(Q51968780)

English

Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency.

scientific article published in October 2007

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scholarly article

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/18157385

Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency. (English)

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/18157385

author name string

Teresa C Vieira

1

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/18157385

Valter T Boldarine

2

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/18157385

Julio Abucham

3

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/18157385

publication date

1 October 2007

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/18157385

Arquivos Brasileiros de Endocrinologia e Metabologia

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/18157385

51

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/18157385

7

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/18157385

1097-1103

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/18157385

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

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

Transcriptional control of precursor proliferation in the early phases of pituitary development

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

Molecular basis of combined pituitary hormone deficiencies

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

LHX3 transcription factor mutations associated with combined pituitary hormone deficiency impair the activation of pituitary target genes

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

Mutations in PROP1 cause familial combined pituitary hormone deficiency

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

Pseudotumor of the pituitary due to PROP-1 deletion

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

Waxing and waning of a pituitary mass in a young woman with combined pituitary hormone deficiency (CPHD) due to a PROP-1 mutation.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

Height of normal pituitary gland as a function of age evaluated by magnetic resonance imaging in children

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

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.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

Diagnostic value of pituitary MRI in differentiation of children with normal growth hormone secretion, isolated growth hormone deficiency and multiple pituitary hormone deficiency.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

Central hypocortisolism as part of combined pituitary hormone deficiency due to mutations of PROP-1 gene

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302007000700012

21 January 2018

Identifiers

10.1590/S0004-27302007000700012

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/18157385

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/18157385

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