(Q36509388)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385794%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385794%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385794%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

3

Tanya M Bardakjian

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385794%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

7

Adele Schneider

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385794%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

author name string

Jie Zhou

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385794%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Femida Kherani

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385794%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

James Katowitz

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385794%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Nkecha Hughes

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385794%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Terri L Young

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385794%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

publication date

24 March 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385794%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385794%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385794%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

page(s)

583-592

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385794%20AND%20SRC:MED&resulttype=core&format=json

Anophthalmia and microphthalmia

5 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Regulatory networks in embryo-derived pluripotent stem cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

The epidemiology of anophthalmia and microphthalmia in Sweden

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Heterozygous mutations of OTX2 cause severe ocular malformations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Anophthalmia and microphthalmia in the Alberta Congenital Anomalies Surveillance System

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Sox2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brain

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Mutations in SOX2 cause anophthalmia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Multipotent cell lineages in early mouse development depend on SOX2 function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Identification of Sox-2 regulatory region which is under the control of Oct-3/4-Sox-2 complex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Mouse small eye results from mutations in a paired-like homeobox-containing gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Frizzled 5 signaling governs the neural potential of progenitors in the developing Xenopus retina.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

SOX2 anophthalmia syndrome.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Developmental expression of a novel murine homeobox gene (Chx10): evidence for roles in determination of the neuroretina and inner nuclear layer

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275209

Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia

21 September 2018

1 reference

12 December 2020

Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997

1 reference

12 December 2020

Association of anophthalmia and esophageal atresia

1 reference

12 December 2020

Two sibs with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome)

1 reference

12 December 2020

Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18385794%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

PubMed publication ID

18385794

1 reference