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Journal Abstract Search

337 related items for PubMed ID: 17148043

  • 1. 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
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  • 2. 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
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  • 3. 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
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  • 4. 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
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  • 9. 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, Sociéte Française de Neurochirgurgie, Sociéte de Neurochirurgie de Langue Française.
    Ann Neurol; 2004 Feb; 55(2):213-20. PubMed ID: 14755725
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  • 18. Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
    Limaye N, Revencu N, Van Regemorter N, Garzon M, Bonduelle M, Chung W, Daras MD, Fahey MC, Garrett C, Gillerot Y, Gillessen-Kaesbach G, Giménez-Arnau A, Guzzetta F, Battaglia D, Heimdal K, Lissens W, Taub E, Van Maldergem L, Van Paesschen W, Wieczorek D, Wood NW, Boon L, Vikkula M.
    Hum Genet; 2007 Dec; 122(5):552. PubMed ID: 18383594
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