Hypopituitarism oddities: congenital causes (Q31141847)

29 June 2017

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title

Hypopituitarism oddities: congenital causes (English)

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2

Mehul T Dattani

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1

Daniel Kelberman

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publication date

10 December 2007

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volume

68 Suppl 5

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page(s)

138-144

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Signaling and transcriptional mechanisms in pituitary development

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cites work

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Multipotent cell lineages in early mouse development depend on SOX2 function

21 January 2018

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Mutations in SOX2 cause anophthalmia

21 January 2018

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SOX2 anophthalmia syndrome.

21 January 2018

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Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

21 January 2018

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

21 January 2018

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

21 January 2018

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Specification of pituitary cell lineages by the LIM homeobox gene Lhx3

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Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

21 January 2018

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Multistep control of pituitary organogenesis

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Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.

21 January 2018

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The Ames dwarf gene, df, is required early in pituitary ontogeny for the extinction of Rpx transcription and initiation of lineage-specific cell proliferation

21 January 2018

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Mutations in PROP1 cause familial combined pituitary hormone deficiency

21 January 2018

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"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency

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The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency

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A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty

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Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion

21 January 2018

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Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene

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Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene

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Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1.

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Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene

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Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.

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Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia

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Identifiers

DOI

10.1159/000110610

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29 June 2017

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