Disorders of sex development: new genes, new concepts (Q34321287)

1 August 2017

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title

Disorders of sex development: new genes, new concepts (English)

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1 August 2017

Makoto Ono

1

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PubMed ID

23296159

1 August 2017

Vincent R Harley

series ordinal

2

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1 August 2017

18 December 2012

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Nature Reviews Endocrinology

1 August 2017

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1 August 2017

9

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1 August 2017

79-91

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1 August 2017

2

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https://scigraph.springernature.com/pub.10.1038/nrendo.2012.235

1 August 2017

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cites work

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We used to call them hermaphrodites

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Impact of the consensus statement and the new DSD classification system

21 January 2018

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Control of sex development

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Normal male sexual differentiation and aetiology of disorders of sex development.

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Mammalian sex determination—insights from humans and mice

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Balancing the bipotential gonad between alternative organ fates: a new perspective on an old problem

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Sex determination and SRY: down to a wink and a nudge?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Sex determination and gonadal development in mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Characterisation of urogenital ridge gene expression in the human embryonal carcinoma cell line NT2/D1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Expression of a candidate sex-determining gene during mouse testis differentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Sertoli cell differentiation is induced both cell-autonomously and through prostaglandin signaling during mammalian sex determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

The human sex-determining gene SRY is a direct target of WT1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Steroidogenic factor-1 contributes to the cyclic-adenosine monophosphate down-regulation of human SRY gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Male-to-female sex reversal in M33 mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Cbx2, a polycomb group gene, is required for Sry gene expression in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Gadd45γ and Map3k4 interactions regulate mouse testis determination via p38 MAPK-mediated control of Sry expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

GADD45G functions in male sex determination by promoting p38 signaling and Sry expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Testis determination requires insulin receptor family function in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

The LIM homeobox gene Lhx9 is essential for mouse gonad formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Sox9 expression during gonadal development implies a conserved role for the gene in testis differentiation in mammals and birds

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Homozygous inactivation of Sox9 causes complete XY sex reversal in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

The PGD2 pathway, independently of FGF9, amplifies SOX9 activity in Sertoli cells during male sexual differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Testis development requires the repression of Wnt4 by Fgf signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Identification of SOX9 interaction sites in the genome of chondrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Activation of beta-catenin signaling by Rspo1 controls differentiation of the mammalian ovary.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

R-spondin1 plays an essential role in ovarian development through positively regulating Wnt-4 signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Follistatin operates downstream of Wnt4 in mammalian ovary organogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

FOXL2 and BMP2 act cooperatively to regulate follistatin gene expression during ovarian development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

FoxL2 and Smad3 coordinately regulate follistatin gene transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Fgf9 and Wnt4 act as antagonistic signals to regulate mammalian sex determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Sex-specific roles of beta-catenin in mouse gonadal development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Stabilization of beta-catenin in XY gonads causes male-to-female sex-reversal

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Wnt signaling in ovarian development inhibits Sf1 activation of Sox9 via the Tesco enhancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

XY Sox9 embryonic loss-of-function mouse mutants show complete sex reversal and produce partially fertile XY oocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

DMRT1 prevents female reprogramming in the postnatal mammalian testis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Human ARX gene: genomic characterization and expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Desert hedgehog (Dhh) gene is required in the mouse testis for formation of adult-type Leydig cells and normal development of peritubular cells and seminiferous tubules

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Schwann cell-derived Desert hedgehog controls the development of peripheral nerve sheaths

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Sex-Determining Gene(s) on Distal 9p: Clinical and Molecular Studies in Six Cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Dmrt1, a gene related to worm and fly sexual regulators, is required for mammalian testis differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Loss-of-function mutation in GATA4 causes anomalies of human testicular development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

GATA4 transcription factor is required for ventral morphogenesis and heart tube formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

