Genetics of septo-optic dysplasia (Q34640923)

3 August 2017

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title

Genetics of septo-optic dysplasia (English)

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3 August 2017

1

Daniel Kelberman

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3 August 2017

author name string

Mehul Tulsidas Dattani

series ordinal

2

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3 August 2017

publication date

1 January 2007

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3 August 2017

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3 August 2017

volume

10

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3 August 2017

issue

4

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3 August 2017

page(s)

393-407

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Septo-optic dysplasia plus: a spectrum of malformations of cortical development

3 August 2017

cites work

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https://api.crossref.org/works/10.1007%2FS11102-007-0055-5

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/10.1007%2FS11102-007-0055-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11102-007-0055-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11102-007-0055-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11102-007-0055-5

Neuroradiological features of patients with optic nerve hypoplasia

21 January 2018

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

Sox2 is required for sensory organ development in the mammalian inner ear

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12 December 2020

Integrated FGF and BMP signaling controls the progression of progenitor cell differentiation and the emergence of pattern in the embryonic anterior pituitary

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12 December 2020

Pax-6, a murine paired box gene, is expressed in the developing CNS

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12 December 2020

Signaling mechanisms in pituitary morphogenesis and cell fate determination

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Multipotent cell lineages in early mouse development depend on SOX2 function

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12 December 2020

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

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12 December 2020

Holoprosencephaly and septo-optic dysplasia.

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12 December 2020

The cDNA sequence and chromosomal location of the human SOX2 gene

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12 December 2020

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

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12 December 2020

Sox2 regulatory sequences direct expression of a (beta)-geo transgene to telencephalic neural stem cells and precursors of the mouse embryo, revealing regionalization of gene expression in CNS stem cells

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12 December 2020

A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes

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12 December 2020

Axis duplication and anterior identity in the mouse embryo.

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12 December 2020

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

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12 December 2020

Diabetes insipidus with impaired osmotic regulation in septo-optic dysplasia and agenesis of the corpus callosum

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12 December 2020

Signaling and transcriptional mechanisms in pituitary development

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12 December 2020

Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia

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12 December 2020

Septo-optic dysplasia associated with polyendocrine dysfunction

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12 December 2020

Geographical Distribution of Optic Nerve Hypoplasia and Septo-optic Dysplasia in Northwest England

1 reference

12 December 2020

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

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12 December 2020

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

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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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12 December 2020

Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes.

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12 December 2020

Six3, a murine homologue of the sine oculis gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development.

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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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12 December 2020

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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12 December 2020

The endocrine spectrum of septo-optic dysplasia

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12 December 2020

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

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12 December 2020

SOX3 is an X-linked gene related to SRY

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12 December 2020

Hypopituitarism and septooptic "dysplasia" in first cousins

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12 December 2020

Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination

1 reference

12 December 2020

Septo-optic dysplasia in two siblings

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12 December 2020

Optic nerve hypoplasia: Risk factors and epidemiology.

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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

Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings

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12 December 2020

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism

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12 December 2020

Septo-optic dysplasia (SOD) or DeMorsier syndrome

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12 December 2020

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

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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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12 December 2020

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

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12 December 2020

Axis development and early asymmetry in mammals

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12 December 2020

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12 December 2020

From head to toes: the multiple facets of Sox proteins

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12 December 2020

WNT5A signaling affects pituitary gland shape

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12 December 2020

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

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12 December 2020

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

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12 December 2020

A role for SOX1 in neural determination

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12 December 2020

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

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12 December 2020

SOX genes and neural progenitor identity

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12 December 2020

Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism

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12 December 2020

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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12 December 2020

X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility

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12 December 2020

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

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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

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

1 reference

12 December 2020

Sox3 Is Required for Gonadal Function, but Not Sex Determination, in Males and Females

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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

SOX2 anophthalmia syndrome.

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12 December 2020

X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.

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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

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

The DNA-binding specificity of SOX9 and other SOX proteins.

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12 December 2020

Early development of the pituitary gland: induction and shaping of Rathke's pouch.

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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

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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12 December 2020

SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.

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12 December 2020

Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities

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12 December 2020

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

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12 December 2020

Vertebrate neurogenesis is counteracted by Sox1-3 activity

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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

Mutations in SOX2 cause anophthalmia

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12 December 2020

Septo-optic dysplasia and pituitary dwarfism

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12 December 2020

A conserved family of genes related to the testis determining gene, SRY

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12 December 2020

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

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12 December 2020

Sox2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brain

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12 December 2020

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

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12 December 2020

Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene

1 reference

12 December 2020

Septo-optic dysplasia with infantile spasms

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12 December 2020

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

1 reference

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

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

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12 December 2020

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

1 reference

12 December 2020

A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2

1 reference

12 December 2020

Sox genes find their feet

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12 December 2020

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions

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12 December 2020

Regulation of Wnt signaling by Sox proteins: XSox17 alpha/beta and XSox3 physically interact with beta-catenin

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12 December 2020

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

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12 December 2020

Involvement of Sox1, 2 and 3 in the early and subsequent molecular events of lens induction.

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12 December 2020

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.

1 reference

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

Identification of members of the Wnt signaling pathway in the embryonic pituitary gland

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12 December 2020

10.1007/S11102-007-0055-5

Identifiers

DOI

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3 August 2017

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