Year |
Citation |
Score |
2008 |
Liquori CL, Penco S, Gault J, Leedom TP, Tassi L, Esposito T, Awad IA, Frati L, Johnson EW, Squitieri F, Marchuk DA, Gianfrancesco F. Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. Neurogenetics. 9: 25-31. PMID 18060436 DOI: 10.1007/s10048-007-0109-x |
0.534 |
|
2007 |
Gianfrancesco F, Cannella M, Martino T, Maglione V, Esposito T, Innocenzi G, Vitale E, Liquori CL, Marchuk DA, Squitieri F. 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. PMID 17440989 DOI: 10.1002/ajmg.b.30381 |
0.427 |
|
2007 |
Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, Marchuk DA. Deletions in CCM2 are a common cause of cerebral cavernous malformations. American Journal of Human Genetics. 80: 69-75. PMID 17160895 DOI: 10.1086/510439 |
0.536 |
|
2006 |
Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, Marchuk DA. Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus. Human Mutation. 27: 118. PMID 16329096 DOI: 10.1002/Humu.9389 |
0.581 |
|
2004 |
Verlaan DJ, Laurent SB, Rochefort DL, Liquori CL, Marchuk DA, Siegel AM, Rouleau GA. CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations. Annals of Neurology. 55: 757-8. PMID 15122722 DOI: 10.1002/Ana.20112 |
0.355 |
|
2003 |
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, et al. 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. PMID 14624391 DOI: 10.1086/380314 |
0.447 |
|
2001 |
Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science (New York, N.Y.). 293: 864-7. PMID 11486088 DOI: 10.1126/Science.1062125 |
0.315 |
|
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