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Vascular morphogenesis: tales of two syndromes.
Marchuk DA, Srinivasan S, Squire TL, Zawistowski JS. Marchuk DA, et al. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R97-112. doi: 10.1093/hmg/ddg103. Hum Mol Genet. 2003. PMID: 12668602 Review.
Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.
Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, Verlaan D, Balogun F, Hughes L, Leedom TP, Plummer NW, Cannella M, Maglione V, Squitieri F, Johnson EW, Rouleau GA, Ptacek L, Marchuk DA. Liquori CL, et al. Among authors: marchuk da. Am J Hum Genet. 2003 Dec;73(6):1459-64. doi: 10.1086/380314. Epub 2003 Nov 17. Am J Hum Genet. 2003. PMID: 14624391 Free PMC article.
Genetics of cerebral cavernous malformations.
Plummer NW, Zawistowski JS, Marchuk DA. Plummer NW, et al. Among authors: marchuk da. Curr Neurol Neurosci Rep. 2005 Sep;5(5):391-6. doi: 10.1007/s11910-005-0063-7. Curr Neurol Neurosci Rep. 2005. PMID: 16131422 Review.
Deletions in CCM2 are a common cause of cerebral cavernous malformations.
Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, Marchuk DA. Liquori CL, et al. Among authors: marchuk da. Am J Hum Genet. 2007 Jan;80(1):69-75. doi: 10.1086/510439. Epub 2006 Nov 14. Am J Hum Genet. 2007. PMID: 17160895 Free PMC article.
193 results