(Q34197723)

31 July 2017

1 reference

title

Vascular malformations: localized defects in vascular morphogenesis (English)

1 reference

31 July 2017

1 reference

1

1 reference

31 July 2017

2

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31 July 2017

1 May 2003

1 reference

31 July 2017

1 reference

31 July 2017

63

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31 July 2017

340-351

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31 July 2017

5

1 reference

Cerebral cavernous malformations. Incidence and familial occurrence

31 July 2017

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

Prospective follow-up of 33 asymptomatic patients with familial cerebral cavernous malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

Localized form of multiple glomus tumors: report of the first case showing partial involution

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

Hereditary multiple glomangiomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

Expression of basement membrane and endothelial cell adhesion molecules in vascular malformations of the brain: preliminary observations and working hypothesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

CCM1 gene mutations in families segregating cerebral cavernous malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

Multiple glomus tumor of the pseudocavernous hemangioma type; report of case manifesting a dominant inheritance pattern

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Molecular mechanisms of vasculogenesis and embryonic angiogenesis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Vasculogenesis in the chick embryo. An ultrastructural study

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Scanning electron microscopic study on the development of primitive blood vessels in chick embryos at the early somite-stage.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Mechanisms of angiogenesis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Angiogenesis in cancer, vascular, rheumatoid and other disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Molecular mechanisms of lymphangiogenesis in health and disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

On the origin of the lymphatic system from the veins and the development of the lymph hearts and thoracic duct in the pig

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Lymphangioblasts in the avian wing bud

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Clonality and altered behavior of endothelial cells from hemangiomas.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Monoclonal expansion of endothelial cells in hemangioma: an intrinsic defect with extrinsic consequences?

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Genetic mapping of a novel familial form of infantile hemangioma

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Sensory nerves determine the pattern of arterial differentiation and blood vessel branching in the skin

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Locus for susceptibility for familial capillary malformation (‘port-wine stain’) maps to 5q

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

A locus for hereditary capillary malformations mapped on chromosome 5q

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

A family with hereditary port wine stain

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

An analysis of the natural history of cavernous angiomas.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

The natural history of familial cerebral cavernomas: a retrospective MRI study of 40 patients

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Proliferating cell nuclear antigen (PCNA) in cerebral cavernomas: an immunocytochemical study of 42 cases.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

A gene responsible for cavernous malformations of the brain maps to chromosome 7q

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

ICAP-1, a novel beta1 integrin cytoplasmic domain-associated protein, binds to a conserved and functionally important NPXY sequence motif of beta1 integrin

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Interaction of the integrin beta1 cytoplasmic domain with ICAP-1 protein

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Cutaneous and cerebral haemangiomas associated with eruptive angiokeratomas

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Vascular cutaneous anomalies in children: malformations and hemangiomas

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Molecular distinction and angiogenic interaction between embryonic arteries and veins revealed by ephrin-B2 and its receptor Eph-B4

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Hereditary hemorrhagic telangiectasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

A murine model of hereditary hemorrhagic telangiectasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Defective angiogenesis in mice lacking endoglin

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Endoglin, an ancillary TGFbeta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Arteriovenous malformations in mice lacking activin receptor-like kinase-1

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Assignment of a locus for dominantly inherited venous malformations to chromosome 9p

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Molecular genetics of vascular malformations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

A gene for familial venous malformations maps to chromosome 9p in a second large kindred

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Cellular markers that distinguish the phases of hemangioma during infancy and childhood

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Allelic and locus heterogeneity in inherited venous malformations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Endothelial receptor tyrosine kinases activate the STAT signaling pathway: mutant Tie-2 causing venous malformations signals a distinct STAT activation response

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Functional interaction of vascular endothelial-protein-tyrosine phosphatase with the angiopoietin receptor Tie-2

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Dominant-negative and targeted null mutations in the endothelial receptor tyrosine kinase, tek, reveal a critical role in vasculogenesis of the embryo

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Distinct roles of the receptor tyrosine kinases Tie-1 and Tie-2 in blood vessel formation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Requisite role of angiopoietin-1, a ligand for the TIE2 receptor, during embryonic angiogenesis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Angiopoietin-2, a natural antagonist for Tie2 that disrupts in vivo angiogenesis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Germline SDHD mutation in paraganglioma of the spinal cord

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Familial multiple glomus tumors: report of a pedigree and literature review.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

FAP48, a new protein that forms specific complexes with both immunophilins FKBP59 and FKBP12. Prevention by the immunosuppressant drugs FK506 and rapamycin

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Mechanism of TGFbeta receptor inhibition by FKBP12

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Ligand-regulated binding of FAP68 to the hepatocyte growth factor receptor

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Truncating mutations in FOXC2 cause multiple lymphedema syndromes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

The pathology of lymphangioma circumscriptum

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Mechanisms of angiogenesis and arteriogenesis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

Hereditary lymphedema: evidence for linkage and genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00092.X

7 January 2021

10.1034/J.1399-0004.2003.00092.X

Identifiers

DOI

1 reference

31 July 2017

1 reference

PubMed ID

12752563