(Q78384269)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12383817%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

title

Lymphedema-distichiasis syndrome and FOXC2 gene mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12383817%20AND%20SRC:MED&resulttype=core&format=json

Lymphedema–distichiasis syndrome

14 December 2019

main subject

1 reference

6

1 reference

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14 December 2019

David N. Finegold

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12383817%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

author name string

Elias I Traboulsi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12383817%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Khouloud Al-Khayer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12383817%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Masayuki Matsumoto

3

1 reference

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14 December 2019

Mark A Kimak

4

1 reference

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14 December 2019

Susan Crowe

5

1 reference

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14 December 2019

Robert E Ferrell

8

1 reference

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14 December 2019

David M Meisler

9

1 reference

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14 December 2019

language of work or name

English

0 references

publication date

1 October 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12383817%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Ophthalmology

14 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12383817%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

volume

134

1 reference

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14 December 2019

issue

4

1 reference

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14 December 2019

page(s)

592-596

1 reference

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Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

14 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901642-2

Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901642-2

Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901642-2

A gene for lymphedema-distichiasis maps to 16q24.3.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901642-2

Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901642-2

Truncating mutations in FOXC2 cause multiple lymphedema syndromes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901642-2

Analysis of lymphoedema-distichiasis families forFOXC2 mutations reveals small insertions and deletions throughout the gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901642-2

Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901642-2

Hereditary spinal arachnoid cysts, distichiasis, and lymphedema

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901642-2

Distichiasis and cleft palate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901642-2

Distichiasis, congenital heart defects and mixed peripheral vascular anomalies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901642-2

The homeotic gene fork head encodes a nuclear protein and is expressed in the terminal regions of the Drosophila embryo

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901642-2

Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901642-2

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901642-2

Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901642-2

10.1016/S0002-9394(02)01642-2

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12383817%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

1 reference