Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24 (Q24301349)

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

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instance of

scholarly article

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title

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

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main subject

patient

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Forkhead box C2

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stated in

GOA release 2020-03-11

lymphangiogenesis

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stated in

GOA release 2020-03-11

author name string

G Brice

series ordinal

1

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S Mansour

series ordinal

2

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R Bell

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3

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J R O Collin

series ordinal

4

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A H Child

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5

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A F Brady

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6

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M Sarfarazi

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7

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K G Burnand

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8

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S Jeffery

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9

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P Mortimer

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10

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V A Murday

series ordinal

11

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language of work or name

English

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publication date

July 2002

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published in

Journal of Medical Genetics

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volume

39

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issue

7

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page(s)

478-83

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cites work

The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somitogenesis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735188

retrieved

19 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735188

retrieved

19 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735188

retrieved

19 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735188

retrieved

19 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735188

retrieved

19 March 2017

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735188

retrieved

19 March 2017

FOXC2 is a winged helix gene that counteracts obesity, hypertriglyceridemia, and diet-induced insulin resistance

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735188

retrieved

19 March 2017

A NEW SYNDROME COMBINING PTERYGIUM COLLI WITH DEVELOPMENTAL ANOMALIES OF THE EYELIDS AND LYMPHATICS OF THE LOWER EXTREMITIES

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735188

retrieved

27 September 2017

Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735188

retrieved

27 September 2017

Truncating mutations in FOXC2 cause multiple lymphedema syndromes

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735188

retrieved

27 September 2017

Hereditary lymphedema: evidence for linkage and genetic heterogeneity

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735188

retrieved

27 September 2017

Corneal hypoaesthesia in asymptomatic familial distichiasis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735188

retrieved

27 September 2017

Primary lymphoedema when found with distichiasis is of the type defined as bilateral hyperplasia by lymphography

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735188

retrieved

27 September 2017

Reduction of the genetic interval for lyphoedema-distichiasis to below 2 Mb.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735188

retrieved

29 November 2018

The embryonic development of the main lymphatics in man.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735188

retrieved

29 November 2018

Distichiasis-lymphoedema: clinical features, venous function and lymphoscintigraphy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12114478

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distichiasis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12114478

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distichiasis-lymphoedema syndrome: a family report

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12114478

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distichiasis, congenital heart defects and mixed peripheral vascular anomalies

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12114478

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary spinal arachnoid cysts, distichiasis, and lymphedema

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12114478

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12114478

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1136/JMG.39.7.478

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4306265

OpenCitations bibliographic resource ID

4306265

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4306265

PMC publication ID

1735188

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4306265

PubMed publication ID

12114478

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4306265

ResearchGate publication ID

277422500

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