The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome (Q24290819)

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3 November 2019

title

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

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3 November 2019

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GOA release 2020-03-11

DNA-binding transcription factor activity

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GOA release 2020-03-11

author

Luigi Bisceglia

7

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Mariaserafina S. Ristaldi

3 November 2019

11

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3 November 2019

17

A Verloes

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3 November 2019

1

L Crisponi

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3 November 2019

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G Pilia

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3 November 2019

author name string

M Deiana

2

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3 November 2019

A Loi

3

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3 November 2019

F Chiappe

4

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3 November 2019

M Uda

5

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3 November 2019

P Amati

6

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3 November 2019

L Zelante

8

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3 November 2019

R Nagaraja

9

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3 November 2019

S Porcu

10

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3 November 2019

R Marzella

12

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3 November 2019

M Rocchi

13

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3 November 2019

M Nicolino

14

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3 November 2019

A Lienhardt-Roussie

15

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3 November 2019

A Nivelon

16

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3 November 2019

D Schlessinger

18

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3 November 2019

P Gasparini

19

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3 November 2019

D Bonneau

20

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3 November 2019

A Cao

21

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language of work or name

English

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publication date

1 February 2001

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3 November 2019

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3 November 2019

volume

27

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3 November 2019

issue

2

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3 November 2019

page(s)

159-166

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Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

3 November 2019

cites work

1 reference

7 January 2021

The finnish follicle-stimulating hormone receptor gene mutation is rare in North american women with 46,xx ovarian failure

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7 January 2021

Ovarian differentiation and gonadal failure

1 reference

7 January 2021

A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility

1 reference

7 January 2021

Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene

1 reference

7 January 2021

A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23

1 reference

7 January 2021

Blepharophimosis syndrome is linked to chromosome 3q.

1 reference

7 January 2021

Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]

1 reference

7 January 2021

Cellular Retinol Binding Protein 1 (RBP1): A frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene

1 reference

7 January 2021

24 Rapid amplification of complementary DNA ends for generation of full-length complementary DNAs: Thermal race

1 reference

7 January 2021

Multistep signaling requirements for pituitary organogenesis in vivo

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7 January 2021

Active repression mechanisms of eukaryotic transcription repressors

1 reference

7 January 2021

Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP, distal to the breakpoint

1 reference

7 January 2021

Molecular Cytogenetic Evaluation in a Patient with a Translocation (3;21) Associated with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES)

1 reference

7 January 2021

Position effect in human genetic disease

1 reference

7 January 2021

Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies

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7 January 2021

Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion

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7 January 2021

Co-crystal structure of the HNF-3/fork head DNA-recognition motif resembles histone H5

1 reference

7 January 2021

Five years on the wings of fork head

1 reference

7 January 2021

New member of the winged-helix protein family disrupted in mouse and rat nude mutations

1 reference

7 January 2021

HNF-3 beta is essential for node and notochord formation in mouse development

1 reference

7 January 2021

The mesenchymal winged helix transcription factor Fkh6 is required for the control of gastrointestinal proliferation and differentiation

1 reference

7 January 2021

The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus

1 reference

7 January 2021

A mouse model for hereditary thyroid dysgenesis and cleft palate

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7 January 2021

Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia

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7 January 2021

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

1 reference

7 January 2021

Premature ovarian failure

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7 January 2021

Activin/inhibin beta B subunit gene disruption leads to defects in eyelid development and female reproduction.

1 reference

7 January 2021

Gaping lids, gp, a mutation on centromeric chromosome 11 that causes defective eyelid development in mice.

1 reference

7 January 2021

Vertebrate eye development as modeled in Drosophila

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7 January 2021

Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans

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7 January 2021

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly

1 reference

7 January 2021

Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development

1 reference

7 January 2021

An association among blepharophimosis, resistant ovary syndrome, and true premature menopause

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7 January 2021

Regulation of ovarian follicle atresia

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7 January 2021

A transcriptional partner for MAD proteins in TGF-beta signalling

1 reference

7 January 2021

Growth differentiation factor-9 is required during early ovarian folliculogenesis

1 reference

7 January 2021

Insertion of Inhbb into the Inhba locus rescues the Inhba-null phenotype and reveals new activin functions

1 reference

7 January 2021

High-resolution human/goat comparative map of the goat polled/intersex syndrome (PIS): the human homologue is contained in a human YAC from HSA3q23

1 reference

7 January 2021

Fluorescence in situ hybridization with Alu and L1 polymerase chain reaction probes for rapid characterization of human chromosomes in hybrid cell lines

1 reference

7 January 2021

Jagged-1 mutation analysis in Italian Alagille syndrome patients

1 reference

7 January 2021

Detection of messenger RNA by in situ hybridization to tissue sections and whole mounts

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7 January 2021

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

7 January 2021

Identifiers

DOI

10.1038/84781

2 references

Consolidated OpenCitations Corpus – April 2017

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Dimensions Publication ID

3 November 2019

1047482612

0 references

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017