Condition: Cavernous Hemangioma of Brain


rs1057517753 in KRIT1 gene and Cavernous Hemangioma of Brain PMID 27649701 2017 Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population.

PMID 22699465 2011 Familial cerebral cavernomas due to a KRIT1 mutation presenting with epilepsy.

PMID 23595507 2013 CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.

PMID 24466005 2014 Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.

PMID 27766163 2016 KRIT1 mutations in three Japanese pedigrees with hereditary cavernous malformation.

PMID 11914398 2002 Cerebral cavernous malformations: mutations in Krit1.

PMID 24689081 2014 High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.

PMID 18300272 2008 Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.

PMID 12404106 2002 Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.

PMID 28645800 2017 High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations.

PMID 23584803 2013 Two-hit mechanism in cerebral cavernous malformation? A case of monozygotic twins with a CCM1/KRIT1 germline mutation.

PMID 10508515 1999 Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas.

PMID 11222804 2001 CCM1 gene mutations in families segregating cerebral cavernous malformations.

PMID 15079030 2004 CCM1 mutation screen of sporadic cases with cerebral cavernous malformations.

PMID 17562932 2007 Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation.

PMID 11161805 2001 Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene.

PMID 21029238 2011 Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation.

PMID 10545614 1999 Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1).

PMID 24401931 2014 All subjects were carriers of the founder Q455X 'Common Hispanic Mutation' (CHM) in the KRIT1 gene, and had a clinical diagnosis of CCM or had an affected first- or second-degree relative with CCM.

PMID 19454328 2009 C329X in KRIT1 is a founder mutation among CCM patients in Sardinia.