(Q43117774)

English

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

scientific article published in June 2010

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scholarly article

1 reference

Europe PubMed Central

14 November 2017

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. (English)

1 reference

Europe PubMed Central

14 November 2017

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inferred from title

exudative vitreoretinopathy

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object named as

Rolf H Sijmons

12

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object named as

Carmen Ayuso

15

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Lies H. Hoefsloot

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object named as

Lies H Hoefsloot

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Europe PubMed Central

14 November 2017

author name string

Konstantinos Nikopoulos

1

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Europe PubMed Central

14 November 2017

Hanka Venselaar

2

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Europe PubMed Central

14 November 2017

Rob W J Collin

3

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Europe PubMed Central

14 November 2017

Rosa Riveiro-Alvarez

4

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Europe PubMed Central

14 November 2017

F Nienke Boonstra

5

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Europe PubMed Central

14 November 2017

Johanna M M Hooymans

6

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Europe PubMed Central

14 November 2017

Arijit Mukhopadhyay

7

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14 November 2017

Deborah Shears

8

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Europe PubMed Central

14 November 2017

Marleen van Bers

9

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14 November 2017

Ilse J de Wijs

10

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14 November 2017

Anthonie J van Essen

11

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14 November 2017

Mauk A D Tilanus

13

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14 November 2017

C Erik van Nouhuys

14

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14 November 2017

Frans P M Cremers

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14 November 2017

language of work or name

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publication date

1 June 2010

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14 November 2017

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14 November 2017

31

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14 November 2017

656-666

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6

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14 November 2017

Fluorescein angiographic findings in familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

21 January 2018

Expression of the type I diabetes-associated gene LRP5 in macrophages, vitamin A system cells, and the Islets of Langerhans suggests multiple potential roles in diabetes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

21 January 2018

Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

21 January 2018

Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

21 January 2018

Norrie disease in a family with a manifesting female carrier.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

21 January 2018

Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

21 January 2018

Clinical and molecular findings in osteoporosis-pseudoglioma syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

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inferred from DOI database lookup

Bone biomechanical properties in LRP5 mutant mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

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Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

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High bone mass in mice expressing a mutant LRP5 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

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Novel LRP5 missense mutation in a patient with a high bone mass phenotype results in decreased DKK1-mediated inhibition of Wnt signaling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolation of a candidate gene for Norrie disease by positional cloning

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the candidate gene for Norrie disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

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Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Protein structure prediction servers at University College London

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Plasmalemmal vesicle associated protein-1 is a novel marker implicated in brain tumor angiogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

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.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolation and characterization of a candidate gene for Norrie disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of a mutation within the NDP gene in a family with a manifesting female carrier

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Insights into Wnt binding and signalling from the structures of two Frizzled cysteine-rich domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Severe retinopathy of prematurity associated with FZD4 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Ultrastructural Study of Norrie's Disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal dominant exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

LRP5 gene polymorphisms and idiopathic osteoporosis in men.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Wnt signaling in eye organogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Low-density lipoprotein receptor-related protein 5 (LRP5) is essential for normal cholesterol metabolism and glucose-induced insulin secretion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

LRP5 coding polymorphisms influence the variation of peak bone mass in a normal population of French-Canadian women

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial exudative vitreoretinopathy. An expanded view

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

LDL receptor-related proteins 5 and 6 in Wnt/beta-catenin signaling: arrows point the way

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Regulated expression of Wnts and Frizzleds at specific stages of follicular development in the rodent ovary

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the Norrie disease gene: a new mutation in a Japanese family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Early response of neurons and glial cells to hypoxia in the retina

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

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.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel missense Norrie disease mutation associated with a severe ocular phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Influence of LRP5 Polymorphisms on Normal Variation in BMD

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Axin and Frat1 interact with dvl and GSK, bridging Dvl to GSK in Wnt-mediated regulation of LEF-1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

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.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Role of the Norrie disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Vascular changes in the cerebellum of Norrin /Ndph knockout mice correlate with high expression of Norrin and Frizzled-4.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

LDL-receptor-related protein 6 is a receptor for Dickkopf proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Missense mutations in the NDP gene in patients with a less severe course of Norrie disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Peripheral retinopathy in offspring of carriers of Norrie disease gene mutations. Possible transplacental effect of abnormal Norrin.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Retinal Vascular Pattern in Familial Exudative Vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Retinal involvement in familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Ectopic norrin induces growth of ocular capillaries and restores normal retinal angiogenesis in Norrie disease mutant mice.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

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.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel mutation in the Norrie disease gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Vascular defects and sensorineural deafness in a mouse model of Norrie disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular analysis of the NDP gene in two families with Norrie disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

PHD: predicting one-dimensional protein structure by profile-based neural networks

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

NDP gene mutations in 14 French families with Norrie disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Differential gene expression in Ndph-knockout mice in retinal development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the Norrie disease gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

LRP5 mutations linked to high bone mass diseases cause reduced LRP5 binding and inhibition by SOST.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

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.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Norrie disease and exudative vitreoretinopathy in families with affected female carriers.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

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.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

PV-1 is a component of the fenestral and stomatal diaphragms in fenestrated endothelia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Combination of the C1429T polymorphism in the G-protein beta-3 subunit gene and the A1330V polymorphism in the low-density lipoprotein receptor-related protein 5 gene is a risk factor for hypercholesterolaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

G-protein beta 3 subunit polymorphism C1429T and low-density lipoprotein receptor-related protein 5 polymorphism A1330V are risk factors for hypercholesterolemia in Japanese males--a prospective study over 5 years

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

LDL-receptor-related proteins in Wnt signal transduction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

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.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Two new missense mutations (A105T and C110G) in the Norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Norrie's disease (hereditary oculo-acoustic-cerebral degeneration). Report of a United States family.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

The C-terminal cytoplasmic Lys-thr-X-X-X-Trp motif in frizzled receptors mediates Wnt/beta-catenin signalling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Common Genetic Variation of the Low-Density Lipoprotein Receptor-Related Protein 5 and 6 Genes Determines Fracture Risk in Elderly White Men

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Dominant exudative vitreoretinopathy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

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.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Evolution and Classification of Cystine Knot-Containing Hormones and Related Extracellular Signaling Molecules

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Two new mutations in exon 3 of theNDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Progressive cerebellar, auditory, and esophageal dysfunction caused by targeted disruption of the frizzled-4 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Norrie's disease--differential diagnosis and treatment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

A model for familial exudative vitreoretinopathy caused by LPR5 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

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.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

The LRP5 high-bone-mass G171V mutation disrupts LRP5 interaction with Mesd.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21250

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.21250

1 reference

https://api.fatcat.wiki/v0/release/iucz3ihnzvf5xdfmnsyrbgbope

30 July 2022

based on heuristic

mapped directly with Wikidata item

release_iucz3ihnzvf5xdfmnsyrbgbope

1 reference

https://api.fatcat.wiki/v0/release/iucz3ihnzvf5xdfmnsyrbgbope

30 July 2022

based on heuristic

mapped directly with Wikidata item

1 reference

https://api.fatcat.wiki/v0/release/iucz3ihnzvf5xdfmnsyrbgbope

30 July 2022

based on heuristic

mapped directly with Wikidata item

Sitelinks

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