Mammalian sex determination—insights from humans and mice (Q27691819)

disorder of sex development, 46,XY

main subject

1 reference

22 April 2019

sex-determination system

1 reference

1 reference

physiological phenomenon

1 reference

20 August 2019

XY gonadal dysgenesis

1 reference

20 August 2019

1 reference

9 October 2019

1 reference

10 October 2019

Eggers S

1

1 reference

Sinclair A

series ordinal

2

1 reference

publication date

January 2012

1 reference

1 January 2012

7 references

13 March 2019

24 March 2019

22 April 2019

20 August 2019

9 October 2019

10 October 2019

5 June 2020

8 references

13 March 2019

24 March 2019

22 April 2019

20 August 2019

9 October 2019

10 October 2019

29 May 2020

20

1 reference

page(s)

215-38

1 reference

issue

1

1 reference

https://scigraph.springernature.com/pub.10.1007/s10577-012-9274-3

exact match

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Mutations in NR5A1 associated with ovarian insufficiency

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Disruption of testis cords by cyclopamine or forskolin reveals independent cellular pathways in testis organogenesis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

A SOX9 duplication and familial 46,XX developmental testicular disorder

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

In the platypus a meiotic chain of ten sex chromosomes shares genes with the bird Z and mammal X chromosomes

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Mutations in SRY and SOX9: testis-determining genes

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Identification of a putative steroidogenic factor-1 response element in the DAX-1 promoter

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Testis cord differentiation after the sex determination stage is independent of Sox9 but fails in the combined absence of Sox9 and Sox8

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Cell type-autonomous and non-autonomous requirements for Dmrt1 in postnatal testis differentiation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Homozygous inactivation of Sox9 causes complete XY sex reversal in mice

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

The transcription factors steroidogenic factor-1 and SOX9 regulate expression of Vanin-1 during mouse testis development

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Follistatin operates downstream of Wnt4 in mammalian ovary organogenesis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Desert Hedgehog/Patched 1 signaling specifies fetal Leydig cell fate in testis organogenesis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Idiopathic weight reduction in mice deficient in the high-mobility-group transcription factor Sox8

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Female development in mammals is regulated by Wnt-4 signalling

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Expression and hormonal regulation of transcription factors GATA-4 and GATA-6 in the mouse ovary

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

WT-1 is required for early kidney development

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Epithelial transformation of metanephric mesenchyme in the developing kidney regulated by Wnt-4

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

DMRT1 prevents female reprogramming in the postnatal mammalian testis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

The evolution of Fox genes and their role in development and disease

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Sox8 is a critical regulator of adult Sertoli cell function and male fertility

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Foxl2 is required for commitment to ovary differentiation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Fgf9 induces proliferation and nuclear localization of FGFR2 in Sertoli precursors during male sex determination

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

SOX8 is expressed during testis differentiation in mice and synergizes with SF1 to activate the Amh promoter in vitro

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Sox9 induces testis development in XX transgenic mice

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

The LIM homeobox gene Lhx9 is essential for mouse gonad formation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

XX males SRY negative: a confirmed cause of infertility

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

New technologies for the identification of novel genetic markers of disorders of sex development (DSD).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

The game plan: cellular and molecular mechanisms of mammalian testis development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Gene dosage effects and transcriptional regulation of early mammalian adrenal cortex development.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

The avian Z-linked gene DMRT1 is required for male sex determination in the chicken

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Long-range regulation at the SOX9 locus in development and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Global gene expression in the human fetal testis and ovary

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

The cerebellin 4 precursor gene is a direct target of SRY and SOX9 in mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Genetics of ovarian differentiation: Rspo1, a major player

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Consensus statement on management of intersex disorders.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Cloning and expression of R-Spondin1 in different vertebrates suggests a conserved role in ovarian development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

A GATA4/WT1 cooperation regulates transcription of genes required for mammalian sex determination and differentiation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Positive regulation of steroidogenic acute regulatory protein gene expression through the interaction between Dlx and GATA-4 for testicular steroidogenesis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Role of the GATA family of transcription factors in endocrine development, function, and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

GATA4 sequence variants in patients with congenital heart disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Fibroblast growth factor receptor 2 regulates proliferation and Sertoli differentiation during male sex determination

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Correct dosage of Fog2 and Gata4 transcription factors is critical for fetal testis development in mice.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Characterization of a recurrent 15q24 microdeletion syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Disruption of friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Wnt4 action in gonadal development and sex determination

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Sex determination: a tale of two Sox genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Mouse Polycomb M33 is required for splenic vascular and adrenal gland formation through regulating Ad4BP/SF1 expression

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

A complex interaction of imprinted and maternal-effect genes modifies sex determination in Odd Sex (Ods) mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Sex determination: a 'window' of DAX1 activity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

A duplicated copy of DMRT1 in the sex-determining region of the Y chromosome of the medaka, Oryzias latipes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

The Wilms tumor suppressor WT1 regulates early gonad development by activation of Sf1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

From brain determination to testis determination: evolution of the mammalian sex-determining gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

A 11.7-kb deletion triggers intersexuality and polledness in goats

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

A developmental study of the Desert hedgehog-null mouse testis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Genetic evidence for a novel gene(s) involved in urogenital development on 10q26.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

