(Q24530076)

4 July 2017

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

1 reference

4 July 2017

Eduardo D Silva

3

0 references

Karl Broman

object named as

Karl W Broman

10

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author name string

Olof H Sundin

1

1 reference

4 July 2017

Gregory S Leppert

2

1 reference

4 July 2017

Jun-Ming Yang

4

1 reference

4 July 2017

Sharola Dharmaraj

5

1 reference

4 July 2017

Irene H Maumenee

6

1 reference

4 July 2017

Luisa Coutinho Santos

7

1 reference

4 July 2017

Cameron F Parsa

8

1 reference

4 July 2017

Elias I Traboulsi

9

1 reference

4 July 2017

Cathy Dibernardo

11

1 reference

4 July 2017

Janet S Sunness

12

1 reference

4 July 2017

Jeffrey Toy

13

1 reference

4 July 2017

Ethan M Weinberg

14

1 reference

4 July 2017

language of work or name

English

0 references

publication date

23 June 2005

1 reference

Proceedings of the National Academy of Sciences of the United States of America

4 July 2017

1 reference

4 July 2017

102

1 reference

4 July 2017

27

1 reference

4 July 2017

9553-9558

1 reference

Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair

4 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

Genetic basis of total colourblindness among the Pingelapese islanders

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

Retinal degeneration mutants in the mouse

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

A large family of putative transmembrane receptors homologous to the product of the Drosophila tissue polarity gene frizzled

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

Secreted antagonists of the Wnt signalling pathway

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

Comprehensive human genetic maps: individual and sex-specific variation in recombination

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

A new member of the frizzled family from Drosophila functions as a Wingless receptor

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

In vivo biometry in the mouse eye with low coherence interferometry

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

Homeostasis of eye growth and the question of myopia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

Identification of domain structures in the propeptide of corin essential for the processing of proatrial natriuretic peptide

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

Dark adaptation and the retinoid cycle of vision

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

Modifier genes in mice and humans

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

Estimation of allele frequencies with data on sibships

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

BMP-1 and the astacin family of metalloproteinases: a potential link between the extracellular matrix, growth factors and pattern formation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

27 September 2017

Familial Nanophthalmos

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

Doyne Memorial Lecture, 1979. Retinal malformations: aetiological heterogeneity and morphological similarity in congenital retinal non-attachment and falciform folds

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172243

30 May 2018

The nanophthalmic macula

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0501451102

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0501451102

Retinoic acid signals the direction of ocular elongation in the guinea pig eye.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0501451102

Nanophthalmic sclera. Morphologic and tissue culture studies

21 January 2018

1 reference

12 December 2020

Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. A new recessive syndrome

1 reference

12 December 2020

Scleral cell growth is influenced by retinal pigment epithelium in vitro

1 reference

12 December 2020

Autosomal recessive nanophthalmos

1 reference

12 December 2020

Oculometric characteristics of extreme hypermetropia in two faroese families

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0501451102

1 reference

OpenCitations bibliographic resource ID

4 July 2017

0 references

4041261

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference