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Journal Abstract Search

457 related items for PubMed ID: 28000143

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  • 44. Molecular Genetic Features of Cerebral Cavernous Malformations (CCM) Patients: An Overall View from Genes to Endothelial Cells.
    Riolo G, Ricci C, Battistini S.
    Cells; 2021 Mar 22; 10(3):. PubMed ID: 33810005
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  • 45. Predictive genetic testing of at-risk relatives requires analysis of all CCM genes after identification of an unclassified CCM1 variant in an individual affected with cerebral cavernous malformations.
    Schröder W, Najm J, Spiegler S, Mair M, Viera J, Henn W, Felbor U.
    Neurosurg Rev; 2014 Jan 22; 37(1):161-5. PubMed ID: 23722637
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  • 46. A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells.
    Pagenstecher A, Stahl S, Sure U, Felbor U.
    Hum Mol Genet; 2009 Mar 01; 18(5):911-8. PubMed ID: 19088124
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  • 48. Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts.
    Liquori CL, Penco S, Gault J, Leedom TP, Tassi L, Esposito T, Awad IA, Frati L, Johnson EW, Squitieri F, Marchuk DA, Gianfrancesco F.
    Neurogenetics; 2008 Feb 01; 9(1):25-31. PubMed ID: 18060436
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  • 50. First Report of Concomitant Pathogenic Mutations Within MGC4607/CCM2 and KRIT1/CCM1 in a Familial Cerebral Cavernous Malformation Patient.
    da Fontoura Galvão G, Veloso da Silva E, Fontes-Dantas FL, Filho RC, Alves-Leon S, Marcondes de Souza J.
    World Neurosurg; 2020 Oct 01; 142():481-486.e1. PubMed ID: 32615293
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  • 51. Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene.
    Garaci F, Marsili L, Riant F, Marziali S, Cécillon M, Pasquarelli R, Sangiuolo F, Floris R, Novelli G, Tournier-Lasserve E, Brancati F.
    Neuroradiol J; 2015 Jun 01; 28(3):289-93. PubMed ID: 26246098
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  • 53. C329X in KRIT1 is a founder mutation among CCM patients in Sardinia.
    Cau M, Loi M, Melis M, Congiu R, Loi A, Meloni C, Serrenti M, Addis M, Melis MA.
    Eur J Med Genet; 2009 Jun 01; 52(5):344-8. PubMed ID: 19454328
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  • 55. A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease.
    McDonald DA, Shenkar R, Shi C, Stockton RA, Akers AL, Kucherlapati MH, Kucherlapati R, Brainer J, Ginsberg MH, Awad IA, Marchuk DA.
    Hum Mol Genet; 2011 Jan 15; 20(2):211-22. PubMed ID: 20940147
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  • 56. Molecular screening test in familial forms of cerebral cavernous malformation: the impact of the Multiplex Ligation-dependent Probe Amplification approach.
    Penco S, Ratti R, Bianchi E, Citterio A, Patrosso MC, Marocchi A, Tassi L, La Camera A, Collice M.
    J Neurosurg; 2009 May 15; 110(5):929-34. PubMed ID: 19199464
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  • 57. Cerebral cavernous malformation: new molecular and clinical insights.
    Revencu N, Vikkula M.
    J Med Genet; 2006 Sep 15; 43(9):716-21. PubMed ID: 16571644
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