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788 related items for PubMed ID: 17562932

  • 21. A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family.
    Zhao Y, Xie L, Li P, Song J, Qu T, Fan W, Chen H, Chen D, Lu D, Zhou L, Mao Y.
    J Clin Neurosci; 2011 Jan; 18(1):61-5. PubMed ID: 20884211
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  • 22. 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
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  • 23. CCM3 mutations are uncommon in cerebral cavernous malformations.
    Verlaan DJ, Roussel J, Laurent SB, Elger CE, Siegel AM, Rouleau GA.
    Neurology; 2005 Dec 27; 65(12):1982-3. PubMed ID: 16380626
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  • 24. 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 27; 9(10):e110438. PubMed ID: 25354366
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  • 26. A Novel KRIT1/CCM1 Gene Insertion Mutation Associated with Cerebral Cavernous Malformations in a Chinese Family.
    Wang H, Pan Y, Zhang Z, Li X, Xu Z, Suo Y, Li W, Wang Y.
    J Mol Neurosci; 2017 Feb 27; 61(2):221-226. PubMed ID: 28160210
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  • 27. Cerebral cavernous malformation: new molecular and clinical insights.
    Revencu N, Vikkula M.
    J Med Genet; 2006 Sep 27; 43(9):716-21. PubMed ID: 16571644
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  • 28. Features of a Chinese family with cerebral cavernous malformation induced by a novel CCM1 gene mutation.
    Wang X, Liu XW, Lee N, Liu QJ, Li WN, Han T, Wei KK, Qiao S, Chi ZF.
    Chin Med J (Engl); 2013 Sep 27; 126(18):3427-32. PubMed ID: 24034083
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  • 30. 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 27; 60(9):479-484. PubMed ID: 28645800
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  • 32. Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1).
    Kehrer-Sawatzki H, Wilda M, Braun VM, Richter HP, Hameister H.
    Acta Neuropathol; 2002 Sep 27; 104(3):231-40. PubMed ID: 12172908
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  • 33. 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 27; 61(2):189-198. PubMed ID: 28000143
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  • 34. 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 27; 29(6):1113-20. PubMed ID: 22378217
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  • 37. Patterns of expression of the three cerebral cavernous malformation (CCM) genes during embryonic and postnatal brain development.
    Petit N, Blécon A, Denier C, Tournier-Lasserve E.
    Gene Expr Patterns; 2006 Jun 27; 6(5):495-503. PubMed ID: 16455310
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  • 39. 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 27; 30(2):143-7. PubMed ID: 19184323
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  • 40. Cutaneous venous malformations in familial cerebral cavernomatosis caused by KRIT1 gene mutations.
    Toll A, Parera E, Giménez-Arnau AM, Pou A, Lloreta J, Limaye N, Vikkula M, Pujol RM.
    Dermatology; 2009 Apr 27; 218(4):307-13. PubMed ID: 19182478
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