(Q36214845)

12 August 2017

1 reference

title

Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? (English)

1 reference

growth hormone deficiency

12 August 2017

1 reference

1

Mehul T Dattani

1 reference

12 August 2017

1 August 2005

1 reference

12 August 2017

Clinical Endocrinology

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12 August 2017

63

1 reference

12 August 2017

2

1 reference

12 August 2017

121-130

1 reference

Causes of short stature. A community study of children in Newcastle upon Tyne.

12 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

The molecular basis for developmental disorders of the pituitary gland in man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Molecular basis of combined pituitary hormone deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

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

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Sequence, genomic organization, and expression of the novel homeobox gene Hesx1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Anterior primitive endoderm may be responsible for patterning the anterior neural plate in the mouse embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Optic nerve hypoplasia. Clinical significance of associated central nervous system abnormalities on magnetic resonance imaging.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Endocrine status in patients with optic nerve hypoplasia: relationship to midline central nervous system abnormalities and appearance of the hypothalamic-pituitary axis on magnetic resonance imaging.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Why is the retention of gonadotrophin secretion common in children with panhypopituitarism due to septo-optic dysplasia?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

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/10.1111%2FJ.1365-2265.2005.02289.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Multistep control of pituitary organogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Pituitary development: regulatory codes in mammalian organogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Mutations in PROP1 cause familial combined pituitary hormone deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

POU domain factors in the neuroendocrine system: lessons from developmental biology provide insights into human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Transcriptional mechanisms in anterior pituitary cell differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

DNase I-hypersensitive sites I and II of the human growth hormone locus control region are a major developmental activator of somatotrope gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Pit-1 binding sites at the somatotrope-specific DNase I hypersensitive sites I, II of the human growth hormone locus control region are essential for in vivo hGH-N gene activation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Specification of unique Pit-1 activity in the hGH locus control region

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

The molecular genetics of growth hormone deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

Molecular and cellular basis of isolated dominant-negative growth hormone deficiency, IGHD type II: insights on the secretory pathway of peptide hormones.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2005.02289.X

10.1111/J.1365-2265.2005.02289.X

21 January 2018

Identifiers

DOI

1 reference

12 August 2017

1 reference

PubMed ID

16060904