The zinc finger-containing transcription factors GATA-4, -5, and -6. Ubiquitously expressed regulators of tissue-specific gene expression.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Function of steroidogenic factor 1 during development and differentiation of the reproductive system

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

A new submicroscopic deletion that refines the 9p region for sex reversal

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

29 September 2017

The battle of the sexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Conservation of a sex-determining gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Autosomal XX sex reversal caused by duplication of SOX9.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

True hermaphroditism with partial duplication of chromosome 22 and without SRY.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Mammalian sex determination: a molecular drama

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Male-to-female sex reversal in M33 mutant mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Transcription factor GATA-4 is expressed in a sexually dimorphic pattern during mouse gonadal development and is a potent activator of the Müllerian inhibiting substance promoter.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Evidence for evolutionary conservation of sex-determining genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Sertoli cell signaling by Desert hedgehog regulates the male germline

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

29 September 2017

Trisomy 22 and intersex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Nuclear localization of the testis determining gene product SRY.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

The erythroid-specific transcription factor Eryf1: a new finger protein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

The role of Sry in mammalian sex determination.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Conserved regulatory modules in the Sox9 testis-specific enhancer predict roles for SOX, TCF/LEF, Forkhead, DMRT, and GATA proteins in vertebrate sex determination

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

SOX9 regulates prostaglandin D synthase gene transcription in vivo to ensure testis development.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

CXorf6 is a causative gene for hypospadias

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Sry requires a CAG repeat domain for male sex determination in Mus musculus.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Transducing Hedgehog: the story so far

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Sex in the 90s: SRY and the switch to the male pathway

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Multiple defects and perinatal death in mice deficient in follistatin

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Male development of chromosomally female mice transgenic for Sry.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

The HMG domain of lymphoid enhancer factor 1 bends DNA and facilitates assembly of functional nucleoprotein structures

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.

2 June 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

The expression of the Wilms' tumour gene, WT1, in the developing mammalian embryo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

A transgenic insertion upstream of sox9 is associated with dominant XX sex reversal in the mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

Mutations inSRY andSOX9: Testis-determining genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

Presumptive pre-Sertoli cells express genes involved in cell proliferation and cell signalling during a critical window in early testis differentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

The partial female to male sex reversal in Wnt-4-deficient females involves induced expression of testosterone biosynthetic genes and testosterone production, and depends on androgen action.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

A novel WT1 gene mutation in a patient with Wilms' tumor and 46, XY gonadal dysgenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

Inventing a sex-specific gene: a conserved role of DMRT1 in teleost fishes plus a recent duplication in the medaka Oryzias latipes resulted in DMY.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

Ovarian development in mice requires the GATA4-FOG2 transcription complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

DMY is a Y-specific DM-domain gene required for male development in the medaka fish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

300 million years of conserved synteny between chicken Z and human chromosome 9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

Absence of mutations involving the LIM homeobox domain gene LHX9 in 46,XY gonadal agenesis and dysgenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

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/10.1007%2FS10577-012-9274-3

Sox10 gain-of-function causes XX sex reversal in mice: implications for human 22q-linked disorders of sex development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

SOX9 is up-regulated by the transient expression of SRY specifically in Sertoli cell precursors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

Developmental defects of the ventromedial hypothalamic nucleus and pituitary gonadotroph in the Ftz-F1 disrupted mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

Sexually dimorphic expression of Gata-2 during mouse gonad development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

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/10.1007%2FS10577-012-9274-3

Retinoic acid prevents germ cell mitotic arrest in mouse fetal testes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

WNT4 and RSPO1 are not involved in a case of male-to-female sex reversal with partial duplication of 1p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

Familial Aggregation of Hypospadias: A Cohort Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Emx1 and Emx2 functions in development of dorsal telencephalon.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3279640

Evolution of sex determination and the Y chromosome: SRY-related sequences in marsupials

27 November 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10577-012-9274-3

Male-to-female sex reversal in mice lacking fibroblast growth factor 9

21 January 2018

1 reference

12 December 2020

Does chromosome 22 have anything to do with sex determination: further studies on a 46,XX,22q11.2 del male

1 reference

12 December 2020

An unbalanced autosomal translocation (7;9) associated with feminization

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect

1 reference

12 December 2020

Spatially dynamic expression ofSry in mouse genital ridges

1 reference

12 December 2020

Targeted mutagenesis of the endogenous mouse Mis gene promoter: in vivo definition of genetic pathways of vertebrate sexual development

1 reference

12 December 2020

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

1 reference

12 December 2020

De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development

1 reference

12 December 2020

Male specific expression suggests role of DMRT1 in human sex determination

1 reference

12 December 2020

Complete sex reversal in a WAGR syndrome patient

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation analysis of the EMX2 gene in Kallmann's syndrome

1 reference

12 December 2020

Trisomy 22q12 leads to qter: "aneusomie de recombinaison" of a pericentric inversion

1 reference

12 December 2020

Coral growing on North Sea oil rigs

1 reference

12 December 2020

10.1007/S10577-012-9274-3

Identifiers

DOI

1 reference

Dimensions Publication ID

1253478

1032248339

0 references

1253478

1 reference

1 reference

1 reference