(Q46882090)

English

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.

scientific article published in September 2007

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/18038713

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. (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/18038713

maternal health

0 references

1 reference

based on heuristic

inferred from title

adrenal insufficiency

1 reference

based on heuristic

inferred from title

Verónica Mericq

1

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/18038713

author name string

Marta Ciaccio

2

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/18038713

Roxana Marino

3

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/18038713

Juan Javier Lamoglia

4

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/18038713

Gisella Viterbo

5

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/18038713

Marco A Rivarola

6

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/18038713

Alicia Belgorosky

7

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/18038713

publication date

1 September 2007

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/18038713

Journal of Pediatric Endocrinology and Metabolism

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/18038713

20

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/18038713

9

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/18038713

1039-1043

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/18038713

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

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.9.1039

21 January 2018

Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene.

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.9.1039

21 January 2018

Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation.

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.9.1039

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.9.1039

21 January 2018

Minireview: transcriptional regulation of adrenocortical development

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.9.1039

21 January 2018

X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypes

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.9.1039

21 January 2018

Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.9.1039

21 January 2018

Familial congenital adrenal hypoplasia

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.9.1039

21 January 2018

Aromatase (Cyp19) expression is up-regulated by targeted disruption of Dax1.

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.9.1039

21 January 2018

Adolescents with childhood-onset GHD: how do we get them to peak bone mass?

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.9.1039

21 January 2018

Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.9.1039

21 January 2018

Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.9.1039

21 January 2018

Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita.

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.9.1039

21 January 2018

Identifiers

10.1515/JPEM.2007.20.9.1039

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/18038713

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/18038713

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