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Journal Abstract Search

369 related items for PubMed ID: 27649701

  • 1. 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]

  • 2. 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]

  • 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
    [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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation.
    D'Angelo R, Marini V, Rinaldi C, Origone P, Dorcaratto A, Avolio M, Goitre L, Forni M, Capra V, Alafaci C, Mareni C, Garrè C, Bramanti P, Sidoti A, Retta SF, Amato A.
    Brain Pathol; 2011 Mar; 21(2):215-24. PubMed ID: 21029238
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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 Feb; 52(5):344-8. PubMed ID: 19454328
    [Abstract] [Full Text] [Related]

  • 10. 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; 23(9):1066-72. PubMed ID: 19453802
    [Abstract] [Full Text] [Related]

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  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. 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; 33(11):107947. PubMed ID: 39181174
    [Abstract] [Full Text] [Related]

  • 15. 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
    [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. Mutational analysis of 206 families with cavernous malformations.
    Laurans MS, DiLuna ML, Shin D, Niazi F, Voorhees JR, Nelson-Williams C, Johnson EW, Siegel AM, Steinberg GK, Berg MJ, Scott RM, Tedeschi G, Enevoldson TP, Anson J, Rouleau GA, Ogilvy C, Awad IA, Lifton RP, Gunel M.
    J Neurosurg; 2003 Jul 15; 99(1):38-43. PubMed ID: 12854741
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  • 20. Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view.
    Chen Y, Dong X, Wang Y, Lv H, Chen N, Wang Z, Chen S, Chen P, Xiao S, Zhao J, Dong J.
    Front Neurosci; 2023 Jul 15; 17():1184333. PubMed ID: 37214396
    [Abstract] [Full Text] [Related]

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