Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes (Q34429235)

2 August 2017

title

Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes (English)

1 reference

genotype-phenotype correlation

2 August 2017

main subject

1 reference

exudative vitreoretinopathy

inferred from title

1 reference

1 reference

Minghui Qin

1

1 reference

2 August 2017

Hideyuki Hayashi

2

1 reference

2 August 2017

Kenji Oshima

3

1 reference

2 August 2017

Tomoko Tahira

4

1 reference

2 August 2017

Kenshi Hayashi

5

1 reference

2 August 2017

Hiroyuki Kondo

6

1 reference

2 August 2017

publication date

1 August 2005

1 reference

2 August 2017

1 reference

2 August 2017

volume

26

1 reference

2 August 2017

issue

2

1 reference

2 August 2017

page(s)

104-112

1 reference

Fluorescein angiographic findings in familial exudative vitreoretinopathy

2 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

The Gene for Autosomal Dominant Familial Exudative Vitreoretinopathy (Criswick-Schepens) on the Long Arm of Chromosome 11

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

High bone density due to a mutation in LDL-receptor-related protein 5

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Wnt signaling: a common theme in animal development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Osteoporosis-pseudoglioma syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Mutant Frizzled 4 associated with vitreoretinopathy traps wild-type Frizzled in the endoplasmic reticulum by oligomerization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Microsatellite genotyping of post-PCR fluorescently labeled markers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Delineation of the critical interval for the familial exudative vitreoretinopathy gene by linkage and haplotype analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

An LDL-receptor-related protein mediates Wnt signalling in mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Linkage and candidate gene analysis of autosomal-dominant familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

An extracellular beta-propeller module predicted in lipoprotein and scavenger receptors, tyrosine kinases, epidermal growth factor precursor, and extracellular matrix components

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

A mechanism for Wnt coreceptor activation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

arrow encodes an LDL-receptor-related protein essential for Wingless signalling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20191

7 January 2021

Identifiers

DOI

10.1002/HUMU.20191

1 reference

2 August 2017

1 reference