Anophthalmia and microphthalmia (Q21202957)

Dimensions Publication ID

Dimensions

18 August 2022

Amit S Verma

1

Amit S

Verma

1 reference

Dimensions Publication ID

Dimensions

1046623397

Orphanet Journal of Rare Diseases

18 August 2022

language of work or name

English

0 references

publication date

26 November 2007

7 references

22 April 2019

25 April 2019

11 December 2019

19 December 2019

20 December 2019

22 December 2019

22 December 2020

7 references

22 April 2019

25 April 2019

11 December 2019

19 December 2019

20 December 2019

22 December 2019

22 December 2020

2

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page(s)

47

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issue

1

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copyright license

Creative Commons Attribution 2.0 Generic

7 references

22 April 2019

25 April 2019

11 December 2019

19 December 2019

20 December 2019

22 December 2019

on focus list of Wikimedia project

22 December 2020

copyright status

copyrighted

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ScienceSource

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exact match

https://scigraph.springernature.com/pub.10.1186/1750-1172-2-47

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cites work

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

CRYBA4, a novel human cataract gene, is also involved in microphthalmia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Heterozygous mutations of OTX2 cause severe ocular malformations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Developmental eye disorders

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Bilateral congenital anophthalmos and agenesis of the optic pathways

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Interplay of Pax6 and SOX2 in lens development as a paradigm of genetic switch mechanisms for cell differentiation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

The management of orbital cysts associated with congenital microphthalmos and anophthalmos

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Mutations in SOX2 cause anophthalmia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Bony orbital development after early enucleation in humans

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Geographical variation in anophthalmia and microphthalmia in England, 1988-94

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Imaging findings in patients with clinical anophthalmos.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Growth retardation and volume determinations of the anophthalmic orbit.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

12 September 2017

Clinical anophthalmos

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

An update on microphthalmos and coloboma. A brief survey of genetic disorders with microphthalmos and coloboma

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

THE EFFECT OF EARLY ENUCLEATION ON THE ORBIT IN ANIMALS AND HUMANS.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Bilateral aplasia of the optic nerve, chiasm, and tracts in an otherwise healthy infant

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

The descriptive epidemiology of anophthalmia and microphthalmia.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Clusters of anophthalmia ... or in Norway

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Clusters of anophthalmia. No link with benomyl in Italy...

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Anophthalmia and benomyl in Italy: a multicenter study based on 940,615 newborns

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Evaluation of an integrated orbital tissue expander in an anophthalmic feline model.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Role of SOX2 mutations in human hippocampal malformations and epilepsy

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Recurrence ofSOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

SOX2 anophthalmia syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Integrated reconstructive strategies for treating the anophthalmic orbit.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

29 November 2018

Congenital cystic eye.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Fetal ocular biometry by ultrasound.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246098

Prenatal diagnosis of otocephaly with microphthalmia/anophthalmia using ultrasound and magnetic resonance imaging

29 November 2018

1 reference

12 December 2020

Parvovirus B19 associated with fetal abnormality

1 reference

12 December 2020

Complex microphthalmos

1 reference

12 December 2020

Simple microphthalmos

1 reference

12 December 2020

First- and second-trimester diagnosis of fetal ocular defects and associated anomalies: report of eight cases

1 reference

12 December 2020

X-linked clinical anophthalmos Localization of the gene to Xq27-Xq28

1 reference

12 December 2020

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

1 reference

12 December 2020

Early sonographic detection of recurrent fetal eye anomalies

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

Descriptive epidemiology of anophthalmia and microphthalmia, Hawaii, 1986-2001

1 reference

12 December 2020

Early and late onset fetal microphthalmia

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-2-47

1 reference

Dimensions Publication ID

4107592

1046623397

0 references

4107592

1 reference

1 reference

1 reference