(Q37079660)

18 August 2017

1 reference

title

Septo-optic dysplasia - novel insights into the aetiology (English)

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18 August 2017

septo-optic dysplasia

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Daniel Kelberman

1

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PubMed ID

18259104

18 August 2017

Mehul Tulsidas Dattani

series ordinal

2

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18 August 2017

6 February 2008

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18 August 2017

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18 August 2017

69

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18 August 2017

5

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18 August 2017

257-265

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HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism

18 August 2017

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesis

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Sox genes find their feet

21 January 2018

1 reference

Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators

21 January 2018

1 reference

Vertebrate neurogenesis is counteracted by Sox1-3 activity

21 January 2018

1 reference

SOX3 is required during the formation of the hypothalamo-pituitary axis

21 January 2018

1 reference

Early development of the pituitary gland: induction and shaping of Rathke's pouch.

21 January 2018

1 reference

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

21 January 2018

1 reference

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Multipotent cell lineages in early mouse development depend on SOX2 function

21 January 2018

1 reference

SOX2 is a dose-dependent regulator of retinal neural progenitor competence

21 January 2018

1 reference

Mutations in SOX2 cause anophthalmia

21 January 2018

1 reference

SOX2 anophthalmia syndrome.

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1159/000114856

1 reference

18 August 2017

1 reference

PubMed ID

18259104