Christina L. Liquori, Ph.D.
Affiliations: | 2005 | University of Minnesota, Twin Cities, Minneapolis, MN |
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"Christina Liquori"Mean distance: 26716.5
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Sign in to add mentorLaura P. W. Ranum | grad student | 2005 | UMN | |
(The identification and characterization of the mutation responsible for a second type of myotonic dystrophy (DM2).) |
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Publications
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Liquori CL, Penco S, Gault J, et al. (2008) Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. Neurogenetics. 9: 25-31 |
Gianfrancesco F, Cannella M, Martino T, et al. (2007) Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 144: 691-5 |
Liquori CL, Berg MJ, Squitieri F, et al. (2007) Deletions in CCM2 are a common cause of cerebral cavernous malformations. American Journal of Human Genetics. 80: 69-75 |
Liquori CL, Berg MJ, Squitieri F, et al. (2006) Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus. Human Mutation. 27: 118 |
Verlaan DJ, Laurent SB, Rochefort DL, et al. (2004) CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations. Annals of Neurology. 55: 757-8 |
Liquori CL, Berg MJ, Siegel AM, et al. (2003) Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. American Journal of Human Genetics. 73: 1459-64 |
Liquori CL, Ricker K, Moseley ML, et al. (2001) Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science (New York, N.Y.). 293: 864-7 |