(Q46496836)

English

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

scientific article published on 8 July 2008

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/18607630

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

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/18607630

author name string

Fan Yang

1

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/18607630

Keiichi Hanaki

2

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/18607630

Tomoe Kinoshita

3

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/18607630

Yuki Kawashima

4

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/18607630

Jun-ichi Nagaishi

5

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/18607630

Susumu Kanzaki

6

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/18607630

publication date

8 July 2008

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/18607630

European Journal of Pediatrics

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/18607630

168

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/18607630

3

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/18607630

329-331

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/18607630

https://scigraph.springernature.com/pub.10.1007/s00431-008-0779-x

0 references

DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita

1 reference

https://api.crossref.org/works/10.1007%2FS00431-008-0779-X

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18607630

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females

1 reference

https://pubmed.ncbi.nlm.nih.gov/18607630

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18607630

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prepubertal diagnosis of X-linked congenital adrenal hypoplasia presenting after infancy

1 reference

https://pubmed.ncbi.nlm.nih.gov/18607630

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita

1 reference

https://pubmed.ncbi.nlm.nih.gov/18607630

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita

1 reference

https://pubmed.ncbi.nlm.nih.gov/18607630

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18607630

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18607630

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18607630

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00431-008-0779-X

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/18607630

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/18607630

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