Cavernous malformations: natural history, diagnosis and treatment

S Batra, D Lin, PF Recinos, J Zhang… - Nature Reviews …, 2009 - nature.com
Cavernous malformations (CMs) consist of dilated vascular channels that have a
characteristic appearance on MRI. CMs are usually found intracranially, although such …

Genetics of cavernous angiomas

P Labauge, C Denier, F Bergametti… - The Lancet …, 2007 - thelancet.com
Cerebral cavernous malformations (CCM) are vascular malformations that can occur as a
sporadic or a familial autosomal dominant disorder. Clinical and cerebral MRI data on large …

Capillary malformation–arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations

I Eerola, LM Boon, JB Mulliken, PE Burrows… - The American Journal of …, 2003 - cell.com
Capillary malformation (CM), or" port-wine stain," is a common cutaneous vascular anomaly
that initially appears as a red macular stain that darkens over years. CM also occurs in …

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

F Bergametti, C Denier, P Labauge, M Arnoult… - The American Journal of …, 2005 - cell.com
Cerebral cavernous malformations (CCMs) are hamartomatous vascular malformations
characterized by abnormally enlarged capillary cavities without intervening brain …

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

CL Liquori, MJ Berg, AM Siegel, E Huang… - The American Journal of …, 2003 - cell.com
Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central
nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and …

KRIT-1/CCM1 is a Rap1 effector that regulates endothelial cell–cell junctions

A Glading, J Han, RA Stockton… - The Journal of cell …, 2007 - rupress.org
Cerebral cavernous malformation (CCM), a disease associated with defective endothelial
junctions, result from autosomal dominant CCM1 mutations that cause loss of KRIT-1 protein …

Control of cell adhesion dynamics by Rap1 signaling

B Boettner, L Van Aelst - Current opinion in cell biology, 2009 - Elsevier
Individual cells in their particular environments adhere to the extracellular matrix (ECM) and
their neighbours via integrin-containing and cadherin-containing complexes, respectively …

RASA1: variable phenotype with capillary and arteriovenous malformations

LM Boon, JB Mulliken, M Vikkula - Current opinion in genetics & …, 2005 - Elsevier
Capillary malformation-arteriovenous malformation (CM-AVM) is a newly discovered
hereditary disorder. Its defining features are atypical cutaneous multifocal capillary …

Genetic causes of vascular malformations

P Brouillard, M Vikkula - Human molecular genetics, 2007 - academic.oup.com
Vascular malformations are localized defects of vascular development. They usually affect a
limited number of vessels in a restricted area of the body. Although most malformations are …

Genotype–phenotype correlations in cerebral cavernous malformations patients

C Denier, P Labauge, F Bergametti… - Annals of Neurology …, 2006 - Wiley Online Library
Objective To compare clinical features of CCM1, CCM2, and CCM3 mutation carriers.
Methods A detailed clinical and molecular analysis of 163 consecutive cerebral cavernous …