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

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

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scholarly article

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Europe PubMed Central

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)

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Europe PubMed Central

30 July 2017

1

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Slimane Allali

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Europe PubMed Central

30 July 2017

Claire Nihoul-Fékété

10

object named as

Claire Nihoul-Fékété

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Europe PubMed Central

30 July 2017

Kenneth McElreavey

12

object named as

Ken McElreavey

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13

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Anu Bashamboo

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Europe PubMed Central

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3

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Raja Brauner

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30 July 2017

Christine Trivin

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Christine Trivin

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30 July 2017

Diana Lourenço

4

object named as

Diana Lourenço

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30 July 2017

8

object named as

Henri Lottmann

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Stephen Lortat-Jacob

9

object named as

Stephen Lortat-Jacob

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30 July 2017

author name string

Jean-Baptiste Muller

2

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30 July 2017

Radia Boudjenah

5

1 reference

Europe PubMed Central

30 July 2017

Vasiliki Karageorgou

6

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30 July 2017

Olivier De Dreuzy

11

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30 July 2017

language of work or name

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publication date

20 October 2011

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30 July 2017

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Europe PubMed Central

30 July 2017

6

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30 July 2017

10

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30 July 2017

e24117

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30 July 2017

copyright license

Creative Commons Attribution 4.0 International

20 October 2011

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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

30 July 2017

2011PLoSO...624117A

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1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

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