(Q28242068)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14758361%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

title

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14758361%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

main subject

Antley-Bixler syndrome

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14758361%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

Wiebke Arlt

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14758361%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

Ethylin Wang Jabs

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14758361%20AND%20SRC:MED&resulttype=core&format=json

Berenice Bilharinho Mendonca

18 November 2019

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14758361%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

author name string

Christa E Flück

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14758361%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

Toshihro Tajima

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14758361%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

Kouji Okuhara

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14758361%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

Charles F Verge

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14758361%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

Kenji Fujieda

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14758361%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

Walter L Miller

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14758361%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

language of work or name

English

0 references

publication date

1 February 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14758361%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14758361%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14758361%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

page(s)

228-230

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14758361%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14758361%20AND%20SRC:MED&resulttype=core&format=json

Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

18 November 2019

cites work

1 reference

A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations.

21 January 2018

1 reference

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia

21 January 2018

1 reference

Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase

21 January 2018

1 reference

Identification of novel roles of the cytochrome p450 system in early embryogenesis: effects on vasculogenesis and retinoic Acid homeostasis

21 January 2018

1 reference

FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.

21 January 2018

1 reference

Three-dimensional structure of NADPH-cytochrome P450 reductase: prototype for FMN- and FAD-containing enzymes

21 January 2018

1 reference

The genetic and functional basis of isolated 17,20-lyase deficiency

21 January 2018

1 reference

Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer

21 January 2018

1 reference

Male Pseudohermaphroditism Due to Multiple Defects in Steroid-Biosynthetic Microsomal Mixed-Function Oxidases

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG1300

2 references

Consolidated OpenCitations Corpus – April 2017

2020558

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14758361%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

2020558

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

2020558

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14758361%20AND%20SRC:MED&resulttype=core&format=json