(Q51013784)

http://europepmc.org/abstract/MED/26100530

27 March 2018

title

Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1. (English)

1 reference

http://europepmc.org/abstract/MED/26100530

27 March 2018

author

Sara Nuovo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26100530%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

author name string

M Passeri

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26100530%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

E Di Benedetto

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26100530%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

M Calanchini

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26100530%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

I Meldolesi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26100530%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

M C Di Giacomo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26100530%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

D Petruzzi

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26100530%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

M R Piemontese

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26100530%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

L Zelante

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26100530%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

F Sangiuolo

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26100530%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

G Novelli

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26100530%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

A Fabbri

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26100530%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

F Brancati

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26100530%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

publication date

23 June 2015

1 reference

http://europepmc.org/abstract/MED/26100530

27 March 2018

published in

Journal of Endocrinological Investigation

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26100530%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26100530%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26100530%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

227-233

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26100530%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s40618-015-0334-3

13 June 2020

exact match

0 references

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Mutational probing of the forkhead domain of the transcription factor FOXL2 provides insights into the pathogenicity of naturally occurring mutations

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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation

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21 January 2018

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A novel role for the forkhead transcription factor FOXL2 in activin A-regulated follicle-stimulating hormone beta subunit transcription

21 January 2018

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FoxL2 and Smad3 coordinately regulate follistatin gene transcription

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BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1)

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A novel 30 bp deletion in the FOXL2 gene in a phenotypically normal woman with primary amenorrhoea: case report

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A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23

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Blepharophimosis-ptosis-epicanthus inversus syndrome and hypergonadotropic hypogonadism

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12 December 2020

The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types

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12 December 2020

Pregnancy in a woman with premature ovarian insufficiency associated with blepharophimosis, ptosis, epicanthus inversus syndrome type I. A case report

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12 December 2020

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12 December 2020

FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report

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12 December 2020