(Q41918689)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17406642%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

title

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17406642%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference

7

1 reference

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28 December 2019

Veronica van Heyningen

9

1 reference

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28 December 2019

Isabel Hanson

6

1 reference

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28 December 2019

author name string

R Alex Henderson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17406642%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Kathy Williamson

2

1 reference

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28 December 2019

Sally Cumming

3

1 reference

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28 December 2019

Michael P Clarke

4

1 reference

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28 December 2019

Sally Ann Lynch

5

1 reference

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28 December 2019

Sanjay Sisodiya

8

1 reference

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28 December 2019

publication date

4 April 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17406642%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

28 December 2019

published in

1 reference

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28 December 2019

volume

15

1 reference

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28 December 2019

issue

8

1 reference

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28 December 2019

page(s)

898-901

1 reference

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201826

28 December 2019

exact match

0 references

cites work

Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201826

Developmental eye disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201826

7 January 2021

The genetic and molecular basis of congenital eye defects

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201826

7 January 2021

Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201826

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201826

7 January 2021

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201826

7 January 2021

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201826

7 January 2021

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201826

7 January 2021

PAX6 mutations: genotype-phenotype correlations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201826

7 January 2021

Heterozygous mutations of OTX2 cause severe ocular malformations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201826

7 January 2021

Polymicrogyria and absence of pineal gland due to PAX6 mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201826

7 January 2021

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201826

7 January 2021

Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201826

7 January 2021

Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201826

7 January 2021

Involvement of Pax6 and Otx2 in the forebrain-specific regulation of the vertebrate homeobox gene ANF/Hesx1.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201826

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201826

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201826

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17406642%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

28 December 2019

1005387426

0 references

1 reference