Liquori CL - Search Results

1

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. 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.

2

Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus.

Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, Marchuk DA. Liquori CL, et al. Hum Mutat. 2006 Jan;27(1):118. doi: 10.1002/humu.9389. Hum Mutat. 2006. PMID: 16329096

3

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. 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.

4

Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.

Gianfrancesco F, Cannella M, Martino T, Maglione V, Esposito T, Innocenzi G, Vitale E, Liquori CL, Marchuk DA, Squitieri F. Gianfrancesco F, et al. Among authors: liquori cl. Am J Med Genet B Neuropsychiatr Genet. 2007 Jul 5;144B(5):691-5. doi: 10.1002/ajmg.b.30381. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17440989

5

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. Liquori CL, et al. Neurogenetics. 2008 Feb;9(1):25-31. doi: 10.1007/s10048-007-0109-x. Epub 2007 Dec 1. Neurogenetics. 2008. PMID: 18060436

6

ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.

Gianfrancesco F, Esposito T, Penco S, Maglione V, Liquori CL, Patrosso MC, Zuffardi O, Ciccodicola A, Marchuk DA, Squitieri F. Gianfrancesco F, et al. Among authors: liquori cl. Neuroscience. 2008 Aug 13;155(2):345-9. doi: 10.1016/j.neuroscience.2008.05.030. Epub 2008 Jul 16. Neuroscience. 2008. PMID: 18632209

7

CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations.

Verlaan DJ, Laurent SB, Rochefort DL, Liquori CL, Marchuk DA, Siegel AM, Rouleau GA. Verlaan DJ, et al. Among authors: liquori cl. Ann Neurol. 2004 May;55(5):757-8. doi: 10.1002/ana.20112. Ann Neurol. 2004. PMID: 15122722 No abstract available.

8

Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract.

Liquori CL, Ikeda Y, Weatherspoon M, Ricker K, Schoser BG, Dalton JC, Day JW, Ranum LP. Liquori CL, et al. Am J Hum Genet. 2003 Oct;73(4):849-62. doi: 10.1086/378720. Epub 2003 Sep 22. Am J Hum Genet. 2003. PMID: 14505273 Free PMC article.

9

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.

Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP. Liquori CL, et al. Science. 2001 Aug 3;293(5531):864-7. doi: 10.1126/science.1062125. Science. 2001. PMID: 11486088

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