(Q33847708)

29 July 2017

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

1 reference

29 July 2017

13

Valerie Arboleda

0 references

Jacqueline K. Hewitt

Jacqueline Hewitt

5

0 references

Andrew H Sinclair

Andrew Sinclair

24

0 references

Peter Koopman

Peter Koopman

22

0 references

Thomas Ohnesorg

Thomas Ohnesorg

2

0 references

Erin Turbitt

Erin Turbitt

8

0 references

Patrick S Western

Patrick Western

12

0 references

Craig A. Smith

Craig Smith

7

0 references

Vincent R Harley

Vincent Harley

21

0 references

Terry Speed

18

Terry Speed

1 reference

29 July 2017

Stefan White

1

1 reference

29 July 2017

Amanda Notini

3

1 reference

29 July 2017

Kelly Roeszler

4

1 reference

29 July 2017

Hinda Daggag

6

1 reference

29 July 2017

Sonja Gustin

9

1 reference

29 July 2017

Jocelyn van den Bergen

10

1 reference

29 July 2017

Denise Miles

11

1 reference

29 July 2017

Valerie Schumacher

14

1 reference

29 July 2017

Lavinia Gordon

15

1 reference

29 July 2017

Katrina Bell

16

1 reference

29 July 2017

Henrik Bengtsson

17

1 reference

29 July 2017

John Hutson

19

1 reference

29 July 2017

Garry Warne

20

1 reference

29 July 2017

Eric Vilain

23

1 reference

29 July 2017

language of work or name

English

0 references

publication date

7 March 2011

1 reference

29 July 2017

1 reference

29 July 2017

6

1 reference

29 July 2017

3

1 reference

29 July 2017

e17793

1 reference

Creative Commons Attribution 4.0 International

29 July 2017

start time

7 March 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Identification of de novo copy number variants associated with human disorders of sexual development

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

A single-array preprocessing method for estimating full-resolution raw copy numbers from all Affymetrix genotyping arrays including GenomeWideSNP 5 & 6.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Histone modifications at human enhancers reflect global cell-type-specific gene expression

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

A functional screen for genes involved in Xenopus pronephros development

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Estimation and assessment of raw copy numbers at the single locus level

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Consensus statement on management of intersex disorders. International Consensus Conference on Intersex

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Gonadal sex reversal in mutant Dax1 XY mice: a failure to upregulate Sox9 in pre-Sertoli cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Detection of large-scale variation in the human genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Sex determination: a 'window' of DAX1 activity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Dax1 is required for testis determination

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Sox9 induces testis development in XX transgenic mice

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Autosomal XX sex reversal caused by duplication of SOX9.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Structural and functional characterization of the mouse Sox9 promoter: implications for campomelic dysplasia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Dax1 antagonizes Sry action in mammalian sex determination

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Mutations in SRY and SOX9: testis-determining genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Sex determination and gonadal development in mammals

28 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017793

Mutations inSRY andSOX9: Testis-determining genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017793

The makings of maleness: towards an integrated view of male sexual development

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017793

Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017793

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017793

Dynamic regulation of mitotic arrest in fetal male germ cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017793

Emerging themes and new challenges in defining the role of structural variation in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017793

Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017793

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/10.1371%2FJOURNAL.PONE.0017793

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/10.1371%2FJOURNAL.PONE.0017793

Long-range activation of Sox9 in Odd Sex (Ods) mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017793

Long-range upstream and downstream enhancers control distinct subsets of the complex spatiotemporal Sox9 expression pattern

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017793

Comparative genomics of the SOX9 region in human and Fugu rubripes: conservation of short regulatory sequence elements within large intergenic regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017793

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017793

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017793

Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049794

Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

29 October 2018

1 reference

12 December 2020

Detecting copy number changes in genomic DNA: MAPH and MLPA

1 reference

12 December 2020

Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father

1 reference

12 December 2020

Disorders of sex development: current understanding and continuing controversy

1 reference

12 December 2020

Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0017793

Identifiers

DOI

1 reference

29 July 2017

0 references

1 reference

29 July 2017

1 reference