Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development. (Q38918334)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Elisabeth Sock

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Ina Georg

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Sebastian A Widholz

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

author name string

Gwang-Jin Kim

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Astrid Buchberger

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Walter Just

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Friederike Denzer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Wolfgang Hoepffner

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

James German

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Trevor Cole

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Jillian Mann

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

John H Seguin

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

William Zipf

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Colm Costigan

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Hardi Schmiady

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Moritz Rostásy

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Mildred Kramer

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Simon Kaltenbach

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Bernd Rösler

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Elke Troppmann

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Anne-Christin Teichmann

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Anika Salfelder

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Peter Wieacker

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Giovanna Camerino

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Orietta Radi

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Hans-Henning Arnold

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Gerd Scherer

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Olaf Hiort

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

language of work or name

English

0 references

publication date

20 January 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

28 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

volume

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

page(s)

240-247

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

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

28 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

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/10.1136%2FJMEDGENET-2014-102864

Homozygous inactivation of Sox9 causes complete XY sex reversal in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

Autosomal XX sex reversal caused by duplication of SOX9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

Sox9 induces testis development in XX transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

A SOX9 duplication and familial 46,XX developmental testicular disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

XX males SRY negative: a confirmed cause of infertility

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

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/10.1136%2FJMEDGENET-2014-102864

A rare case of 46, XX SRY-negative male with approximately 74-kb duplication in a region upstream of SOX9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

Genetically Determined Sex-Reversal in 46,XY Humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

Control of sex development

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

Sry: the master switch in mammalian sex determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

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/10.1136%2FJMEDGENET-2014-102864

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/10.1136%2FJMEDGENET-2014-102864

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

A far-upstream (-70 kb) enhancer mediates Sox9 auto-regulation in somatic tissues during development and adult regeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

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/10.1136%2FJMEDGENET-2014-102864

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

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/10.1136%2FJMEDGENET-2014-102864

SOX9 duplication linked to intersex in deer

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

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/10.1136%2FJMEDGENET-2014-102864

Tissue-specific transcriptional regulation has diverged significantly between human and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

Five-vertebrate ChIP-seq reveals the evolutionary dynamics of transcription factor binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102864

10.1136/JMEDGENET-2014-102864

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604083%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference