(Q37677825)

21 August 2017

Copy number variation analysis in 98 individuals with PHACE syndrome (English)

1 reference

21 August 2017

7

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21 August 2017

14

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21 August 2017

26

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21 August 2017

David L Gibbs

10

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Shannon K. McWeeney

object named as

Shannon McWeeney

17

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author name string

Dawn H Siegel

1

1 reference

21 August 2017

Joseph T C Shieh

2

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21 August 2017

Eun-kyung Kwon

3

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21 August 2017

Eulalia Baselga

4

1 reference

21 August 2017

Francine Blei

5

1 reference

21 August 2017

Maria Cordisco

6

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21 August 2017

Kelly J Duffy

8

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21 August 2017

Maria C Garzon

9

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21 August 2017

Johannes F Grimmer

11

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21 August 2017

Susan J Hayflick

12

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21 August 2017

Alfons L Krol

13

1 reference

21 August 2017

Rachel Lorier

15

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21 August 2017

Andrea Matter

16

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21 August 2017

Denise Metry

18

1 reference

21 August 2017

Sheri Mitchell

19

1 reference

21 August 2017

Elena Pope

20

1 reference

21 August 2017

Jennifer L Santoro

21

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21 August 2017

David A Stevenson

22

1 reference

21 August 2017

Pinar Bayrak-Toydemir

23

1 reference

21 August 2017

Beth Wilmot

24

1 reference

21 August 2017

Elizabeth A Worthey

25

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21 August 2017

Beth A Drolet

27

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21 August 2017

Ulrich Broeckel

28

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21 August 2017

language of work or name

English

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publication date

25 October 2012

1 reference

Journal of Investigative Dermatology

21 August 2017

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21 August 2017

133

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21 August 2017

3

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21 August 2017

677-684

1 reference

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literature

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

PI3K/AKT/mTOR Pathway in Angiogenesis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

VEGFR-1 mediates endothelial differentiation and formation of blood vessels in a murine model of infantile hemangioma.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

A copy number variation morbidity map of developmental delay

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

LUMBAR: association between cutaneous infantile hemangiomas of the lower body and regional congenital anomalies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

Functional impact of global rare copy number variation in autism spectrum disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

Consensus Statement on Diagnostic Criteria for PHACE Syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

Non-random maternal X-chromosome inactivation associated with PHACES.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

A critical role for the EphA3 receptor tyrosine kinase in heart development

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

Isolation and characterization of EMILIN-2, a new component of the growing EMILINs family and a member of the EMI domain-containing superfamily

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

An early developmental role for eph-ephrin interaction during vertebrate gastrulation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

Role of copy number variants in structural birth defects

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

Liprin-α4 is a new hypoxia-inducible target gene required for maintenance of cell-cell contacts

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

Genetic dissection of EphA receptor signaling dynamics during retinotopic mapping

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

EMILIN2 (Elastin microfibril interface located protein), potential modifier of thrombosis

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

Sternal malformation/vascular dysplasia association.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

Vascular changes in cerebellar developmental defects

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

Engrailed homeoprotein recruits the adenosine A1 receptor to potentiate ephrin A5 function in retinal growth cones.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

A myomesin mutation associated with hypertrophic cardiomyopathy deteriorates dimerisation properties.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

A comparison of disease severity among affected male versus female patients with PHACE syndrome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

Prospective study of infantile hemangiomas: demographic, prenatal, and perinatal characteristics.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

High EphA3 expressing ophthalmic trigeminal sensory axons are sensitive to ephrin-A5-Fc: implications for lobe specific axon guidance

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

The oncogene phosphatidylinositol 3'-kinase catalytic subunit alpha promotes angiogenesis via vascular endothelial growth factor in ovarian carcinoma.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971866

[The relationship between the expression of HIF-1alpha and the angiogenesis in infancy hemangioma]

1 September 2018

1 reference

12 December 2020

Complex aortic coarctation and PHACE syndrome

1 reference

12 December 2020

Potential role for insulin-like growth factor II and vitronectin in the endothelial-mesenchymal transition process

1 reference

12 December 2020

Early stroke and cerebral vasculopathy in children with facial hemangiomas and PHACE association

1 reference

12 December 2020

Genetic mapping of a novel familial form of infantile hemangioma

1 reference

12 December 2020

Identifiers

DOI

10.1038/JID.2012.367

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

23096700

1 reference