(Q34999556)

5 August 2017

title

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies (English)

1 reference

5 August 2017

6

Gudrun Nürnberg

0 references

Mark Lathrop

12

Mark Lathrop

1 reference

5 August 2017

Muhammad Sajid Hussain

Muhammad Sajid Hussain

10

0 references

Sibel Aylin Ugur

Sibel Ugur Iseri

1

0 references

Peter Nürnberg

13

Peter Nürnberg

1 reference

5 August 2017

3

Martin Farrall

1 reference

5 August 2017

Robert J Osborne

2

1 reference

5 August 2017

Alexander William Wyatt

4

1 reference

5 August 2017

Ghazala Mirza

5

1 reference

5 August 2017

Christian Kluck

7

1 reference

5 August 2017

Helen Herbert

8

1 reference

5 August 2017

Angela Martin

9

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5 August 2017

J Richard O Collin

11

1 reference

5 August 2017

Jiannis Ragoussis

14

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5 August 2017

Nicola K Ragge

15

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5 August 2017

publication date

1 October 2009

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5 August 2017

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5 August 2017

volume

30

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5 August 2017

issue

10

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5 August 2017

page(s)

1378-1386

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SOX2 anophthalmia syndrome.

5 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

GDF6, a novel locus for a spectrum of ocular developmental anomalies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Foxe3 is required for morphogenesis and differentiation of the anterior segment of the eye and is sensitive to Pax6 gene dosage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Forkhead Foxe3 maps to the dysgenetic lens locus and is critical in lens development and differentiation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

A capture-recapture model to estimate prevalence of children born in Scotland with developmental eye defects.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Co-crystal structure of the HNF-3/fork head DNA-recognition motif resembles histone H5

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Mutations in SOX2 cause anophthalmia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Allegro, a new computer program for multipoint linkage analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Causes of childhood blindness in the People's Republic of China: results from 1131 blind school students in 18 provinces

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Severe defects in proliferation and differentiation of lens cells in Foxe3 null mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Foxe view of lens development and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Sequential activation of transcription factors in lens induction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Heterozygous mutations of OTX2 cause severe ocular malformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

A practical guide to the management of anophthalmia and microphthalmia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Anophthalmia and microphthalmia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21079

7 January 2021

Identifiers

DOI

10.1002/HUMU.21079

1 reference

5 August 2017

1 reference