CXorf6 is a causative gene for hypospadias

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Mamld1 knockdown reduces testosterone production and Cyp17a1 expression in mouse Leydig tumor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Mamld1 deficiency significantly reduces mRNA expression levels of multiple genes expressed in mouse fetal Leydig cells but permits normal genital and reproductive development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Minor abnormalities of testis development in mice lacking the gene encoding the MAPK signalling component, MAP3K1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Loss of mitogen-activated protein kinase kinase kinase 4 (MAP3K4) reveals a requirement for MAPK signalling in mouse sex determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Dax1 antagonizes Sry action in mammalian sex determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Dax1 is required for testis determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Sex determination: a 'window' of DAX1 activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Haploinsufficiency of steroidogenic factor-1 in mice disrupts adrenal development leading to an impaired stress response.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

A clinical and genetic study of campomelic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Essential role of Sox9 in the pathway that controls formation of cardiac valves and septa

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Functional analysis of Sox8 and Sox9 during sex determination in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

A SOX9 duplication and familial 46,XX developmental testicular disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

XX males SRY negative: a confirmed cause of infertility

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box 9].

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Genetic evidence equating SRY and the testis-determining factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

DNA Binding Activity of Recombinant SRY from Normal Males and XY Females

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Inhibition of SRY-calmodulin complex formation induces ectopic expression of ovarian cell markers in developing XY gonads.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Wnt4 overexpression disrupts normal testicular vasculature and inhibits testosterone synthesis by repressing steroidogenic factor 1/beta-catenin synergy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

The candidate Wilms' tumour gene is involved in genitourinary development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

WT-1 is required for early kidney development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Donor splice-site mutations in WT1 are responsible for Frasier syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Targeted ablation of the WW domain-containing oxidoreductase tumor suppressor leads to impaired steroidogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

WWOX hypomorphic mice display a higher incidence of B-cell lymphomas and develop testicular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Cell-specific knockout of steroidogenic factor 1 reveals its essential roles in gonadal function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Mutations in NR5A1 associated with ovarian insufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

R-spondin1 is essential in sex determination, skin differentiation and malignancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Global gene expression in the human fetal testis and ovary

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Identification of SOX3 as an XX male sex reversal gene in mice and humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Sox9 induces testis development in XX transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Autosomal XX sex reversal caused by duplication of SOX9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Male development of chromosomally female mice transgenic for Sry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Female development in mammals is regulated by Wnt-4 signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Gene expression during sex determination reveals a robust female genetic program at the onset of ovarian development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Expression profiling of purified mouse gonadal somatic cells during the critical time window of sex determination reveals novel candidate genes for human sexual dysgenesis syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Managing incidental findings in human subjects research: analysis and recommendations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Specific-locus test shows ethylnitrosourea to be the most potent mutagen in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

ENU-based gene-driven mutagenesis in the mouse: a next-generation gene-targeting system

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

ENU mutagenesis in mice identifies candidate genes for hypogonadism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Direct reprogramming of fibroblasts into embryonic Sertoli-like cells by defined factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Children with disorders of sex development: A qualitative study of early parental experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Gonadal development and tumor formation at the crossroads of male and female sex determination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

21 January 2018

Gonadal tumours and DSD.

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

The European disorder of sex development registry: a virtual research environment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Ethical principles for the management of infants with disorders of sex development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Surgical options in disorders of sex development (dsd) with ambiguous genitalia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Ethical principles and recommendations for the medical management of differences of sex development (DSD)/intersex in children and adolescents

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Disorders of sex development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Spatially dynamic expression ofSry in mouse genital ridges

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Excess DAX1 Leads to XY Ovotesticular Disorder of Sex Development (DSD) in Mice by Inhibiting Steroidogenic Factor-1 (SF1) Activation of the Testis Enhancer ofSRY-box-9(Sox9)

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Loss of Fgfr2 leads to partial XY sex reversal

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2012.235

Defects of urogenital development in mice lacking Emx2.

31 March 2020

1 reference

12 December 2020

Gonadal differentiation, sex determination and normal Sry expression in mice require direct interaction between transcription partners GATA4 and FOG2.

1 reference

12 December 2020

Sex-determining gene(s) on distal 9p: clinical and molecular studies in six cases

1 reference

12 December 2020

CITED2 mutations potentially cause idiopathic premature ovarian failure.

1 reference

12 December 2020

A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome

1 reference

12 December 2020

Expression of Sry, the mouse sex determining gene.

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRENDO.2012.235

1 reference

1 August 2017

1 reference

PubMed ID

23296159