Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Clinicoradiologic data of familial cerebral cavernous malformation with age-related disease burden.
Kim S et al.
Annals of Clinical and Translational Neurology, 2023
Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations.
Much CD et al.
Frontiers in Neurology, 2019
31824402 (PubMed )
Supplement: Data_Sheet_1.PDF
Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling.
Spiegler S et al.
Molecular Syndromology, 2018
Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis.
Labowsky MT et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2017
Review of familial cerebral cavernous malformations and report of seven additional families.
de Vos IJ et al.
American Journal of Medical Genetics. Part A, 2017
Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene.
Yang IY et al.
Korean Journal of Pediatrics, 2016
Cutaneous venous malformations related to KRIT1 mutation: case report and literature review.
Grippaudo FR et al.
Journal of Molecular Neuroscience : Mn, 2013
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.
Riant F et al.
Neurogenetics, 2013
Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.
Cavé-Riant F et al.
European Journal of Human Genetics : Ejhg, 2002
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