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 *

384 related articles for article (PubMed ID: 15543491)

  • 1. Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.
    Bergametti F; Denier C; Labauge P; Arnoult M; Boetto S; Clanet M; Coubes P; Echenne B; Ibrahim R; Irthum B; Jacquet G; Lonjon M; Moreau JJ; Neau JP; Parker F; Tremoulet M; Tournier-Lasserve E;
    Am J Hum Genet; 2005 Jan; 76(1):42-51. PubMed ID: 15543491
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations within the MGC4607 gene cause cerebral cavernous malformations.
    Denier C; Goutagny S; Labauge P; Krivosic V; Arnoult M; Cousin A; Benabid AL; Comoy J; Frerebeau P; Gilbert B; Houtteville JP; Jan M; Lapierre F; Loiseau H; Menei P; Mercier P; Moreau JJ; Nivelon-Chevallier A; Parker F; Redondo AM; Scarabin JM; Tremoulet M; Zerah M; Maciazek J; Tournier-Lasserve E;
    Am J Hum Genet; 2004 Feb; 74(2):326-37. PubMed ID: 14740320
    [TBL] [Abstract][Full Text] [Related]  

  • 3. CCM3 mutations are uncommon in cerebral cavernous malformations.
    Verlaan DJ; Roussel J; Laurent SB; Elger CE; Siegel AM; Rouleau GA
    Neurology; 2005 Dec; 65(12):1982-3. PubMed ID: 16380626
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

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

  • 6. 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; 27(1):118. PubMed ID: 16329096
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3.
    Guclu B; Ozturk AK; Pricola KL; Bilguvar K; Shin D; O'Roak BJ; Gunel M
    Neurosurgery; 2005 Nov; 57(5):1008-13. PubMed ID: 16284570
    [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. 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]  

  • 12. 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]  

  • 13. 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]  

  • 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. 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]  

  • 17. 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]  

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 10(11):733-40. PubMed ID: 12404106
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 20.