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Journal Abstract Search

477 related items for PubMed ID: 27561926

  • 1. Genetic Screening of Pediatric Cavernous Malformations.
    Merello E, Pavanello M, Consales A, Mascelli S, Raso A, Accogli A, Cama A, Valeria C, De Marco P.
    J Mol Neurosci; 2016 Oct; 60(2):232-8. PubMed ID: 27561926
    [Abstract] [Full Text] [Related]

  • 2. 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
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  • 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
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  • 5. 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
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  • 6. 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 May; 9(1):e86286. PubMed ID: 24466005
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  • 7. 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 13; 17(1):74. PubMed ID: 27737651
    [Abstract] [Full Text] [Related]

  • 8. [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 Oct 13; 117(6):66-72. PubMed ID: 28745674
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  • 10. 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 Oct 13; 2013():459253. PubMed ID: 24058906
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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 13; 86(6):585-8. PubMed ID: 24251678
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  • 13. 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 Dec 13; 9(10):e110438. PubMed ID: 25354366
    [Abstract] [Full Text] [Related]

  • 14. 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 13; 27(1):118. PubMed ID: 16329096
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  • 16. 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 13; 64(6):843-8. PubMed ID: 17562932
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  • 17. 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 13; 33(11):107947. PubMed ID: 39181174
    [Abstract] [Full Text] [Related]

  • 18. 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 13; 21(2):215-24. PubMed ID: 21029238
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  • 19. 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 15; 380():31-37. PubMed ID: 28870584
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