202 related articles for article (PubMed ID: 36892712)
1. A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.
Li C; Liu P; Huang W; Wang H; Ma K; Zhuo L; Kang Y; He Q; Lin Y; Kang D; Lin F
Neurogenetics; 2023 Apr; 24(2):137-146. PubMed ID: 36892712
[TBL] [Abstract][Full Text] [Related]
2. A Novel KRIT1/CCM1 Gene Insertion Mutation Associated with Cerebral Cavernous Malformations in a Chinese Family.
Wang H; Pan Y; Zhang Z; Li X; Xu Z; Suo Y; Li W; Wang Y
J Mol Neurosci; 2017 Feb; 61(2):221-226. PubMed ID: 28160210
[TBL] [Abstract][Full Text] [Related]
3. A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation.
Yang C; Wu B; Zhong H; Li Y; Zheng X; Xu Y
Clin Neurol Neurosurg; 2018 Jan; 164():44-46. PubMed ID: 29169046
[TBL] [Abstract][Full Text] [Related]
4. 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.
Rath M; Jenssen SE; Schwefel K; Spiegler S; Kleimeier D; Sperling C; Kaderali L; Felbor U
Eur J Med Genet; 2017 Sep; 60(9):479-484. PubMed ID: 28645800
[TBL] [Abstract][Full Text] [Related]
5. Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation.
Pileggi S; Buscone S; Ricci C; Patrosso MC; Marocchi A; Brunori P; Battistini S; Penco S
J Mol Neurosci; 2010 Oct; 42(2):235-42. PubMed ID: 20419355
[TBL] [Abstract][Full Text] [Related]
6. First Report of Concomitant Pathogenic Mutations Within MGC4607/CCM2 and KRIT1/CCM1 in a Familial Cerebral Cavernous Malformation Patient.
da Fontoura Galvão G; Veloso da Silva E; Fontes-Dantas FL; Filho RC; Alves-Leon S; Marcondes de Souza J
World Neurosurg; 2020 Oct; 142():481-486.e1. PubMed ID: 32615293
[TBL] [Abstract][Full Text] [Related]
7. A Novel CCM1/KRIT1 Heterozygous Nonsense Mutation (c.1864C>T) Associated with Familial Cerebral Cavernous Malformation: a Genetic Insight from an 8-Year Continuous Observational Study.
Yang C; Nicholas VH; Zhao J; Wu B; Zhong H; Li Y; Xu Y
J Mol Neurosci; 2017 Apr; 61(4):511-523. PubMed ID: 28255959
[TBL] [Abstract][Full Text] [Related]
8. 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.
Yang C; Zhao J; Wu B; Zhong H; Li Y; Xu Y
J Mol Neurosci; 2017 Jan; 61(1):8-15. PubMed ID: 27649701
[TBL] [Abstract][Full Text] [Related]
9. Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation.
Battistini S; Rocchi R; Cerase A; Citterio A; Tassi L; Lando G; Patrosso MC; Galli R; Brunori P; Sgrò DL; Pitillo G; Lo Russo G; Marocchi A; Penco S
Arch Neurol; 2007 Jun; 64(6):843-8. PubMed ID: 17562932
[TBL] [Abstract][Full Text] [Related]
10. Exome capture sequencing identifies a novel CCM1 mutation in a Chinese family with multiple cerebral cavernous malformations.
Mao CY; Yang J; Zhang SY; Luo HY; Song B; Liu YT; Wu J; Sun SL; Yang ZH; Du P; Wang YH; Shi CH; Xu YM
Int J Neurosci; 2016 Dec; 126(12):1071-6. PubMed ID: 26643368
[TBL] [Abstract][Full Text] [Related]
11. Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformations.
Riant F; Odent S; Cecillon M; Pasquier L; de Baracé C; Carney MP; Tournier-Lasserve E
Clin Genet; 2014 Dec; 86(6):585-8. PubMed ID: 24251678
[TBL] [Abstract][Full Text] [Related]
12. 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.
Stahl S; Gaetzner S; Voss K; Brackertz B; Schleider E; Sürücü O; Kunze E; Netzer C; Korenke C; Finckh U; Habek M; Poljakovic Z; Elbracht M; Rudnik-Schöneborn S; Bertalanffy H; Sure U; Felbor U
Hum Mutat; 2008 May; 29(5):709-17. PubMed ID: 18300272
[TBL] [Abstract][Full Text] [Related]
13. Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation.
Reddy S; Gorin MB; McCannel TA; Tsui I; Straatsma BR
Graefes Arch Clin Exp Ophthalmol; 2010 Sep; 248(9):1359-61. PubMed ID: 20306072
[TBL] [Abstract][Full Text] [Related]
14. Identification of a Novel CCM1 Frameshift Mutation in a Chinese Han Family With Multiple Cerebral Cavernous Malformations.
Zhang F; Xue Y; Zhang F; Wei X; Zhou Z; Ma Z; Wang X; Shen H; Li Y; Cui X; Liu L
Front Neurosci; 2020; 14():525986. PubMed ID: 33071727
[TBL] [Abstract][Full Text] [Related]
15. Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.
Gianfrancesco F; Cannella M; Martino T; Maglione V; Esposito T; Innocenzi G; Vitale E; Liquori CL; Marchuk DA; Squitieri F
Am J Med Genet B Neuropsychiatr Genet; 2007 Jul; 144B(5):691-5. PubMed ID: 17440989
[TBL] [Abstract][Full Text] [Related]
16. Identification of a c.601C>G mutation in the CCM1 gene in a kindred with multiple skin, spinal and cerebral cavernous malformations.
Haghighi A; Fathi D; Shahbazi M; Motahari MM; Friedman B
J Neurol Sci; 2013 Nov; 334(1-2):97-101. PubMed ID: 24007869
[TBL] [Abstract][Full Text] [Related]
17. CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan.
Chang CW; Hsu PW; Wei KC; Chang CW; Fung HC; Hsih MS; Hsu WC; Ro LS; Chang CN; Wang JJ; Wu YR; Chen ST
Sci Rep; 2019 Aug; 9(1):12387. PubMed ID: 31455779
[TBL] [Abstract][Full Text] [Related]
18. Familial cerebral cavernous malformation: report of a further Italian family.
Nannucci S; Pescini F; Poggesi A; Ciolli L; Patrosso MC; Marocchi A; Inzitari D; Penco S; Pantoni L
Neurol Sci; 2009 Apr; 30(2):143-7. PubMed ID: 19184323
[TBL] [Abstract][Full Text] [Related]
19. A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease.
McDonald DA; Shenkar R; Shi C; Stockton RA; Akers AL; Kucherlapati MH; Kucherlapati R; Brainer J; Ginsberg MH; Awad IA; Marchuk DA
Hum Mol Genet; 2011 Jan; 20(2):211-22. PubMed ID: 20940147
[TBL] [Abstract][Full Text] [Related]
20. Deletions in CCM2 are a common cause of cerebral cavernous malformations.
Liquori CL; Berg MJ; Squitieri F; Leedom TP; Ptacek L; Johnson EW; Marchuk DA
Am J Hum Genet; 2007 Jan; 80(1):69-75. PubMed ID: 17160895
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
