HESX1 and Septo-Optic Dysplasia (Q34158374)

31 July 2017

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title

HESX1 and Septo-Optic Dysplasia (English)

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31 July 2017

author name string

Mehul Tulsidas Dattani

series ordinal

1

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31 July 2017

Iain Caf Robinson

series ordinal

2

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31 July 2017

publication date

1 December 2002

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Reviews in Endocrine and Metabolic Disorders

31 July 2017

published in

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31 July 2017

volume

3

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31 July 2017

issue

4

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31 July 2017

page(s)

289-300

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Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

31 July 2017

cites work

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Height and weight achievement in cleft lip and palate

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Neuroradiological features of patients with optic nerve hypoplasia

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Signaling mechanisms in pituitary morphogenesis and cell fate determination

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Septo-optic dysplasia: developmental or acquired abnormality? A case report

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

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Holoprosencephaly and septo-optic dysplasia.

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Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum

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Axis duplication and anterior identity in the mouse embryo.

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An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

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The fate map of the cephalic neural primordium at the presomitic to the 3-somite stage in the avian embryo

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Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

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12 December 2020

Regionalization of the prosencephalic neural plate.

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12 December 2020

Specification of pituitary cell lineages by the LIM homeobox gene Lhx3

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Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

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12 December 2020

Septo-optic Dysplasia

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12 December 2020

Puberty in the syndrome of septo-optic dysplasia

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12 December 2020

Syndrome of septo-optic-pituitary dysplasia: the clinical spectrum

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Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

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

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12 December 2020

Formation of Rathke's pouch requires dual induction from the diencephalon

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The endocrine spectrum of septo-optic dysplasia

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Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

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Septo-optic dysplasia and growth hormone deficiency: accelerated pubertal maturation during GH therapy

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High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA

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Early evolutionary origin of major homeodomain sequence classes

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

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12 December 2020

Hypopituitarism and septooptic "dysplasia" in first cousins

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12 December 2020

Septo-optic dysplasia in two siblings

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12 December 2020

A human MSX1 homeodomain missense mutation causes selective tooth agenesis

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12 December 2020

Optic nerve hypoplasia: septo-optic-pituitary dysplasia syndrome

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12 December 2020

Growth hormone deficiency of hypothalamic origin in septo-optic dysplasia

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12 December 2020

Septo-optic dysplasia (SOD) or DeMorsier syndrome

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12 December 2020

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

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12 December 2020

Prevalence of growth hormone deficiency in children with cleft lip or palate

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

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12 December 2020

[Studies on malformation of cranio-encephalic sutures. III. Agenesis of the septum lucidum with malformation of the optic tract]

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Hypoplastic optic nerves and pituitary dysfunction. A spectrum of anatomical and endocrine abnormalities

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Axis development and early asymmetry in mammals

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

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A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency

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12 December 2020

Mapping of the presumptive brain regions in the neural plate of Xenopus laevis

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The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary

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Midline cerebral dysgenesis, dysfunction of the hypothalamic-pituitary axis, and fetal alcohol effects

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12 December 2020

A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family

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12 December 2020

Crystal structure of an engrailed homeodomain-DNA complex at 2.8 A resolution: a framework for understanding homeodomain-DNA interactions

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12 December 2020

Multistep signaling requirements for pituitary organogenesis in vivo

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12 December 2020

Multistep control of pituitary organogenesis

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12 December 2020

In situ hybridization analysis of anterior pituitary hormone gene expression during fetal mouse development

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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

Homeobox genes and connective tissue patterning

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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

Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia

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12 December 2020

Mutations in PROP1 cause familial combined pituitary hormone deficiency

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12 December 2020

Endocrine disorders in septo-optic dysplasia (De Morsier syndrome)--evaluation and follow up of 18 patients

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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

P-OTX: a PIT-1-interacting homeodomain factor expressed during anterior pituitary gland development

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12 December 2020

Pituitary cell phenotypes involve cell-specific Pit-1 mRNA translation and synergistic interactions with other classes of transcription factors

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12 December 2020

Sexual precocity in association with septo-optic dysplasia and hypothalamic hypopituitarism

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12 December 2020

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

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12 December 2020

Hypothalamic-pituitary function in children with optic nerve hypoplasia

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12 December 2020

Requirement for Lim1 in head-organizer function

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12 December 2020

Microphthalmia with single central incisor and hypopituitarism

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12 December 2020

Structure of a HoxB1-Pbx1 heterodimer bound to DNA: role of the hexapeptide and a fourth homeodomain helix in complex formation

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12 December 2020

A targeted mouse Otx2 mutation leads to severe defects in gastrulation and formation of axial mesoderm and to deletion of rostral brain

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12 December 2020

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

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12 December 2020

Septo-optic dysplasia and pituitary dwarfism

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12 December 2020

Structural determinants within Pbx1 that mediate cooperative DNA binding with pentapeptide-containing Hox proteins: proposal for a model of a Pbx1-Hox-DNA complex

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12 December 2020

Optic nerve hypoplasia: associations and management

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12 December 2020

Neuropathology of "septo-optic dysplasia" (de Morsier syndrome) with immunohistochemical studies of the hypothalamus and pituitary gland

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12 December 2020

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

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12 December 2020

Expression pattern of the murine LIM class homeobox gene Lhx3 in subsets of neural and neuroendocrine tissues

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12 December 2020

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

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12 December 2020

The nuclear receptor steroidogenic factor 1 acts at multiple levels of the reproductive axis

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12 December 2020

Ptx1, a bicoid-related homeo box transcription factor involved in transcription of the pro-opiomelanocortin gene

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12 December 2020

Evidence for possible Mendelian inheritance of septo-optic dysplasia.

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12 December 2020

Hypothalamic defects in two adult patients with septo-optic dysplasia

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12 December 2020

P-Lim, a LIM homeodomain factor, is expressed during pituitary organ and cell commitment and synergizes with Pit-1.

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12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1023/A:1020945406356

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Dimensions Publication ID

31 July 2017

1046612751

0 references

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