Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations. - Wikidata - wikimedia - TriplyDB

Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.

Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.

http://www.wikidata.org/entity/Q35436403

about

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24 Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst.Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence.Surgical correction of congenital lymphoedema of external female genitalia: case report and review of the literature.The new era of the lymphatic system: no longer secondary to the blood vascular system Understanding lymphangiogenesis in knockout models, the cornea, and ocular diseases for the development of therapeutic interventions.Diagnosis and therapy in children with lymphoedema.Lymphatic development.FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function.Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit.Overlapping biomarkers, pathways, processes and syndromes in lymphatic development, growth and neoplasia.Meibomian Gland Disease: The Role of Gland Dysfunction in Dry Eye Disease.Association of polymorphisms near the FOXC2 gene with the risk of varicose veins in ethnic Russians.Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.Dysmorphogenesis of lymph nodes in Foxc2 haploinsufficient mice.Spinal extradural arachnoid cysts in lymphedema-distichiasis syndrome

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Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.

http://www.wikidata.org/entity/Q35436403

description

2001 nî lūn-bûn

@nan

2001 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2001 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年论文

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name

Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.

@ast

Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.

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type

label

Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.

@ast

Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.

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prefLabel

Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.

@ast

Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.

@en

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Journal of Medical Genetics

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Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.

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P2093

A C Lidral

http://www.w3.org/2001/XMLSchema#string

C A Downs

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C C Nelson

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G Herman

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M C Jones

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M McDonald

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M S Caulder

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M Witte

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R P Erickson

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S L Dagenais

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P2860

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

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

Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1

VEGF-C receptor binding and pattern of expression with VEGFR-3 suggests a role in lymphatic vascular development

Clustered arrangement of winged helix genes fkh-6 and MFH-1: possible implications for mesoderm development

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

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

VEGF-D promotes the metastatic spread of tumor cells via the lymphatics

Hyperplasia of lymphatic vessels in VEGF-C transgenic mice

Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development

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761-766

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10.1136/JMG.38.11.761

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11

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