(Q36732947)

English

A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development

scientific article published on April 2013

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development (English)

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

1 reference

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inferred from title

John C. Achermann

object named as

John C Achermann

4

0 references

object named as

David M Cowley

6

0 references

Andrew M Cotterill

10

object named as

Andrew M Cotterill

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

author name string

Joyce Y Wu

1

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Ivan N McGown

2

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Lin Lin

3

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Mark Harris

5

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Salim Aftimos

7

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Kristen A Neville

8

1 reference

Europe PubMed Central

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16 August 2017

Catherine S Choong

9

1 reference

Europe PubMed Central

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16 August 2017

publication date

1 April 2013

1 reference

Europe PubMed Central

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16 August 2017

Clinical Endocrinology

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Europe PubMed Central

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16 August 2017

78

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

4

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

545-550

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

30 September 2017

Steroidogenic factor-1 (SF-1, NR5A1) and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

30 September 2017

Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

30 September 2017

Update--steroidogenic factor 1 (SF-1, NR5A1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

30 September 2017

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

30 September 2017

Mutations in NR5A1 associated with ovarian insufficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

30 September 2017

Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

30 September 2017

Age-specific changes in sex steroid biosynthesis and sex development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

30 September 2017

Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

30 September 2017

Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

30 September 2017

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

30 September 2017

Androgen resistance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

30 September 2017

Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

30 September 2017

Clinical and biological assessments of the undervirilized male

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

30 September 2017

AR suppresses transcription of the LHbeta subunit by interacting with steroidogenic factor-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

30 September 2017

Male pseudohermaphroditism due to inactivating luteinizing hormone receptor mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

30 September 2017

Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

30 September 2017

17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

30 September 2017

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

30 September 2017

Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

5 September 2018

Pubertal androgenization and gonadal histology in two 46,XY adolescents with NR5A1 mutations and predominantly female phenotype at birth.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

5 September 2018

A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

5 September 2018

Molecular analysis of the AR and SRD5A2 genes in patients with 46,XY disorders of sex development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

5 September 2018

Androgen receptor genotyping in a large Australasian cohort with androgen insensitivity syndrome; identification of four novel mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

5 September 2018

Functional characterization of a new human Ad4BP/SF-1 variation, G146A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

5 September 2018

Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3613751

5 September 2018

A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/22909003

12 December 2020

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inferred from PubMed ID database lookup

Identifiers

10.1111/CEN.12012

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

ResearchGate publication ID

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