(Q24651845)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334955%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334955%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference

isolated microphthalmia

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334955%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

author name string

Ravikanth Metlapally

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334955%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Khanh-Nhat Tran-Viet

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334955%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Anuradha Bulusu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334955%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Tristan R White

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334955%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Jaclyn Ellis

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334955%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Daniel Kao

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334955%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Terri L Young

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334955%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

language of work or name

English

0 references

publication date

4 March 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334955%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334955%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334955%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

page(s)

387-393

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334955%20AND%20SRC:MED&resulttype=core&format=json

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

4 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=2268852

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

A "silent" polymorphism in the MDR1 gene changes substrate specificity

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

Complex trait genetics of refractive error

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

Genetics. SNPs, silent but not invisible.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

The economic burden of major adult visual disorders in the United States

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

WNT/Frizzled signaling in eye development and disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

SNPselector: a web tool for selecting SNPs for genetic association studies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

Prevalence of refractive errors in a rural South Indian population

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

Homeostasis of eye growth and the question of myopia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

A test for linkage and association in general pedigrees: the pedigree disequilibrium test

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

Excessive hypermetropia: review and case report documented by echography.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

Pathologic Myopia and Choroidal Neovascularization

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

Hereditary high hypermetropia in the Faroe Islands

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

Genotype‐based association test for general pedigrees: The genotype‐PDT

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268852

Evidence that increased scleral growth underlies visual deprivation myopia in chicks

28 November 2018

1 reference

12 December 2020

Role of the axial length/corneal radius ratio in determining the refractive state of the eye

1 reference

12 December 2020

HEREDITARY CATARACTS AND MICROPHTHALMIA

1 reference

12 December 2020

On emmetropia and ametropia

1 reference

12 December 2020

Oculometric characteristics of extreme hypermetropia in two faroese families

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334955%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

PubMed publication ID

18334955

1 reference