(Q34328853)

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Septo-optic dysplasia

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

1 reference

Europe PubMed Central

Septo-optic dysplasia (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Mehul T Dattani

2

object named as

Mehul T Dattani

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

author name string

Emma A Webb

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

publication date

22 July 2009

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

18

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

393-397

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

https://scigraph.springernature.com/pub.10.1038/ejhg.2009.125

0 references

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

The role of SOX proteins in normal pituitary development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

Septo-optic dysplasia - novel insights into the aetiology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

Genetics of septo-optic dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

Systemic and ocular findings in 100 patients with optic nerve hypoplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

Septo-optic dysplasia complex: a heterogeneous malformation syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

Getting your head around Hex and Hesx1: forebrain formation in mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

Children with septo-optic dysplasia - how to improve and sharpen the diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

The homeobox gene Hesx1 is required in the anterior neural ectoderm for normal forebrain formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

Hypothesis: septo-optic dysplasia is a vascular disruption sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

Septo-optic dysplasia and pituitary dwarfism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

Syndrome of septo-optic-pituitary dysplasia: the clinical spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

Septo-optic dysplasia: MR imaging

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

Maternal age re septo-optic dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

6 July 2018

Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.125

21 January 2018

Hypopituitarism and neurodevelopmental abnormalities in relation to central nervous system structural defects in children with optic nerve hypoplasia.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.125

21 January 2018

Arrhythmicity in a child with septo-optic dysplasia and establishment of sleep-wake cyclicity with melatonin

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.125

21 January 2018

Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.125

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.125

21 January 2018

Refining clinical phenotypes in septo-optic dysplasia based on MRI findings.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.125

21 January 2018

Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.125

21 January 2018

Congenital hypopituitarism: clinical, molecular and neuroradiological correlates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987262

27 October 2018

Geographical Distribution of Optic Nerve Hypoplasia and Septo-optic Dysplasia in Northwest England

1 reference

https://pubmed.ncbi.nlm.nih.gov/19623216

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Studies on malformation of cranio-encephalic sutures. III. Agenesis of the septum lucidum with malformation of the optic tract]

1 reference

https://pubmed.ncbi.nlm.nih.gov/19623216

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Septo-optic dysplasia and maternal age

1 reference

https://pubmed.ncbi.nlm.nih.gov/19623216

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Panhypopituitarism: genetic versus acquired etiological factors

1 reference

https://pubmed.ncbi.nlm.nih.gov/19623216

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19623216

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2009.125

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

ResearchGate publication ID

0 references

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