Milroy disease and the VEGFR-3 mutation phenotype (Q35447741)

8 August 2017

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title

Milroy disease and the VEGFR-3 mutation phenotype (English)

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8 August 2017

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G Brice

1

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8 August 2017

A H Child

2

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8 August 2017

A Evans

3

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8 August 2017

R Bell

4

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8 August 2017

S Mansour

5

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8 August 2017

K Burnand

6

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8 August 2017

M Sarfarazi

7

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8 August 2017

S Jeffery

8

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8 August 2017

P Mortimer

9

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8 August 2017

language of work or name

English

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publication date

1 February 2005

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Journal of Medical Genetics

8 August 2017

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8 August 2017

42

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8 August 2017

2

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8 August 2017

98-102

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Vascular endothelial growth factor C is required for sprouting of the first lymphatic vessels from embryonic veins

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735984

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735984

VEGF-C gene therapy augments postnatal lymphangiogenesis and ameliorates secondary lymphedema.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735984

Lymphangiogenic gene therapy with minimal blood vascular side effects

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735984

Inhibition of lymphangiogenesis with resulting lymphedema in transgenic mice expressing soluble VEGF receptor-3.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735984

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735984

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735984

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735984

Mapping of primary congenital lymphedema to the 5q35.3 region

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735984

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735984

Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735984

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735984

Hereditary lymphedema: evidence for linkage and genetic heterogeneity

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735984

Cardiovascular failure in mouse embryos deficient in VEGF receptor-3

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735984

Segregation analyses and a genome-wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families

26 September 2018

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

Age of onset in hereditary lymphedema

1 reference

12 December 2020

Aplasia of superficial lymphatic capillaries in hereditary and connatal lymphedema (Milroy's disease)

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2004.024802

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8 August 2017

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8 August 2017

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