Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly (Q43536332)

24 November 2017

title

Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly (English)

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Berenice Bilharinho Mendonça

24 November 2017

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7

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24 November 2017

Fernanda A Correa

6

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Luciani Renata Carvalho

object named as

Luciani R S Carvalho

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Alexander A L Jorge

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Alexander A L Jorge

2

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author name string

Marcela M França

1

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24 November 2017

Everlayny F Costalonga

4

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24 November 2017

Aline P Otto

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24 November 2017

Ivo J P Arnhold

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24 November 2017

publication date

1 April 2013

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24 November 2017

published in

Clinical Endocrinology

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24 November 2017

volume

78

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24 November 2017

issue

4

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24 November 2017

page(s)

551-557

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Molecular physiology of pituitary development: signaling and transcriptional networks

24 November 2017

cites work

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Genetic regulation of pituitary gland development in human and mouse

21 January 2018

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Genetic forms of hypopituitarism and their manifestation in the neonatal period

21 January 2018

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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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A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency

21 January 2018

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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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Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes

21 January 2018

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Expression of three mouse homologs of the Drosophila segment polarity gene cubitus interruptus, Gli, Gli-2, and Gli-3, in ectoderm- and mesoderm-derived tissues suggests multiple roles during postimplantation development

21 January 2018

1 reference

Direct and indirect requirements of Shh/Gli signaling in early pituitary development

21 January 2018

1 reference

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

21 January 2018

1 reference

A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2

21 January 2018

1 reference

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

21 January 2018

1 reference

GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?

21 January 2018

1 reference

Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

21 January 2018

1 reference

Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. II

21 January 2018

1 reference

GH values after clonidine stimulation measured by immunofluorometric assay in normal prepubertal children and GH-deficient patients

21 January 2018

1 reference

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

21 January 2018

1 reference

A map of human genome variation from population-scale sequencing

21 January 2018

1 reference

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

21 January 2018

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Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

21 January 2018

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The role of sonic hedgehog-Gli2 pathway in the masculinization of external genitalia

21 January 2018

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Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.

21 January 2018

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Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.

21 January 2018

1 reference

Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).

21 January 2018

1 reference

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism

21 January 2018

1 reference

Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.

21 January 2018

1 reference

Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.

21 January 2018

1 reference

PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency

21 January 2018

1 reference

Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CEN.12044

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24 November 2017

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