266 related articles for article (PubMed ID: 20306072)
1. 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]
2. A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma.
Kitzmann AS; Pulido JS; Ferber MJ; Highsmith WE; Babovic-Vuksanovic D
Ophthalmic Genet; 2006 Dec; 27(4):157-9. PubMed ID: 17148043
[TBL] [Abstract][Full Text] [Related]
3. A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas.
Couteulx SL; Brézin AP; Fontaine B; Tournier-Lasserve E; Labauge P
Arch Ophthalmol; 2002 Feb; 120(2):217-8. PubMed ID: 11831930
[No Abstract] [Full Text] [Related]
4. 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]
5. Cerebral cavernous malformations: mutations in Krit1.
Verlaan DJ; Davenport WJ; Stefan H; Sure U; Siegel AM; Rouleau GA
Neurology; 2002 Mar; 58(6):853-7. PubMed ID: 11914398
[TBL] [Abstract][Full Text] [Related]
6. Familial cerebral cavernous angiomas: clinical and genetic features in a Chinese family with a frame-shift mutation in the CCM1 gene (krit1).
Zhu H; Guo Y; Feng X; Zhang R; Zhou C; Li G; Liu J
J Mol Neurosci; 2014 Dec; 54(4):790-5. PubMed ID: 25185960
[TBL] [Abstract][Full Text] [Related]
7. Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis.
Labowsky MT; Walter SD; McDonald MT; Mruthyunjaya P
J AAPOS; 2017 Oct; 21(5):426-429.e1. PubMed ID: 28867399
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. Novel CCM1 (KRIT1) Mutation Detection in Brazilian Familial Cerebral Cavernous Malformation: Different Genetic Variants in Inflammation, Oxidative Stress, and Drug Metabolism Genes Affect Disease Aggressiveness.
Fontes-Dantas FL; da Fontoura Galvão G; Veloso da Silva E; Alves-Leon S; Cecília da Silva Rêgo C; Garcia DG; Marques SA; Blanco Martinez AM; Reis da Silva M; Marcondes de Souza J
World Neurosurg; 2020 Jun; 138():535-540.e8. PubMed ID: 32113992
[TBL] [Abstract][Full Text] [Related]
14. CCM1 mutation screen of sporadic cases with cerebral cavernous malformations.
Verlaan DJ; Laurent SB; Sure U; Bertalanffy H; Andermann E; Andermann F; Rouleau GA; Siegel AM
Neurology; 2004 Apr; 62(7):1213-5. PubMed ID: 15079030
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1.
Choquet H; Trapani E; Goitre L; Trabalzini L; Akers A; Fontanella M; Hart BL; Morrison LA; Pawlikowska L; Kim H; Retta SF
Free Radic Biol Med; 2016 Mar; 92():100-109. PubMed ID: 26795600
[TBL] [Abstract][Full Text] [Related]
17. A novel deletion mutation in CCM1 gene (krit1) is detected in a Chinese family with cerebral cavernous malformations.
Ji BH; Qin W; Sun T; Feng GY; He L; Wang YJ
Yi Chuan Xue Bao; 2006 Feb; 33(2):105-10. PubMed ID: 16529293
[TBL] [Abstract][Full Text] [Related]
18. A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations.
Lanfranconi S; Ronchi D; Ahmed N; Civelli V; Basilico P; Bresolin N; Comi GP; Corti S
BMC Neurol; 2014 Aug; 14():158. PubMed ID: 25086949
[TBL] [Abstract][Full Text] [Related]
19. Association of cardiovascular risk factors with disease severity in cerebral cavernous malformation type 1 subjects with the common Hispanic mutation.
Choquet H; Nelson J; Pawlikowska L; McCulloch CE; Akers A; Baca B; Khan Y; Hart B; Morrison L; Kim H
Cerebrovasc Dis; 2014; 37(1):57-63. PubMed ID: 24401931
[TBL] [Abstract][Full Text] [Related]
20. Clinical features of cerebral cavernous malformations patients with KRIT1 mutations.
Denier C; Labauge P; Brunereau L; Cavé-Riant F; Marchelli F; Arnoult M; Cecillon M; Maciazek J; Joutel A; Tournier-Lasserve E; ;
Ann Neurol; 2004 Feb; 55(2):213-20. PubMed ID: 14755725
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
