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Journal Abstract Search

788 related items for PubMed ID: 17562932

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene.
    Lucas M, Costa AF, García-Moreno JM, Solano F, Gamero MA, Izquierdo G.
    BMC Neurol; 2003 Jul 23; 3():5. PubMed ID: 12877753
    [Abstract] [Full Text] [Related]

  • 4. C329X in KRIT1 is a founder mutation among CCM patients in Sardinia.
    Cau M, Loi M, Melis M, Congiu R, Loi A, Meloni C, Serrenti M, Addis M, Melis MA.
    Eur J Med Genet; 2009 Jul 23; 52(5):344-8. PubMed ID: 19454328
    [Abstract] [Full Text] [Related]

  • 5. Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus.
    Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, Marchuk DA.
    Hum Mutat; 2006 Jan 23; 27(1):118. PubMed ID: 16329096
    [Abstract] [Full Text] [Related]

  • 6. 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 23; 33(2):105-10. PubMed ID: 16529293
    [Abstract] [Full Text] [Related]

  • 7. Spectrum of genotype and clinical manifestations in cerebral cavernous malformations.
    Gault J, Sain S, Hu LJ, Awad IA.
    Neurosurgery; 2006 Dec 23; 59(6):1278-84; discussion 1284-5. PubMed ID: 17277691
    [Abstract] [Full Text] [Related]

  • 8. Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.
    Cavé-Riant F, Denier C, Labauge P, Cécillon M, Maciazek J, Joutel A, Laberge-Le Couteulx S, Tournier-Lasserve E.
    Eur J Hum Genet; 2002 Nov 23; 10(11):733-40. PubMed ID: 12404106
    [Abstract] [Full Text] [Related]

  • 9. 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 23; 29(5):709-17. PubMed ID: 18300272
    [Abstract] [Full Text] [Related]

  • 10. [Cerebral cavernous malformation--its genetic and biological background].
    Fujimura M, Tominaga T.
    Brain Nerve; 2008 Nov 23; 60(11):1271-4. PubMed ID: 19069160
    [Abstract] [Full Text] [Related]

  • 11. 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 23; 27(4):157-9. PubMed ID: 17148043
    [Abstract] [Full Text] [Related]

  • 12. Recent insights into cerebral cavernous malformations: the molecular genetics of CCM.
    Riant F, Bergametti F, Ayrignac X, Boulday G, Tournier-Lasserve E.
    FEBS J; 2010 Mar 23; 277(5):1070-5. PubMed ID: 20096038
    [Abstract] [Full Text] [Related]

  • 13. 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 23; 42(2):235-42. PubMed ID: 20419355
    [Abstract] [Full Text] [Related]

  • 14. Genomic causes of multiple cerebral cavernous malformations in a Japanese population.
    Tsutsumi S, Ogino I, Miyajima M, Ikeda T, Shindo N, Yasumoto Y, Ito M, Arai H.
    J Clin Neurosci; 2013 May 23; 20(5):667-9. PubMed ID: 23485406
    [Abstract] [Full Text] [Related]

  • 15. Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations.
    Lee ST, Choi KW, Yeo HT, Kim JW, Ki CS, Cho YD.
    J Neurol Sci; 2008 Apr 15; 267(1-2):177-81. PubMed ID: 18035376
    [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 15; 334(1-2):97-101. PubMed ID: 24007869
    [Abstract] [Full Text] [Related]

  • 17. A novel KRIT1 gene mutation in a patient with cerebral and multiple spinal cavernous malformations.
    Lee YW, Lee ST, Cha JG, Park JH, Jeon BR, Lee YK, Kim JW, Ki CS.
    Ann Clin Lab Sci; 2010 Nov 15; 40(3):290-4. PubMed ID: 20689144
    [Abstract] [Full Text] [Related]

  • 18. Frequency and phenotypes of cutaneous vascular malformations in a consecutive series of 417 patients with familial cerebral cavernous malformations.
    Sirvente J, Enjolras O, Wassef M, Tournier-Lasserve E, Labauge P.
    J Eur Acad Dermatol Venereol; 2009 Sep 15; 23(9):1066-72. PubMed ID: 19453802
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 61(4):511-523. PubMed ID: 28255959
    [Abstract] [Full Text] [Related]

  • 20. 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 05; 144B(5):691-5. PubMed ID: 17440989
    [Abstract] [Full Text] [Related]

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