(Q48178298)

9 February 2018

title

The human FOXL2 mutation database. (English)

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9 February 2018

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2

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9 February 2018

Elfride De Baere

object named as

Elfride De Baere

5

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Ludwine Messiaen

3

object named as

Ludwine Messiaen

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9 February 2018

author name string

Diane Beysen

1

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9 February 2018

Anne De Paepe

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9 February 2018

publication date

1 September 2004

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9 February 2018

published in

Human Mutation

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9 February 2018

volume

24

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9 February 2018

issue

3

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9 February 2018

page(s)

189-193

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9 February 2018

Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

MuStaR and other software for locus-specific mutation databases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

Alanine tracts: the expanding story of human illness and trinucleotide repeats

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

Mutational analysis of forkhead transcriptional factor 2 (FOXL2) in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

Evolution and expression of FOXL2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

Structure, evolution and expression of the FOXL2 transcription unit

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

FOXL2 mutation screening in a large panel of POF patients and XX males

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

Identification of novel mutations in FOXL2 associated with premature ovarian failure

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

Etiology of ovarian failure in blepharophimosis ptosis epicanthus inversus syndrome: FOXL2 is a conserved, early-acting gene in vertebrate ovarian development.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

A fork in the road to fertility.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

Multistep signaling requirements for pituitary organogenesis in vivo

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20079

7 January 2021

Identifiers

DOI

10.1002/HUMU.20079

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9 February 2018

PubMed ID

15300845

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9 February 2018