These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

295 related articles for article (PubMed ID: 21029238)

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

  • 2. 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]  

  • 3. Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients.
    D'Angelo R; Alafaci C; Scimone C; Ruggeri A; Salpietro FM; Bramanti P; Tomasello F; Sidoti A
    Biomed Res Int; 2013; 2013():459253. PubMed ID: 24058906
    [TBL] [Abstract][Full Text] [Related]  

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

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

  • 6. 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]  

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

  • 8. Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations.
    Scimone C; Bramanti P; Alafaci C; Granata F; Piva F; Rinaldi C; Donato L; Greco F; Sidoti A; D'Angelo R
    J Mol Neurosci; 2017 Feb; 61(2):189-198. PubMed ID: 28000143
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.
    Mondéjar R; Solano F; Rubio R; Delgado M; Pérez-Sempere A; González-Meneses A; Vendrell T; Izquierdo G; Martinez-Mir A; Lucas M
    PLoS One; 2014; 9(1):e86286. PubMed ID: 24466005
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Molecular Genetic Features of Cerebral Cavernous Malformations (CCM) Patients: An Overall View from Genes to Endothelial Cells.
    Riolo G; Ricci C; Battistini S
    Cells; 2021 Mar; 10(3):. PubMed ID: 33810005
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts.
    Liquori CL; Penco S; Gault J; Leedom TP; Tassi L; Esposito T; Awad IA; Frati L; Johnson EW; Squitieri F; Marchuk DA; Gianfrancesco F
    Neurogenetics; 2008 Feb; 9(1):25-31. PubMed ID: 18060436
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations.
    Rinaldi C; Bramanti P; Scimone C; Donato L; Alafaci C; D'Angelo R; Sidoti A
    J Neurol Sci; 2017 Sep; 380():31-37. PubMed ID: 28870584
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Gene mutations in patients with hereditary cavernous malformations].
    Belousova OB; Bulygina ES; Okishev DN; Prohorchuk EB; Tsygankova SV; Pronin IN; Shishkina LV; Ryzhova MV; Skryabin KG; Konovalov AN
    Zh Nevrol Psikhiatr Im S S Korsakova; 2017; 117(6):66-72. PubMed ID: 28745674
    [TBL] [Abstract][Full Text] [Related]  

  • 17. PDCD10 gene mutations in multiple cerebral cavernous malformations.
    Cigoli MS; Avemaria F; De Benedetti S; Gesu GP; Accorsi LG; Parmigiani S; Corona MF; Capra V; Mosca A; Giovannini S; Notturno F; Ciccocioppo F; Volpi L; Estienne M; De Michele G; Antenora A; Bilo L; Tavoni A; Zamponi N; Alfei E; Baranello G; Riva D; Penco S
    PLoS One; 2014; 9(10):e110438. PubMed ID: 25354366
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ccm3 functions in a manner distinct from Ccm1 and Ccm2 in a zebrafish model of CCM vascular disease.
    Yoruk B; Gillers BS; Chi NC; Scott IC
    Dev Biol; 2012 Feb; 362(2):121-31. PubMed ID: 22182521
    [TBL] [Abstract][Full Text] [Related]  

  • 19. CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study.
    Scimone C; Bramanti P; Ruggeri A; Donato L; Alafaci C; Crisafulli C; Mucciardi M; Rinaldi C; Sidoti A; D'Angelo R
    BMC Med Genet; 2016 Oct; 17(1):74. PubMed ID: 27737651
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 15.