Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Spectrum of genotype and clinical manifestations in cerebral cavernous malformations.

Neurosurgery - 1 Dec 2006

Gault Judith, Sain Stephan, Hu Ling-Jia, Awad Issam A

Abstract excerpt

OBJECTIVE: Cerebral cavernous malformations (CCMs) are focal dysmorphic blood vessel anomalies predisposing individuals to hemorrhagic stroke and epilepsy. CCMs are sporadic or inherited as autosomal dominant disease with three known genes. The hypothesis that genetic heterogeneity would account for the remarkable variability in CCM manifestations was tested. METHODS: CCM cases were prospectively enrolled....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Colorado
Share to Family
Share to Hemangioma, Cavernous, Central Nervous System

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to KRIT1 Protein

Share to Microtubule-Associated Proteins

Share to Prevalence

Share to Proto-Oncogene Proteins

Share to Risk Assessment

Source

Identifiers

PMID: 17277691
DOI: 10.1227/01.NEU.0000249188.38409.03

Genes

CCM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Spectrum of genotype and clinical manifestations in cerebral cavernous malformations.PMID 17277691Read ↗

Genetics of cerebral cavernous malformations: current status and future prospects.Semantic proximity Read ↗

Genotype-phenotype correlations in cerebral cavernous malformations patients.Semantic proximity Read ↗

Features of a Chinese family with cerebral cavernous malformation induced by a novel CCM1 gene mutation.Semantic proximity Read ↗

Association of cardiovascular risk factors with disease severity in cerebral cavernous malformation type 1 subjects with the common Hispanic mutation.Semantic proximity Read ↗

Clinical, neuroradiological and genetic findings in a cohort of patients with multiple Cerebral Cavernous Malformations.Semantic proximity Read ↗

Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management.Semantic proximity Read ↗

CCM1 mutation screen of sporadic cases with cerebral cavernous malformations.Semantic proximity Read ↗

Identification of a c.601C>G mutation in the CCM1 gene in a kindred with multiple skin, spinal and cerebral cavernous malformations.Semantic proximity Read ↗

Cerebral cavernous malformations: clinical insights from genetic studies.Semantic proximity Read ↗

Prevalence, genetic and clinical characteristics in first-degree relatives of patients with familial cerebral cavernous malformations in China.Semantic proximity Read ↗

Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation.Semantic proximity Read ↗

Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.