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188 results
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A 90 kb DNA deletion associated with neurofibromatosis type 1.
Upadhyaya M, Cheryson A, Broadhead W, Fryer A, Shaw DJ, Huson S, Wallace MR, Andersen LB, Marchuk DA, Viskochil D, et al. Upadhyaya M, et al. Among authors: marchuk da. J Med Genet. 1990 Dec;27(12):738-41. doi: 10.1136/jmg.27.12.738. J Med Genet. 1990. PMID: 2127432 Free PMC article.
Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis.
McDonald DA, Shi C, Shenkar R, Gallione CJ, Akers AL, Li S, De Castro N, Berg MJ, Corcoran DL, Awad IA, Marchuk DA. McDonald DA, et al. Among authors: marchuk da. Hum Mol Genet. 2014 Aug 15;23(16):4357-70. doi: 10.1093/hmg/ddu153. Epub 2014 Apr 3. Hum Mol Genet. 2014. PMID: 24698976 Free PMC article.
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.
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.
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).
Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, Graham FL, Gaskell PC, Dearlove A, Pericak-Vance MA, Rubinsztein DC, Marchuk DA. Reid E, et al. Among authors: marchuk da. Am J Hum Genet. 2002 Nov;71(5):1189-94. doi: 10.1086/344210. Epub 2002 Sep 24. Am J Hum Genet. 2002. PMID: 12355402 Free PMC article.
188 results