BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

297 related articles for article (PubMed ID: 30701383)

  • 1. 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; 67(3):467-471. PubMed ID: 30701383
    [TBL] [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
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 5. 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]  

  • 6. First Report of Concomitant Pathogenic Mutations Within MGC4607/CCM2 and KRIT1/CCM1 in a Familial Cerebral Cavernous Malformation Patient.
    da Fontoura Galvão G; Veloso da Silva E; Fontes-Dantas FL; Filho RC; Alves-Leon S; Marcondes de Souza J
    World Neurosurg; 2020 Oct; 142():481-486.e1. PubMed ID: 32615293
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 20(5):667-9. PubMed ID: 23485406
    [TBL] [Abstract][Full Text] [Related]  

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

  • 9. A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
    Nardella G; Visci G; Guarnieri V; Castellana S; Biagini T; Bisceglia L; Palumbo O; Trivisano M; Vaira C; Scerrati M; Debrasi D; D'Angelo V; Carella M; Merla G; Mazza T; Castori M; D'Agruma L; Fusco C
    Hum Mutat; 2018 Dec; 39(12):1885-1900. PubMed ID: 30161288
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: a case-control study.
    D'Angelo R; Scimone C; Rinaldi C; Trimarchi G; Italiano D; Bramanti P; Amato A; Sidoti A
    Int J Mol Med; 2012 Jun; 29(6):1113-20. PubMed ID: 22378217
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation.
    Yang L; Wu J; Zhang J
    Front Neurol; 2020; 11():70. PubMed ID: 32117029
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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; 334(1-2):97-101. PubMed ID: 24007869
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Deletions in CCM2 are a common cause of cerebral cavernous malformations.
    Liquori CL; Berg MJ; Squitieri F; Leedom TP; Ptacek L; Johnson EW; Marchuk DA
    Am J Hum Genet; 2007 Jan; 80(1):69-75. PubMed ID: 17160895
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Study of cerebral cavernous malformation in Spain and Portugal: high prevalence of a 14 bp deletion in exon 5 of MGC4607 (CCM2 gene).
    Ortiz L; Costa AF; Bellido ML; Solano F; García-Moreno JM; Gamero MA; Izquierdo G; Chadli A; Falcao F; Ferro J; Salas J; Alvarez-Cermeño JC; Montori M; Ramos-Arroyo MA; Palomino A; Pintado E; Lucas M
    J Neurol; 2007 Mar; 254(3):322-6. PubMed ID: 17345049
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. A Novel MGC4607/CCM2 Gene Mutation Associated with Cerebral Spinal and Cutaneous Cavernous Angiomas.
    Cigoli MS; De Benedetti S; Marocchi A; Bacigaluppi S; Primignani P; Gesu G; Citterio A; Tassi L; Mecarelli O; Pulitano P; Penco S
    J Mol Neurosci; 2015 Jul; 56(3):602-7. PubMed ID: 25869611
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report.
    Ishii K; Tozaka N; Tsutsumi S; Muroi A; Tamaoka A
    Medicine (Baltimore); 2020 Jul; 99(29):e19800. PubMed ID: 32702807
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.