(Q29147494)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27490115%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

title

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development (English)

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27490115%20AND%20SRC:MED&resulttype=core&format=json

Nuclear receptor subfamily 5 group A member 1

20 March 2020

main subject

1 reference

GOA release 2020-03-11

sex-determination system

1 reference

ovotesticular disorder of sex development

GOA release 2020-03-11

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27490115%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Toon Rosseel

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27490115%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Frauke Coppieters

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27490115%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Reiner Veitia

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27490115%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Leendert Looijenga

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27490115%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Elfride De Baere

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27490115%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Martine Cools

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27490115%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

author name string

Dorien Baetens

1

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27490115%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Frank Peelman

3

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27490115%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Anne-Laure Todeschini

4

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27490115%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

language of work or name

English

0 references

publication date

4 August 2016

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27490115%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27490115%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27490115%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

page(s)

367-376

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27490115%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27490115%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

20 March 2020

limma

1 reference

22 June 2022

https://europepmc.org/article/PMC/5392598

inferred from PubMed Central ID database lookup

cites work

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Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

21 April 2017

1 reference

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Mutations in NR5A1 associated with ovarian insufficiency

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/GIM.2016.118

Nuclear receptor steroidogenic factor 1 regulates the müllerian inhibiting substance gene: a link to the sex determination cascade

21 April 2017

1 reference

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Mice deficient in the orphan receptor steroidogenic factor 1 lack adrenal glands and gonads but express P450 side-chain-cleavage enzyme in the placenta and have normal embryonic serum levels of corticosteroids

21 April 2017

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21 April 2017

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Haploinsufficiency of SF-1 Causes Female to Male Sex Reversal in Nile Tilapia, Oreochromis niloticus

26 May 2017

1 reference

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3 June 2018

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46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature

3 June 2018

1 reference

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Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

3 June 2018

1 reference

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3 June 2018

1 reference

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FOXL2 is a female sex-determining gene in the goat

3 June 2018

1 reference

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Disorders of sex development: new genes, new concepts

3 June 2018

1 reference

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3 June 2018

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Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

3 June 2018

1 reference

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

3 June 2018

1 reference

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FOXL2 versus SOX9: a lifelong "battle of the sexes".

3 June 2018

1 reference

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3 June 2018

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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

3 June 2018

1 reference

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Antagonism of the testis- and ovary-determining pathways during ovotestis development in mice

3 June 2018

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3 June 2018

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Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence.

3 June 2018

1 reference

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3 June 2018

1 reference

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3 June 2018

1 reference

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3 June 2018

1 reference

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

1 reference

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3 June 2018

1 reference

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21 January 2018

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21 January 2018

1 reference

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21 January 2018

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21 January 2018

1 reference

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21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.118

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.118

Gonadal defects in Cited2-mutant mice indicate a role for SF1 in both testis and ovary differentiation

21 January 2018

1 reference

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Interchromosomal Insertional Translocation at Xq26.3 AltersSOX3Expression in an Individual With XX Male Sex Reversal

21 January 2018

1 reference

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21 January 2018

1 reference

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Familial true hermaphroditism: paternal and maternal transmission of true hermaphroditism (46,XX) and XX maleness in the absence of Y-chromosomal sequences

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27490115

12 December 2020

inferred from PubMed ID database lookup

46,XX sex reversal with partial duplication of chromosome arm 22q

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27490115

12 December 2020

inferred from PubMed ID database lookup

Steroidogenic Factor 1: A Key Determinant of Endocrine Development and Function

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.118

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/GIM.2016.118

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2629496

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27490115%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

20 March 2020

1023905038

0 references

OpenCitations bibliographic resource ID

2629496

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27490115%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

2 references

4 April 2017