(Q33758632)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361016%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361016%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361016%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Anthony Robson

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361016%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

author name string

Rajarshi Mukhopadhyay

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361016%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Panagiotis I Sergouniotis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361016%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Alexander C Day

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361016%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Genevieve Wright

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361016%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Sophie Devery

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361016%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Bart P Leroy

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361016%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Graham E Holder

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361016%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Zheng Li

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361016%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Andrew R Webster

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361016%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

publication date

26 March 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361016%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361016%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

volume

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361016%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

page(s)

540-548

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361016%20AND%20SRC:MED&resulttype=core&format=json

Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.

29 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846851

Evaluation of MFRP as a candidate gene for high hyperopia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846851

Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846851

Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846851

ISCEV standard for clinical pattern electroretinography--2007 update

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846851

A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846851

Spatial and temporal expression of MFRP and its interaction with CTRP5.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846851

Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846851

Nonsense-mediated decay approaches the clinic

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846851

Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846851

Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type Frizzled-related protein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846851

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846851

A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846851

Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20361016

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361016%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

PubMed publication ID

20361016

1 reference