Identification of a novel mutation in DAX1/NR0B1A gene in two siblings with severe clinical presentation of adrenal hypoplasia congenita (Q43247398)

17 November 2017

Identification of a novel mutation in DAX1/NR0B1A gene in two siblings with severe clinical presentation of adrenal hypoplasia congenita (English)

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17 November 2017

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Rafael Machado Mantovani

1

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17 November 2017

Isabela Leite Pezzuti

2

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17 November 2017

Vera Maria Alves Dias

3

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17 November 2017

Ivani Novato Silva

4

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17 November 2017

1 August 2009

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Arquivos Brasileiros de Endocrinologia e Metabologia

17 November 2017

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17 November 2017

53

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17 November 2017

6

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17 November 2017

771-776

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Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience

17 November 2017

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

Genomic analysis of the nuclear receptor family: new insights into structure, regulation, and evolution from the rat genome

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

A new DAX-1 mutation in a family with a case of neonatal adrenal insufficiency and a sibling with adrenal hypoplasia and sudden death at 3 years of age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

Phenotypic spectrum of mutations in DAX-1 and SF-1

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

A novel single base deletion at codon 434 (1301delT) of the DAX1 gene associated with prepubertal testis enlargement

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

DAX1 origin, function, and novel role

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

Molecular mechanisms of DAX1 action

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

DAX1 mutations map to putative structural domains in a deduced three-dimensional model

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

DAX1: Increasing complexity in the roles of this novel nuclear receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302009000600013

10.1590/S0004-27302009000600013

21 January 2018

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DOI

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17 November 2017

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