Septo-optic dysplasia - novel insights into the aetiology. - Wikidata - awgldk - TriplyDB

Septo-optic dysplasia - novel insights into the aetiology.

Septo-optic dysplasia - novel insights into the aetiology.

http://www.wikidata.org/entity/Q37079660

about

Congenital anomalies of the optic nerve Combined pituitary hormone deficiency: current and future status.Outcome of fetuses with cerebral ventriculomegaly and septum pellucidum leaflet abnormalities.Acceleration of puberty during growth hormone therapy in a child with septo-optic dysplasia.Septo-optic dysplasia Bilateral anophthalmia with septo-optic dysplasia Disruption of SoxB1-dependent Sonic hedgehog expression in the hypothalamus causes septo-optic dysplasia.Septo-optic dysplasia plus: a case report.Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations.Septo-Optic Dysplasia in a Newborn Presenting with Bilateral Dilated and Fixed Pupils.Macular optical coherence tomography in patients with unilateral optic nerve hypoplasia Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus.The role of homeodomain transcription factors in heritable pituitary disease.Septo-optic dysplasia with olfactory tract hypoplasia.Cholestasis caused by panhypopituitarism and acquired cytomegalovirus infection in a 2-month-old male infant: A case report.Septo-optic dysplasia: fitting the pieces together.Septo-optic Dysplasia Complex with Omphalocele, Pre-maxillary Agenesis and Encephalocele Ophthalmic manifestations of endocrine disorders-endocrinology and the eye.Septo-optic dysplasia in childhood: the neurological, cognitive and neuro-ophthalmological perspective.Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression.

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P2860

Septo-optic dysplasia - novel insights into the aetiology.

http://www.wikidata.org/entity/Q37079660

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 06 February 2008

@en

vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Septo-optic dysplasia - novel insights into the aetiology.

@en

Septo-optic dysplasia - novel insights into the aetiology.

@nl

type

label

Septo-optic dysplasia - novel insights into the aetiology.

@en

Septo-optic dysplasia - novel insights into the aetiology.

@nl

prefLabel

Septo-optic dysplasia - novel insights into the aetiology.

@en

Septo-optic dysplasia - novel insights into the aetiology.

@nl

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Hormone Research

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Septo-optic dysplasia - novel insights into the aetiology.

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Daniel Kelberman

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Mehul Tulsidas Dattani

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P2860

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

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

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

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

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

Vertebrate neurogenesis is counteracted by Sox1-3 activity

Multipotent cell lineages in early mouse development depend on SOX2 function

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

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

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

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257-265

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scholarly article

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10.1159/000114856

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5

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69

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2008-02-06T00:00:00Z

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5593325

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18259104

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