Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias (Q34058239)

From Wikidata

Jump to navigation Jump to search

scientific article

Language	Label	Description	Also known as
English	Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

1

object named as

Slimane Allali

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Claire Nihoul-Fékété

10

object named as

Claire Nihoul-Fékété

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Kenneth McElreavey

12

object named as

Ken McElreavey

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

13

object named as

Anu Bashamboo

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

3

object named as

Raja Brauner

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Christine Trivin

7

object named as

Christine Trivin

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Diana Lourenço

4

object named as

Diana Lourenço

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

8

object named as

Henri Lottmann

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Stephen Lortat-Jacob

9

object named as

Stephen Lortat-Jacob

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

author name string

Jean-Baptiste Muller

2

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Radia Boudjenah

5

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Vasiliki Karageorgou

6

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Olivier De Dreuzy

11

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

language of work or name

0 references

publication date

20 October 2011

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

10

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

e24117

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

copyright license

Creative Commons Attribution 4.0 International

20 October 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

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=3197579

5 July 2018

Genital anomalies in boys and the environment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197579

5 July 2018

Molecular aspects of steroidogenic factor 1 (SF-1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197579

5 July 2018

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=3197579

5 July 2018

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=3197579

5 July 2018

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=3197579

5 July 2018

Endocrine disruptors, genital development, and hypospadias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197579

5 July 2018

Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197579

5 July 2018

Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197579

5 July 2018

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=3197579

5 July 2018

CXorf6 is a causative gene for hypospadias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197579

5 July 2018

Consensus statement on management of intersex disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197579

5 July 2018

Hypospadias: anatomy, etiology, and technique

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197579

5 July 2018

A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197579

5 July 2018

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=3197579

5 July 2018

Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197579

5 July 2018

Serum inhibin B in healthy pubertal and adolescent boys: relation to age, stage of puberty, and follicle-stimulating hormone, luteinizing hormone, testosterone, and estradiol levels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197579

5 July 2018

Mutation of HOXA13 in hand-foot-genital syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197579

5 July 2018

A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197579

5 July 2018

Functional difference between Ad4BP and ELP, and their distributions in steroidogenic tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197579

5 July 2018

A common trans-acting factor, Ad4-binding protein, to the promoters of steroidogenic P-450s

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197579

5 July 2018

Penile size in the newborn infant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197579

5 July 2018

Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0024117

21 January 2018

A mutated form of steroidogenic factor 1 (SF-1 G35E) that causes sex reversal in humans fails to synergize with transcription factor GATA-4.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0024117

21 January 2018

A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0024117

21 January 2018

Genetics of Hypospadias: Are Single-Nucleotide Polymorphisms inSRD5A2,ESR1,ESR2, andATF3Really Associated with the Malformation?

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0024117

21 January 2018

Longitudinal reproductive hormone profiles in infants: peak of inhibin B levels in infant boys exceeds levels in adult men.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197579

28 October 2018

FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0024117

21 January 2018

Mutational study of the MAMLD1-gene in hypospadias

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0024117

21 January 2018

Familial Aggregation of Hypospadias: A Cohort Study

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0024117

21 January 2018

Modulation of endogenous GATA-4 activity reveals its dual contribution to Müllerian inhibiting substance gene transcription in Sertoli cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/22028768

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inhibin B in males with gonadotropin-releasing hormone (GnRH) deficiency: changes in serum concentration after shortterm physiologic GnRH replacement--a clinical research center study

1 reference

https://pubmed.ncbi.nlm.nih.gov/22028768

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evaluation of gonadal function in 107 intersex patients by means of serum antimüllerian hormone measurement

1 reference

https://pubmed.ncbi.nlm.nih.gov/22028768

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0024117

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

2011PLoSO...624117A

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34058239&oldid=1983209697"