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Journal Abstract Search

496 related items for PubMed ID: 28255959

  • 1. 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
    [Abstract] [Full Text] [Related]

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

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 15; 55(2):213-20. PubMed ID: 14755725
    [Abstract] [Full Text] [Related]

  • 7. Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family.
    Du Q, Shi Z, Chen H, Zhang Y, Wang J, Zhou H.
    J Mol Neurosci; 2019 Mar 15; 67(3):467-471. PubMed ID: 30701383
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 64(6):843-8. PubMed ID: 17562932
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 92():100-109. PubMed ID: 26795600
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 29(5):709-17. PubMed ID: 18300272
    [Abstract] [Full Text] [Related]

  • 11. [Identification of a novel inheritable CCM1 gene mutation of 671del AT in a Chinese family with cerebral cavernous malformation].
    Mao Y, Zhao Y, Zhou LF, Huang CX, Shou XF, Gong JL.
    Zhonghua Yi Xue Za Zhi; 2003 Sep 25; 83(18):1572-5. PubMed ID: 14642111
    [Abstract] [Full Text] [Related]

  • 12. 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 25; 24(2):137-146. PubMed ID: 36892712
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family.
    Zhao Y, Xie L, Li P, Song J, Qu T, Fan W, Chen H, Chen D, Lu D, Zhou L, Mao Y.
    J Clin Neurosci; 2011 Jan 23; 18(1):61-5. PubMed ID: 20884211
    [Abstract] [Full Text] [Related]

  • 15. 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 23; 54(4):790-5. PubMed ID: 25185960
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 05; 60(9):479-484. PubMed ID: 28645800
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  • 20. Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations.
    Galvão GDF, Trefilio LM, Salvio AL, da Silva EV, Alves-Leon SV, Fontes-Dantas FL, de Souza JM.
    J Stroke Cerebrovasc Dis; 2024 Nov 05; 33(11):107947. PubMed ID: 39181174
    [Abstract] [Full Text] [Related]

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