FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation (Q24610524)

19

0 references

Koen Devriendt

7

0 references

Lionel Van Maldergem

18

0 references

Elfride De Baere

Elfride De Baere

1

0 references

Ludwine Messiaen

21

Ludwine Messiaen

0 references

Julie Cocquet

Julie Cocquet

5

1 reference

ORCID Public Data File 2021

Petra De Sutter

6

Paul De Sutter

0 references

Pasi A. Koivisto

13

Pasi A Koivisto

0 references

author name string

Diane Beysen

2

0 references

Christine Oley

3

0 references

Birgit Lorenz

4

0 references

Michael Dixon

8

0 references

Marc Fellous

9

0 references

Arturo Garza

11

0 references

Christoffer Jonsrud

12

0 references

Amanda Krause

14

0 references

Bart P Leroy

15

0 references

Françoise Meire

16

0 references

Astrid Plomp

17

0 references

Reiner Veitia

American Journal of Human Genetics

20

0 references

language of work or name

English

0 references

publication date

February 2003

0 references

published in

0 references

volume

72

0 references

issue

2

0 references

page(s)

478-87

0 references

cites work

Evolution and expression of FOXL2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

Identification of novel mutations in FOXL2 associated with premature ovarian failure

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

Coaxial stacking of helixes enhances binding of oligoribonucleotides and improves predictions of RNA folding

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

The human intronless melanocortin 4-receptor gene is NMD insensitive

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

Forkhead transcription factors: key players in development and metabolism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

A 11.7-kb deletion triggers intersexuality and polledness in goats

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

Fine mapping suggests that the goat Polled Intersex Syndrome and the human Blepharophimosis Ptosis Epicanthus Syndrome map to a 100-kb homologous region.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

Functional domains of the Drosophila Engrailed protein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

A fork in the road to fertility.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

Blepharophimosis syndrome is linked to chromosome 3q.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379240

Exploring the etiology of haploinsufficiency

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12529855

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Blepharophimosis sequence andde novo balanced autosomal translocation [46, XY,t(3;4)(q23;p15.2)]: Possible assignment of the trait to 3q23

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12529855

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12529855