Genetic Screening of Pediatric Cavernous Malformations

Cerebral cavernous malformation proteins at a glance

(2014) Kyle M. Draheim et al.   JOURNAL OF CELL SCIENCE

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations

(2014) Maria Sole Cigoli et al.   PLoS One

CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions

(2013) Florence Riant et al.   NEUROGENETICS

De Novo MGC4607 Gene Heterozygous Missense Variants in a Child with Multiple Cerebral Cavernous Malformations

(2012) Lorena Mosca et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Cerebral cavernous malformations: from genes to proteins to disease

(2011) Daniel D. Cavalcanti et al.   JOURNAL OF NEUROSURGERY

Mutation Analysis of CCM1, CCM2 and CCM3 Genes in a Cohort of Italian Patients with Cerebral Cavernous Malformation

(2010) Rosalia D'Angelo et al.   BRAIN PATHOLOGY

Recent insights into cerebral cavernous malformations: the molecular genetics of CCM

(2010) Florence Riant et al.   FEBS Journal

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Treatment and outcome of children with cerebral cavernomas: a survey on 32 patients

(2009) Alessandro Consales et al.   NEUROLOGICAL SCIENCES

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Novel KRIT1 Mutation and No Molecular Evidence of Anticipation in a Family with Cerebral and Spinal Cavernous Malformations

(2008) Jens Kuhn et al.   EUROPEAN NEUROLOGY

Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex

(2008) Sonja Stahl et al.   HUMAN MUTATION

Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations

(2008) Nisha Limaye et al.   NATURE GENETICS