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Journal Abstract Search

424 related items for PubMed ID: 18035376

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  • 26. 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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  • 30. Familial cerebral cavernous malformation: report of a further Italian family.
    Nannucci S, Pescini F, Poggesi A, Ciolli L, Patrosso MC, Marocchi A, Inzitari D, Penco S, Pantoni L.
    Neurol Sci; 2009 Apr 13; 30(2):143-7. PubMed ID: 19184323
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  • 31. A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma.
    Kitzmann AS, Pulido JS, Ferber MJ, Highsmith WE, Babovic-Vuksanovic D.
    Ophthalmic Genet; 2006 Dec 13; 27(4):157-9. PubMed ID: 17148043
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  • 34. 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 13; 42(2):235-42. PubMed ID: 20419355
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  • 36. 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 13; 39(12):1885-1900. PubMed ID: 30161288
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  • 39. 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 13; 61(2):189-198. PubMed ID: 28000143
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  • 40. Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformations.
    Lucas M, Costa AF, Montori M, Solano F, Zayas MD, Izquierdo G.
    Ann Neurol; 2001 Apr 13; 49(4):529-32. PubMed ID: 11310633
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