Associated Papers
Genetic mutation and blue rubber bleb nevus syndrome: case reports and literature review.
Xing Y et al.
Frontiers in Genetics, 2025
uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.
Soukarieh O et al.
Npj Genomic Medicine, 2023
37848456 (PubMed )
Supplement: 41525_2023_378_MOESM3_ESM.xlsx › Carrier_of_ENG_c.-68GA
Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance.
Scimone C et al.
Frontiers in Neurology, 2018
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations.
Rinaldi C et al.
Journal of the Neurological Sciences, 2017
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations.
Scimone C et al.
Journal of Molecular Neuroscience : Mn, 2017
A Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous Malformation.
Huang WQ et al.
Frontiers in Aging Neuroscience, 2016
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants
Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.
Mondéjar R et al.
Plos One, 2014
Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients.
D'Angelo R et al.
Biomed Research International, 2013
CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: a case-control study.
D'Angelo R et al.
International Journal of Molecular Medicine, 2012
Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation.
Pileggi S et al.
Journal of Molecular Neuroscience : Mn, 2010
Mutations within the MGC4607 gene cause cerebral cavernous malformations.
Denier C et al.
American Journal of Human Genetics, 2004
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