Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. (Q35012760)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911200%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911200%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911200%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

author name string

Fiona Connell

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911200%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Kamini Kalidas

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911200%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Glen Brice

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911200%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Tessa Homfray

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911200%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Lesley Roberts

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911200%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

David J Bunyan

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911200%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Sally Mitton

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911200%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Sahar Mansour

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911200%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Peter Mortimer

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911200%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Steve Jeffery

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911200%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Lymphoedema Consortium

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911200%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

publication date

13 November 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911200%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911200%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

volume

127

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911200%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

page(s)

231-241

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911200%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911200%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00439-009-0766-y

12 February 2020

exact match

0 references

cites work

The pathophysiology of lymphedema

1 reference

12 December 2020

Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

1 reference

12 December 2020

Molecular lymphangiogenesis: new players.

1 reference

12 December 2020

Further delineation of Hennekam syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

1 reference

12 December 2020

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

1 reference

12 December 2020

Expansion of the phenotype in Hennekam syndrome: a case with new manifestations.

1 reference

12 December 2020

Candidate gene analysis in primary lymphedema

1 reference

12 December 2020

Prox1 function is required for the development of the murine lymphatic system

1 reference

12 December 2020

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

1 reference

12 December 2020

Craniosynostosis and kidney malformation in a case of Hennekam syndrome.

1 reference

12 December 2020

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia

1 reference

12 December 2020

Hereditary lymphedema: evidence for linkage and genetic heterogeneity

1 reference

12 December 2020

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

1 reference

12 December 2020

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

12 December 2020

Primer3 on the WWW for general users and for biologist programmers

1 reference

12 December 2020

Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations

1 reference

12 December 2020

A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR.

1 reference

12 December 2020

1 reference

12 December 2020

Protein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome

1 reference

12 December 2020

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review

1 reference

12 December 2020

Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype.

1 reference

12 December 2020

Early death in two sisters with Hennekam syndrome

1 reference

12 December 2020

PDZ interaction site in ephrinB2 is required for the remodeling of lymphatic vasculature

1 reference

12 December 2020

Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting

1 reference

12 December 2020

Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins

1 reference

12 December 2020