reference

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Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice

9 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

Spacrcan binding to hyaluronan and other glycosaminoglycans. Molecular and biochemical studies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

The benign concentric annular macular dystrophy locus maps to 6p12.3-q16

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

Epidemiology of hereditary ocular disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

SPACRCAN in the interphotoreceptor matrix of the mouse retina: molecular, developmental and promoter analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

5 July 2018

Proteoglycans in retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

SPACRCAN, a novel human interphotoreceptor matrix hyaluronan-binding proteoglycan synthesized by photoreceptors and pinealocytes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

Primer3 on the WWW for general users and for biologist programmers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

Molecular characterization and genomic mapping of human IPM 200, a second member of a novel family of proteoglycans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

SPACR, a novel interphotoreceptor matrix glycoprotein in human retina that interacts with hyaluronan

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

Gene-based approach to human gene-phenotype correlations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

Retinitis pigmentosa. The Friedenwald Lecture

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

A study of retinitis pigmentosa in the City of Birmingham. II Clinical and genetic heterogeneity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

Identification and synthesis of a recognition signal for the attachment of glycosaminoglycans to proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

Xyloside-induced disruption of interphotoreceptor matrix proteoglycans results in retinal detachment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

ISCEV Standard for full-field clinical electroretinography (2008 update).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917719

Proteins and glycoproteins of the bovine interphotoreceptor matrix: composition and fractionation

28 October 2018

1 reference

12 December 2020

Prevalence of retinitis pigmentosa in Maine

1 reference

12 December 2020

Mucopolysaccharides (glycosaminoglycans) of the retina: identification, distribution and possible biological role

1 reference

12 December 2020

An analysis of retinal receptor orientation. II. Predictions for psychophysical tests

1 reference

12 December 2020

10.1016/J.AJHG.2010.07.004

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20673862%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20673862%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PubMed publication ID

20673862

1 reference