(Q42686991)

4 November 2017

title

OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium (English)

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4 November 2017

11

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4 November 2017

Ajoy Vincent

1

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Elise Héon

14

object named as

Elise Héon

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4 November 2017

13

FORGE Canada Consortium

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4 November 2017

Nicole Forster

2

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4 November 2017

Jason T Maynes

3

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4 November 2017

Tara A Paton

4

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4 November 2017

Gail Billingsley

5

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4 November 2017

Nicole M Roslin

6

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4 November 2017

Arfan Ali

7

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4 November 2017

Joanne Sutherland

8

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4 November 2017

Tom Wright

9

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4 November 2017

Carol A Westall

10

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4 November 2017

Christian R Marshall

12

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4 November 2017

language of work or name

English

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publication date

7 October 2014

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Journal of Medical Genetics

4 November 2017

published in

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4 November 2017

volume

51

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4 November 2017

issue

12

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4 November 2017

page(s)

797-805

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Patterned dystrophies of the retinal pigment epithelium. A review

4 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Butterfly-shaped pattern dystrophy: a genetic, clinical, and histopathological report

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Patterned dystrophy of the retinal pigment epithelium

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Vitelliform dystrophy and pattern dystrophy of the retinal pigment epithelium: concomitant presence in a family

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Vitelliform macular dystrophy and butterfly-shaped epithelial dystrophy: a continuum?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Genetic and phenotypic heterogeneity in pattern dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Chromosome locations of human EMX and OTX genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Mouse Otx2 functions in the formation and patterning of rostral head.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Heterozygous mutations of OTX2 cause severe ocular malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

PLINK: a tool set for whole-genome association and population-based linkage analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Enhanced pedigree error detection

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Coordinated conditional simulation with SLINK and SUP of many markers linked or associated to a trait in large pedigrees

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Fast and accurate long-read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

A map of human genome variation from population-scale sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

CUPSAT: prediction of protein stability upon point mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Functional Specificity of a Hox Protein Mediated by the Recognition of Minor Groove Structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Robust relationship inference in genome-wide association studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Estimating the age of rare disease mutations: the example of Triple-A syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Graded Otx2 activities demonstrate dose-sensitive eye and retina phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Otx2 gene deletion in adult mouse retina induces rapid RPE dystrophy and slow photoreceptor degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Loss of Otx2 in the adult retina disrupts retinal pigment epithelium function, causing photoreceptor degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

The homeobox gene Otx2 in development and disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Specification of the vertebrate eye by a network of eye field transcription factors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Functional roles of Otx2 transcription factor in postnatal mouse retinal development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

A new GFP-tagged line reveals unexpected Otx2 protein localization in retinal photoreceptors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102620

10.1136/JMEDGENET-2014-102620

21 January 2018

Identifiers

DOI

1 reference

4 November 2017

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