(Q57137366)

1

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Laurence M Boon

2

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Shoji Watanabe

3

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Henri Grynberg

4

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John B Mulliken

European Journal of Human Genetics

5

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publication date

June 2002

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published in

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volume

10

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issue

6

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page(s)

375-380

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exact match

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200817

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cites work

Hemangiomas and vascular malformations in infants and children: a classification based on endothelial characteristics

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Psychological disabilities amongst patients with port wine stains.

21 January 2018

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A family with hereditary port wine stain

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The nature and evolution of port wine stains: a computer-assisted study.

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Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degeneration.

21 January 2018

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Molecular basis of vascular anomalies

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Molecular genetics of vascular malformations

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Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2

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Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

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

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Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

21 January 2018

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Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

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Truncating mutations in FOXC2 cause multiple lymphedema syndromes

21 January 2018

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Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas

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Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)

21 January 2018

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KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation

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Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas")

21 January 2018

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The transcription factor MEF2C-null mouse exhibits complex vascular malformations and reduced cardiac expression of angiopoietin 1 and VEGF

21 January 2018

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Vascular system defects and neuronal apoptosis in mice lacking ras GTPase-activating protein

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The Fps/Fes Protein-Tyrosine Kinase Promotes Angiogenesis in Transgenic Mice

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Thrombospondin-4, an extracellular matrix protein expressed in the developing and adult nervous system promotes neurite outgrowth

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Expression cloning of a human polysialyltransferase that forms the polysialylated neural cell adhesion molecule present in embryonic brain

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In vitro guidance of retinal ganglion cell axons by RAGS, a 25 kDa tectal protein related to ligands for Eph receptor tyrosine kinases

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Clonality and altered behavior of endothelial cells from hemangiomas.

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Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation?

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Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation.

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Birthmarks in infants

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7 January 2021

Familial multiple lateral telangiectatic nevi (port-wine stains or nevi flammei)

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7 January 2021

Genetic aspects of the Klippel-Trenaunay syndrome

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7 January 2021

Immunohistochemistry of port-wine stains and normal skin with endothelium-specific antibodies PAL-E, anti-ICAM-1, anti-ELAM-1, and anti-factor VIIIrAg

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7 January 2021

Ectatic blood vessels in port-wine stains lack innervation: possible role in pathogenesis

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7 January 2021

Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs

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7 January 2021

Genetic mapping of a novel familial form of infantile hemangioma

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7 January 2021