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

Genotype-phenotype correlations in cerebral cavernous malformations patients.

Annals of neurology - 1 Nov 2006

Denier Christian, Labauge Pierre, Bergametti Françoise, Marchelli Florence, Riant Florence, Arnoult Minh, Maciazek Jacqueline, Vicaut Eric, Brunereau Laurent, Tournier-Lasserve Elisabeth

Abstract excerpt

OBJECTIVE: To compare clinical features of CCM1, CCM2, and CCM3 mutation carriers. METHODS: A detailed clinical and molecular analysis of 163 consecutive cerebral cavernous malformation (CCM) families was performed. RESULTS: A deleterious mutation was detected in 128 probands. Three hundred thirty-three mutation carriers were identified (238 CCM1, 67 CCM2, and 28 CCM3). Ninety-four percent of the probands with an...

Read the complete abstract on PubMed

Topics

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

Share to Cerebral Hemorrhage
Share to Diffusion Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hemangioma, Cavernous, Central Nervous System

Share to KRIT1 Protein

Share to Microtubule-Associated Proteins

Share to Proto-Oncogene Proteins

Share to Seizures

Share to Severity of Illness Index

Source

Identifiers

PMID: 17041941
DOI: 10.1002/ana.20947

Genes

CCM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype-phenotype correlations in cerebral cavernous malformations patients.PMID 17041941Read ↗

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

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

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

Spectrum of genotype and clinical manifestations in cerebral cavernous malformations.Semantic proximity Read ↗

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

Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management.Semantic proximity Read ↗

Recent insights into cerebral cavernous malformations: the molecular genetics of CCM.Semantic proximity Read ↗

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

Cerebral cavernous malformations - An overview on genetics, clinical aspects and therapeutic strategies.Semantic proximity Read ↗

Cerebral cavernous malformations as a disease of vascular permeability: from bench to bedside with caution.Semantic proximity Read ↗

Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations.Semantic proximity Read ↗

Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report.Semantic proximity Read ↗

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