(Q28210862)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12400065%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12400065%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

author

Nicolas Pineda Trujillo

2

1 reference

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14 December 2019

Ana Victoria Valencia

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12400065%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

author name string

Ramírez-Castro JL

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12400065%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Muñetón CM

4

1 reference

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14 December 2019

Botero O

5

1 reference

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14 December 2019

Trujillo O

6

1 reference

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14 December 2019

Vásquez G

7

1 reference

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14 December 2019

Mora BE

8

1 reference

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14 December 2019

Durango N

9

1 reference

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14 December 2019

Bedoya G

10

1 reference

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14 December 2019

Ruiz-Linares A

11

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14 December 2019

language of work or name

English

0 references

publication date

1 November 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12400065%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

14 December 2019

published in

1 reference

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14 December 2019

volume

113

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14 December 2019

issue

1

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14 December 2019

page(s)

47-51

1 reference

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Strong Amerind/white sex bias and a possible Sephardic contribution among the founders of a population in northwest Colombia

14 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10741

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10741

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10741

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10741

Detection of BrdUrd incorporation in mammalian chromosomes by a BrdUrd antibody. III. Demonstration of replication patterns in highly resolved chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10741

Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10741

A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10741

21 January 2018

Identifiers

DOI

10.1002/AJMG.10741

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12400065%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

1 reference