(Q31101050)

28 June 2017

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title

Genetics of cavernous angiomas (English)

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28 June 2017

1

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author name string

Christian Denier

series ordinal

2

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28 June 2017

Francoise Bergametti

series ordinal

3

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28 June 2017

Elisabeth Tournier-Lasserve

series ordinal

4

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28 June 2017

publication date

1 March 2007

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28 June 2017

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28 June 2017

volume

6

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28 June 2017

issue

3

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28 June 2017

page(s)

237-244

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The MRI appearance of cavernous malformations (angiomas).

28 June 2017

cites work

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Growth, subsequent bleeding, and de novo appearance of cerebral cavernous angiomas

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Familial cavernous angiomas

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7 January 2021

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A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Clinical features of cerebral cavernous malformations patients with KRIT1 mutations

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7 January 2021

Genotype-phenotype correlations in cerebral cavernous malformations patients

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7 January 2021

Cavernous haemangiomas of the spinal cord. A review of 117 cases

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7 January 2021

Multiple spinal intramedullary cavernous angioma: case report

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7 January 2021

Clinical presentation and optimal management for intramedullary cavernous malformations

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7 January 2021

Intramedullary cavernous angiomas of the spinal cord: clinical presentation, pathological features, and surgical management

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7 January 2021

Cavernous hemangioma of the retina

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7 January 2021

Cavernous hemangioma of the retina. A four-generation pedigree with neurocutaneous manifestations and an example of bilateral retinal involvement

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https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970053-4

7 January 2021

Nine cases of cavernous hemangioma of the retina

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7 January 2021

Cavernous hemangioma of the retina. Immunohistochemical and ultrastructural observations

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7 January 2021

Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: a clinical and genetic study

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7 January 2021

Cavernous Hemangioma of the Retina: A Neuro-Oculo-Cutaneous Syndrome

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7 January 2021

Familial cavernous angiomas

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7 January 2021

Central nervous system involvement in blue-rubber-bleb-nevus syndrome

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7 January 2021

Dynamic nature of cavernous malformations: a prospective magnetic resonance imaging study with volumetric analysis

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7 January 2021

Cutaneous and cerebral haemangiomas associated with eruptive angiokeratomas

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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/10.1016%2FS1474-4422%2807%2970053-4

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970053-4

7 January 2021

The natural history of familial cavernous malformations: results of an ongoing study

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7 January 2021

Unfolding knowledge on cerebral cavernous malformations

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7 January 2021

Familial cerebral cavernous angiomas: clinical and radiologic studies

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Factors predisposing to clinical disability in patients with cavernous malformations of the brain

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7 January 2021

CCM1 mutation screen of sporadic cases with cerebral cavernous malformations

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7 January 2021

No CCM2 mutations in a cohort of 31 sporadic cases

1 reference

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7 January 2021

Molecular genetic investigations in the CCM1 gene in sporadic cerebral cavernomas

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970053-4

7 January 2021

Search for loss of heterozygosity and mutation analysis of KRIT1 gene in CCM patients

1 reference

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7 January 2021

Mutations within the MGC4607 gene cause cerebral cavernous malformations

1 reference

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7 January 2021

Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations

1 reference

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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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

1 reference

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7 January 2021

Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation

1 reference

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7 January 2021

Mutational analysis of 206 families with cavernous malformations.

1 reference

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7 January 2021

Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations

1 reference

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7 January 2021

Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus

1 reference

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7 January 2021

CCM3 mutations are uncommon in cerebral cavernous malformations

1 reference

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7 January 2021

Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970053-4

7 January 2021

Deletions in CCM2 are a common cause of cerebral cavernous malformations

1 reference

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7 January 2021

Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion.

1 reference

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7 January 2021

Intracranial cavernous angioma: a practical review of clinical and biological aspects

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970053-4

7 January 2021

Genetics of cerebral cavernous malformations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970053-4

7 January 2021

Cerebral cavernous malformation: new molecular and clinical insights

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970053-4

7 January 2021

Krit1/cerebral cavernous malformation 1 mRNA is preferentially expressed in neurons and epithelial cells in embryo and adult

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970053-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970053-4

7 January 2021

Patterns of expression of the three cerebral cavernous malformation (CCM) genes during embryonic and postnatal brain development

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970053-4

7 January 2021

KRIT1/cerebral cavernous malformation 1 protein localizes to vascular endothelium, astrocytes, and pyramidal cells of the adult human cerebral cortex

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970053-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970053-4

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/10.1016%2FS1474-4422%2807%2970053-4

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/10.1016%2FS1474-4422%2807%2970053-4

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/10.1016%2FS1474-4422%2807%2970053-4

7 January 2021

CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis

1 reference

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7 January 2021

Sorting nexin 17, a non-self-assembling and a PtdIns(3)P high class affinity protein, interacts with the cerebral cavernous malformation related protein KRIT1

1 reference

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7 January 2021

Rac-MEKK3-MKK3 scaffolding for p38 MAPK activation during hyperosmotic shock.

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7 January 2021

Essential role for p38alpha mitogen-activated protein kinase in placental angiogenesis

1 reference

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7 January 2021

Ccm1 is required for arterial morphogenesis: implications for the etiology of human cavernous malformations.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970053-4

7 January 2021

santa and valentine pattern concentric growth of cardiac myocardium in the zebrafish

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970053-4

7 January 2021

Neuronal expression of the Ccm2 gene in a new mouse model of cerebral cavernous malformations.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970053-4

7 January 2021

10.1016/S1474-4422(07)70053-4

Identifiers

DOI

1 reference

28 June 2017

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