(Q34565729)

3 August 2017

title

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

1 reference

3 August 2017

author

Veronica van Heyningen

1 reference

3 August 2017

David R FitzPatrick

0 references

Adele Schneider

1 reference

3 August 2017

author name string

Kathleen A Williamson

1 reference

3 August 2017

Ann M Hever

1 reference

3 August 2017

Joe Rainger

1 reference

3 August 2017

R Curtis Rogers

1 reference

3 August 2017

Alex Magee

1 reference

3 August 2017

Zdenek Fiedler

1 reference

3 August 2017

Wee Teik Keng

1 reference

3 August 2017

Freddie H Sharkey

1 reference

3 August 2017

Niolette McGill

1 reference

3 August 2017

Clare J Hill

1 reference

3 August 2017

Mario Messina

1 reference

3 August 2017

Peter D Turnpenny

1 reference

3 August 2017

Judy A Fantes

1 reference

3 August 2017

publication date

16 March 2006

1 reference

3 August 2017

published in

Human Molecular Genetics

1 reference

3 August 2017

1 reference

3 August 2017

1 reference

3 August 2017

page(s)

1413-1422

1 reference

Bilateral microphthalmia, esophageal atresia, and cryptorchidism: the anophthalmia-esophageal-genital syndrome

3 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Bilateral anophthalmia, esophageal atresia, and right cryptorchidism: a new entity?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Bilateral anophthalmia and oesophageal atresia in a newborn female: a new case of the anophthalmia-oesophageal-genital (AEG) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Association of oesophageal atresia, anophthalmia and renal duplex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Association of microphthalmia with esophageal atresia: report of two new patients and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

SOX2 anophthalmia syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

The cDNA sequence and chromosomal location of the human SOX2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Pairing SOX off: with partners in the regulation of embryonic development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Multipotent cell lineages in early mouse development depend on SOX2 function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Two distinct subgroups of Group B Sox genes for transcriptional activators and repressors: their expression during embryonic organogenesis of the chicken

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Comparative expression of the mouse Sox1, Sox2 and Sox3 genes from pre-gastrulation to early somite stages.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Region-specific expression of chicken Sox2 in the developing gut and lung epithelium: regulation by epithelial-mesenchymal interactions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Antero-posterior patterning of the vertebrate digestive tract: 40 years after Nicole Le Douarin's PhD thesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Lung morphogenesis revisited: old facts, current ideas

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Mammalian lung development: interactions in primordium formation and bronchial morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Three-dimensional imaging clarifies the process of tracheoesophageal separation in the rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Tbx4-Fgf10 system controls lung bud formation during chicken embryonic development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Fgf10 is essential for limb and lung formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Fgfr2 is required for limb outgrowth and lung-branching morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Defects in tracheoesophageal and lung morphogenesis in Nkx2.1(-/-) mouse embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Sonic hedgehog is essential to foregut development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Genetic players in esophageal atresia and tracheoesophageal fistula

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Role of SOX2 mutations in human hippocampal malformations and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

Optical projection tomography as a tool for 3D microscopy and gene expression studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL064

21 January 2018

Identifiers

DOI

10.1093/HMG/DDL064

1 reference

3 August 2017

1 reference