(Q53447605)

14 May 2018

title

Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia. (English)

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14 May 2018

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G Corneli

1

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14 May 2018

D Vivenza

2

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14 May 2018

F Prodam

3

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14 May 2018

G Di Dio

4

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14 May 2018

A Vottero

5

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14 May 2018

A Rapa

6

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14 May 2018

S Bellone

7

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14 May 2018

S Bernasconi

8

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14 May 2018

G Bona

9

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14 May 2018

publication date

1 August 2008

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14 May 2018

Journal of Endocrinological Investigation

published in

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14 May 2018

volume

31

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14 May 2018

issue

8

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14 May 2018

page(s)

689-693

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14 May 2018

https://scigraph.springernature.com/pub.10.1007/bf03346416

exact match

0 references

cites work

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

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HESX1 and Septo-Optic Dysplasia

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FBF03346416

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

https://api.crossref.org/works/10.1007%2FBF03346416

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03346416

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03346416

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

https://api.crossref.org/works/10.1007%2FBF03346416

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FBF03346416

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism

21 January 2018

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A simple salting out procedure for extracting DNA from human nucleated cells

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Update on cryptorchidism: endocrine, environmental and therapeutic aspects

21 January 2018

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Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe.

21 January 2018

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12 December 2020

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

1 reference

12 December 2020

Multistep signaling and transcriptional requirements for pituitary organogenesis in vivo

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12 December 2020

Rpx: a novel anterior-restricted homeobox gene progressively activated in the prechordal plate, anterior neural plate and Rathke's pouch of the mouse embryo.

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12 December 2020

Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders

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12 December 2020

A conserved region of engrailed, shared among all en-, gsc-, Nk1-, Nk2- and msh-class homeoproteins, mediates active transcriptional repression in vivo

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12 December 2020

Panhypopituitarism: genetic versus acquired etiological factors

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12 December 2020

Identifiers

DOI

10.1007/BF03346416

1 reference

14 May 2018

1 reference

14 May 2018