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Journal Abstract Search

457 related items for PubMed ID: 28000143

  • 1.
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  • 2. 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
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  • 3. 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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  • 4. 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 May; 2013():459253. PubMed ID: 24058906
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  • 6. 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
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  • 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 13; 60(9):479-484. PubMed ID: 28645800
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  • 14. Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.
    Akers AL, Johnson E, Steinberg GK, Zabramski JM, Marchuk DA.
    Hum Mol Genet; 2009 Mar 01; 18(5):919-30. PubMed ID: 19088123
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  • 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 01; 42(2):235-42. PubMed ID: 20419355
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  • 17. 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 01; 27(1):118. PubMed ID: 16329096
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  • 19. 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 01; 86(6):585-8. PubMed ID: 24251678
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  • 20. 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 01; 9(10):e110438. PubMed ID: 25354366
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