(Q33582105)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

A male with unilateral microphthalmia reveals a role for TMX3 in eye development (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Lars Ellgaard

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

David R. FitzPatrick

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Jarema Malicki

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

19

Herwig Baier

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

author name string

Ryan Chao

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Linda Nevin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Pooja Agarwal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Jan Riemer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Xiaoyang Bai

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Allen Delaney

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Matthew Akana

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Nelson JimenezLopez

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Tanya Bardakjian

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Adele Schneider

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Nicolas Chassaing

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Daniel F Schorderet

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Douglas B Gould

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Yan Zhang

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Anne Slavotinek

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

language of work or name

English

0 references

publication date

11 May 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

page(s)

e10565

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

2 February 2020

copyright license

start time

11 May 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2868029/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868029

Ectopic Pax2 expression in chick ventral optic cup phenocopies loss of Pax2 expression

21 June 2018

1 reference

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Genotype, haplotype and copy-number variation in worldwide human populations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868029

Anophthalmia and microphthalmia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868029

Structure-function analysis of the endoplasmic reticulum oxidoreductase TMX3 reveals interdomain stabilization of the N-terminal redox-active domain.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868029

Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation

21 June 2018

1 reference

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The diploid genome sequence of an individual human

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868029

Nt mutation causing laterality defects associated with deletion of rotatin.

21 June 2018

1 reference

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Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868029

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868029

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868029

A comprehensive analysis of common copy-number variations in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868029

Global variation in copy number in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868029

An initial map of insertion and deletion (INDEL) variation in the human genome.

21 June 2018

1 reference

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Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.

21 June 2018

1 reference

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Yeast transcripts cleaved by an internal ribozyme provide new insight into the role of the cap and poly(A) tail in translation and mRNA decay

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868029

Gata4 expression in lateral mesoderm is downstream of BMP4 and is activated directly by Forkhead and GATA transcription factors through a distal enhancer element

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868029

Heterozygous mutations of OTX2 cause severe ocular malformations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868029

The zebrafish pob gene encodes a novel protein required for survival of red cone photoreceptor cells.

21 June 2018

1 reference

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Identification and characterization of a novel thioredoxin-related transmembrane protein of the endoplasmic reticulum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868029

Approaches to study neurogenesis in the zebrafish retina.

21 June 2018

1 reference

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Ocular coloboma: a reassessment in the age of molecular neuroscience

21 June 2018

1 reference

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Mutations in SOX2 cause anophthalmia

21 June 2018

1 reference

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Expression of zebrafish bHLH genes ngn1 and nrd defines distinct stages of neural differentiation

21 June 2018

1 reference

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rax, a novel paired-type homeobox gene, shows expression in the anterior neural fold and developing retina

21 June 2018

1 reference

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Pax2 contributes to inner ear patterning and optic nerve trajectory

21 June 2018

1 reference

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The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868029

Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation

21 June 2018

1 reference

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Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

21 June 2018

1 reference

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21 June 2018

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Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.

21 January 2018

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A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect.

21 January 2018

1 reference

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No turning, a mouse mutation causing left-right and axial patterning defects.

21 January 2018

1 reference

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Light-induced rod and cone cell death and regeneration in the adult albino zebrafish (Danio rerio) retina.

21 January 2018

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The clot gene of Drosophila melanogaster encodes a conserved member of the thioredoxin-like protein superfamily.

21 January 2018

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Use of Affymetrix mapping arrays in the diagnosis of gene copy number variation

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20485507

12 December 2020

inferred from PubMed ID database lookup

Genetic dissection of Pax6 dosage requirements in the developing mouse eye

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20485507

12 December 2020

inferred from PubMed ID database lookup

Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20485507

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1371/JOURNAL.PONE.0010565

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485507%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

PubMed publication ID

20485507

1 reference