(Q57757867)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Francois Vialard

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Valérie Malan

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

author name string

François Thépot

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Luce Vue-Droy

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Azarnouche Ardalan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Patrice Nizard

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Alain Corré

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Bernard Devauchelle

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Tanguy Martin-Denavit

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Marc Nouchy

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Jean-Louis Taillemite

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Marie-France Portnoï

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

language of work or name

English

0 references

publication date

1 July 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

30 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

volume

128A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

page(s)

325-330

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

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

30 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30115

Xp-duplications with and without sex reversal

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30115

X-Y translocations and sex differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30115

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/10.1002%2FAJMG.A.30115

Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30115

Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30115

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30115

Dax1 antagonizes Sry action in mammalian sex determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30115

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/10.1002%2FAJMG.A.30115

Turner syndrome: the case of the missing sex chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30115

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.30115

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15216557%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference