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

Molecular Genetic Screening of CCM Patients: An Overview.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2020

Tournier-Lasserve Elisabeth

Abstract excerpt

Cerebral Cavernous Malformations (CCMs) are vascular lesions which can occur as a sporadic (80% of the cases) or a familial autosomal dominant disease (20%), the latter being characterized by the presence of multiple lesions. Three CCM genes have been identified in the last 10 years. More than 95% of familial cases and 60% of sporadic cases with multiple lesions harbor a germline heterozygous loss of function...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Family
Share to Genetic Counseling

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

Share to Genetic Predisposition to Disease

Share to Genetic Testing

Share to Germ-Line Mutation

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 32524543
DOI: 10.1007/978-1-0716-0640-7_4

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

Molecular Genetic Screening of CCM Patients: An Overview.PMID 32524543Read ↗

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

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

Molecular diagnosis in cerebral cavernous malformations.Semantic proximity Read ↗

Genetic Screening of Pediatric Cavernous Malformations.Semantic proximity Read ↗

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

Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations.Semantic proximity Read ↗

Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis.Semantic proximity Read ↗

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

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

Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion.Semantic proximity Read ↗

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

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