Associated Papers
Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants.
Sikta N et al.
Human Molecular Genetics, 2025
A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature.
Liu W et al.
Frontiers in Neurology, 2022
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations.
Fusco C et al.
Human Mutation, 2019
CCM1/KRIT1 mutation in monozygotic twins of a polyzygotic triplet birth: genetic, clinical and radiological characteristics.
Hartmann K et al.
Neurosurgical Review, 2019
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
Nardella G et al.
Human Mutation, 2018
KRIT1 mutations in three Japanese pedigrees with hereditary cavernous malformation.
Hirota K et al.
Human Genome Variation, 2016
Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.
Mondéjar R et al.
Plos One, 2014
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
Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation.
D'Angelo R et al.
Brain Pathology (zurich, Switzerland), 2011
Disseminated Cavernous Malformations Due to KRIT1 Gene Mutation Causing Seizure and Spastic Paraparesis.
Gomathy SB et al.
Annals of Indian Academy of Neurology, 0
Select a paper to view details